Materiały źródłowe

• #1 Gaucher disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/gauchers-disease/diagnosis-treatment/drc-20355551

  While there’s no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Some people have such mild symptoms that they don’t need treatment. […] Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you’ll need to be monitored will depend on your situation. […] Many people who have Gaucher disease have seen improvements in their symptoms after beginning treatment with: […] Enzyme replacement therapy. This approach replaces the deficient enzyme with artificial ones. These replacement enzymes are given in an outpatient procedure through a vein (intravenously), typically in high doses at two-week intervals. Occasionally people have an allergic or hypersensitivity reaction to enzyme treatment.

• #2 Recent advances in the diagnosis and management of Gaucher disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6129380/

  Current treatments for Gaucher disease, including enzyme replacement therapy and substrate reduction therapy, can reverse many of the non-neurological manifestations, but these therapies must be administered continually and are extremely costly. […] Enzyme Replacement Therapy (ERT) has revolutionized the treatment of Gaucher disease and has markedly improved the prognoses of patients with GD1 and GD3. […] ERT has been shown to decrease bleeding during pregnancy, delivery, and postpartum and improves overall outcomes of mothers who have suffered previous miscarriages. […] Substrate Reduction Therapy (SRT) is an alternate treatment strategy first proposed by Radin. […] While ERT aims to rectify the absence and/or inactivity of GCase, SRT decreases glucocerebroside (GlcCer) production, making residual GCase activity sufficient to cleave the remaining lysosomal GlcCer.

• #3 Treating Gaucher Disease | Cerezyme® (imiglucerase)

  https://www.cerezyme.com/hcp/treating-gaucher-disease/treatment

  While SRT and ERT work in different ways, the goal of each treatment is the same: to reduce the accumulation of excess GL-1. […] Treatment options are available, including oral therapies. […] There are 2 treatment approaches for Gaucher disease type 1: Enzyme replacement therapy (ERT) and Substrate reduction therapy (SRT). […] When an ERT is needed, choose Cerezyme. […] Cerezyme (imiglucerase) for injection is indicated for treatment of adults and pediatric patients 2 years of age and older with Type 1 Gaucher disease that results in one or more of the following conditions: anemia, thrombocytopenia, bone disease, hepatomegaly or splenomegaly.

• #4 GD1 Treatment

  https://www.gauchercare.com/gd1-treatment

  Gaucher disease type 1 can be managed with treatment. […] Treatment may help improve certain symptoms and may help prevent certain long-term complications. […] In the short term, treatment for GD1 may improve symptoms by: INCREASING number of red blood cells, INCREASING number of platelets in the blood, REDUCING enlarged liver, REDUCING enlarged spleen, SLOWING progression of bone complications. […] In the long term, treatment for GD1 may help prevent certain complications. […] The goal of treatment is to reduce or prevent the buildup of GL-1. […] There are 2 kinds of treatment for Gaucher disease type 1. Treatment outcomes may vary among patients. […] Substrate reduction therapy (SRT): Oral capsule reduces the amount of GL-1 produced. […] Enzyme replacement therapy (ERT): Infusion adds a modified version of the enzyme that helps your body break down GL-1. […] Once you have a diagnosis of GD1, you and your doctor will determine the right treatment approach for you.

• #5 Gaucher disease treatment | Gaucher Disease News

  https://gaucherdiseasenews.com/approved-treatments/

  Treatment for Gaucher disease usually includes therapies that address the underlying cause of the disease, as well as supportive treatments to manage symptoms. […] The two main Gaucher disease treatment approaches are enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), both of which work to reduce the toxic buildup of Gb1 in the body. […] These treatments are effective for managing many aspects of the disease, but they offer the most benefit for people with Gaucher type 1. […] Research has shown that starting treatment soon after a Gaucher disease diagnosis is linked to better long-term outcomes, especially for people with type 1 disease. […] Known simply as ERT, enzyme replacement therapy was the first type of Gaucher disease treatment to gain widespread approval.

• #6 Gaucher Disease Treatment | National Gaucher Foundation

  https://www.gaucherdisease.org/gaucher-diagnosis-treatment/treatment/

  If you or a loved one has Gaucher disease type 1 (pronounced go-SHAY), the good news is that the disease is treatable. Treatment can address some of the symptoms of Gaucher disease type 3, but not the neurological (brain stem) symptoms. Current Gaucher disease treatment options include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). […] Enzyme replacement therapy (ERT) balances low levels of GCase enzyme with a modified version of the normal human enzyme. This allows your body to break down glucocerebroside, a fatty chemical that builds up in organs and bone marrow. […] Patients receive ERT via intravenous (IV) infusion about every 2 weeks, either at an infusion center or at home. […] There are currently 2 FDA-approved oral SRT drugs for patients with Gaucher disease: Cerdelga (eliglustat) and Zavesca (miglustat).

• #7 Enzyme Replacement Therapy for Gaucher Disease

  https://www.gaucherdisease.org/gaucher-diagnosis-treatment/treatment/enzyme-replacement-therapy/

  Enzyme replacement therapy (ERT) involves intravenous (IV) infusions to correct the underlying enzyme deficiency that causes symptoms of Gaucher disease. […] If you or a loved one has Gaucher disease type 1 or 3, ERT can minimize symptoms and prevent permanent damage to the body. […] ERT balances low levels of glucocerebrosidase (GCase) enzyme with a modified version of the enzyme. […] Patients typically need an ERT infusion every 2 weeks, depending on the individual. […] Patients may also receive ERT infusions at some hospitals and physicians offices. […] Some patients prefer getting ERT infusions at home with the help of a home health nurse. […] The FDA has approved ERT treatments for Gaucher Disease including the following enzyme replacement therapy drugs: Cerezyme (imiglucerase), VPRIV (velaglucerase alfa), Elelyso (taliglucerase alfa).

• #8 Enzyme Replacement Therapy for Gaucher Disease

  https://www.gaucherdisease.org/gaucher-diagnosis-treatment/treatment/enzyme-replacement-therapy/

  Enzyme replacement therapy (ERT) involves intravenous (IV) infusions to correct the underlying enzyme deficiency that causes symptoms of Gaucher disease. […] If you or a loved one has Gaucher disease type 1 or 3, ERT can minimize symptoms and prevent permanent damage to the body. […] ERT balances low levels of glucocerebrosidase (GCase) enzyme with a modified version of the enzyme. […] Patients typically need an ERT infusion every 2 weeks, depending on the individual. […] Patients may also receive ERT infusions at some hospitals and physicians offices. […] Some patients prefer getting ERT infusions at home with the help of a home health nurse. […] The FDA has approved ERT treatments for Gaucher Disease including the following enzyme replacement therapy drugs: Cerezyme (imiglucerase), VPRIV (velaglucerase alfa), Elelyso (taliglucerase alfa).

• #9 Gaucher Disease Medication: Enzyme replacement therapy, Glucosylceramide Synthase Inhibitors

  https://emedicine.medscape.com/article/944157-medication

  Several therapies have been approved by the US Food and Drug Administration (FDA) for the treatment of type 1 Gaucher disease. Enzyme replacement therapy (ERT) with glucocerebrosidase purified from human placenta was FDA approved in 1991, followed by approval in 1994 of a recombinant form of the enzyme produced in cultured Chinese hamster ovary (CHO) cells, marketed as imiglucerase (Cerezyme). Worldwide, over 4,000 patients with Gaucher disease have received ERT, which is safe and well tolerated. […] In 2010, an alternate form of ERT was approved. This form of recombinant enzyme is produced in cultured human cells and is marketed as velaglucerase alfa (VPRIV). […] In May 2012, taliglucerase alfa (Elelyso) was the first plant cell-based ERT approved by the FDA; it uses engineered carrot cells.

• #10 Gaucher Disease Medication: Enzyme replacement therapy, Glucosylceramide Synthase Inhibitors

  https://emedicine.medscape.com/article/944157-medication

  Several therapies have been approved by the US Food and Drug Administration (FDA) for the treatment of type 1 Gaucher disease. Enzyme replacement therapy (ERT) with glucocerebrosidase purified from human placenta was FDA approved in 1991, followed by approval in 1994 of a recombinant form of the enzyme produced in cultured Chinese hamster ovary (CHO) cells, marketed as imiglucerase (Cerezyme). Worldwide, over 4,000 patients with Gaucher disease have received ERT, which is safe and well tolerated. […] In 2010, an alternate form of ERT was approved. This form of recombinant enzyme is produced in cultured human cells and is marketed as velaglucerase alfa (VPRIV). […] In May 2012, taliglucerase alfa (Elelyso) was the first plant cell-based ERT approved by the FDA; it uses engineered carrot cells.

• #11 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  Enzyme replacement therapy (ERT) for type 1 Gaucher disease includes imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso). Historically, most patients received the recombinant enzyme imiglucerase. This preparation is highly effective in reversing the visceral and hematologic manifestations of Gaucher disease. However, skeletal disease is slow to respond, and pulmonary involvement is relatively resistant to the enzyme. Treatment is typically administered once every other week at a dose of 15-60 U/kg, with a standard adult dose being around 30 U/kg. Good responses have been described with all dose regimens, and the issue of the most suitable initial and maintenance dosages remains controversial. […] ERT is indicated for patients with type 1 Gaucher disease who exhibit clinical signs and symptoms of the disease, including anemia, thrombocytopenia, skeletal disease, or visceromegaly. Severity and rate of disease progression widely vary, especially in adults, which makes treatment decisions extremely difficult in some patients. Generally, children who present symptomatically, rather than because of family history, may have severe disease manifestations that require early treatment. Presymptomatic treatment with ERT remains controversial because of the lack of prognostic correlation between genotype and disease severity and the high cost of the therapy.

• #12 Gaucher Disease Medication: Enzyme replacement therapy, Glucosylceramide Synthase Inhibitors

  https://emedicine.medscape.com/article/944157-medication

  Several therapies have been approved by the US Food and Drug Administration (FDA) for the treatment of type 1 Gaucher disease. Enzyme replacement therapy (ERT) with glucocerebrosidase purified from human placenta was FDA approved in 1991, followed by approval in 1994 of a recombinant form of the enzyme produced in cultured Chinese hamster ovary (CHO) cells, marketed as imiglucerase (Cerezyme). Worldwide, over 4,000 patients with Gaucher disease have received ERT, which is safe and well tolerated. […] In 2010, an alternate form of ERT was approved. This form of recombinant enzyme is produced in cultured human cells and is marketed as velaglucerase alfa (VPRIV). […] In May 2012, taliglucerase alfa (Elelyso) was the first plant cell-based ERT approved by the FDA; it uses engineered carrot cells.

• #13 Gaucher Disease Medication: Enzyme replacement therapy, Glucosylceramide Synthase Inhibitors

  https://emedicine.medscape.com/article/944157-medication

  Several therapies have been approved by the US Food and Drug Administration (FDA) for the treatment of type 1 Gaucher disease. Enzyme replacement therapy (ERT) with glucocerebrosidase purified from human placenta was FDA approved in 1991, followed by approval in 1994 of a recombinant form of the enzyme produced in cultured Chinese hamster ovary (CHO) cells, marketed as imiglucerase (Cerezyme). Worldwide, over 4,000 patients with Gaucher disease have received ERT, which is safe and well tolerated. […] In 2010, an alternate form of ERT was approved. This form of recombinant enzyme is produced in cultured human cells and is marketed as velaglucerase alfa (VPRIV). […] In May 2012, taliglucerase alfa (Elelyso) was the first plant cell-based ERT approved by the FDA; it uses engineered carrot cells.

• #14 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  Enzyme replacement therapy (ERT) for type 1 Gaucher disease includes imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso). Historically, most patients received the recombinant enzyme imiglucerase. This preparation is highly effective in reversing the visceral and hematologic manifestations of Gaucher disease. However, skeletal disease is slow to respond, and pulmonary involvement is relatively resistant to the enzyme. Treatment is typically administered once every other week at a dose of 15-60 U/kg, with a standard adult dose being around 30 U/kg. Good responses have been described with all dose regimens, and the issue of the most suitable initial and maintenance dosages remains controversial. […] ERT is indicated for patients with type 1 Gaucher disease who exhibit clinical signs and symptoms of the disease, including anemia, thrombocytopenia, skeletal disease, or visceromegaly. Severity and rate of disease progression widely vary, especially in adults, which makes treatment decisions extremely difficult in some patients. Generally, children who present symptomatically, rather than because of family history, may have severe disease manifestations that require early treatment. Presymptomatic treatment with ERT remains controversial because of the lack of prognostic correlation between genotype and disease severity and the high cost of the therapy.

• #15 Gaucher Disease > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/gaucher-disease

  Treatments include enzyme replacement therapy via IV and substrate reduction therapy (medication) […] Type 1 Gaucher disease, as well as the non-neurological symptoms of type 3, are treatable. Available therapies include: […] Enzyme replacement therapy (ERT): This balances the low levels of glucocerebrosidase, which is the underlying cause of Gaucher disease. Patients receive intravenous infusions of the enzyme every two weeks. […] Substrate reduction therapy (SRT): This is an oral medication that decreases the rate of formation of glucocerebroside in the body so that excess buildup is reduced.

• #16 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  The symptoms of patients with Gaucher disease who have associated hematologic malignancies respond relatively poorly to ERT. To overcome these difficulties, increased dosage and frequency of enzyme infusions have been attempted. The symptoms of patients with decompensated liver disease do not appear to respond well to ERT, and these patients remain at risk for life-threatening hemorrhage due to variceal bleeding. […] No evidence shows that ERT results in neurologic improvement. Although the enzyme affects the visceral involvement in types 2 and 3 disease, the associated brain involvement may persist or progress. […] Glucosylceramide synthase inhibitors include miglustat (Zavesca) and eliglustat (Cerdelga). Miglustat was approved in 2003 as monotherapy for treatment of adults with mild-to-moderate type 1 Gaucher disease for whom enzyme replacement therapy is not a therapeutic option. Patients have reported mild to moderate adverse effects with miglustat, the most frequently reported side effects being GI.

• #17 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  For most patients with Gaucher disease in the United States, treatment with ERT is typically guided by a geneticist or a hematologist. Patients should receive periodic follow-up at a center familiar with Gaucher disease, if possible. […] ERT has a remarkable effect on hepatosplenomegaly, with an average overall decrease of 25% in liver and spleen volume after 6 months of therapy. In most patients with anemia, hemoglobin levels rise by 1.5 g/dL during the first 4-6 months of therapy. An additional increase of 1 g/dL is observed in the subsequent 9-18 months in patients with persistent anemia. The platelet count responds more slowly, doubling on average over 1 year. The hematologic status of patients with splenomegaly must be closely monitored, and splenectomy is still occasionally necessary.

• #18 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  Skeletal disease is the slowest to respond, with symptomatic improvement described by some within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response. Patients with bone crises require pain relief, hydration, and close monitoring. A bone scan is sometimes needed to differentiate between a bone crisis and infection. Those who have undergone splenectomy are particularly susceptible to the development of bone disease, even with therapy. […] Other effects of ERT in children with Gaucher disease include an increased growth velocity, weight gain, increased energy levels, and a correction of both delayed puberty and hypermetabolic state. […] The response of patients to ERT widely varies and does not correlate with genotype, disease severity, splenectomy, or age. However, a number of factors, including cirrhosis and portal hypertension, extensive infarction and fibrosis of the spleen, and lung involvement, portend a poor response to therapy.

• #19 Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-014-0112-x

  Long-term ERT for GD can reduce the incidence of splenectomy and bone complications. As ERT prevents progression to more advanced stages of GD it will most likely result in a reduction of associated malignancies. […] Enzyme replacement therapy has been shown to be highly effective in reversing cytopenia and reducing organ volumes. […] Real life experience with enzyme replacement therapy, mainly imiglucerase, suggests that when started early, i.e. before irreversible damage has occurred, ERT may prevent both the the need for splenectomy and the incidence of bone disease. […] Given this high impact of long-term complications and associated conditions of Gaucher disease on QoL, it is important to investigate the effect of ERT on the incidence of these events. […] Progression from the signs/symptoms stage to the development of complications was positively influenced by ERT.

• #20 Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-014-0112-x

  Our study shows significant differences in the incidence of this complication in the NH cohort when compared to the ERT cohort. In fact, none of the treated patients underwent a splenectomy. […] The data presented here are derived from the entire Dutch cohort and the natural history data were carefully selected to avoid limitations such as bias by indication. It offers further evidence that ERT can significantly reduce the frequency of bone complications, but cannot fully prevent these. […] Finally, we studied the incidence of Gaucher associated malignancies. Our data illustrate that malignancies occur mostly in patients with advanced Gaucher disease, which would have provided patients with a clear indication to start treatment. Our study is thus subject to a certain selection bias, as patients with associated malignancies are underrepresented in our NH cohort, which might underestimate the effect of ERT. […] In conclusion, long-term enzyme replacement therapy for Gaucher disease can effectively reduce the incidence of splenectomy and bone complications, and will most likely result in a reduction in the risk of developing malignancies.

• #21 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  Skeletal disease is the slowest to respond, with symptomatic improvement described by some within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response. Patients with bone crises require pain relief, hydration, and close monitoring. A bone scan is sometimes needed to differentiate between a bone crisis and infection. Those who have undergone splenectomy are particularly susceptible to the development of bone disease, even with therapy. […] Other effects of ERT in children with Gaucher disease include an increased growth velocity, weight gain, increased energy levels, and a correction of both delayed puberty and hypermetabolic state. […] The response of patients to ERT widely varies and does not correlate with genotype, disease severity, splenectomy, or age. However, a number of factors, including cirrhosis and portal hypertension, extensive infarction and fibrosis of the spleen, and lung involvement, portend a poor response to therapy.

• #22 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  Enzyme replacement therapy (ERT) for type 1 Gaucher disease includes imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso). Historically, most patients received the recombinant enzyme imiglucerase. This preparation is highly effective in reversing the visceral and hematologic manifestations of Gaucher disease. However, skeletal disease is slow to respond, and pulmonary involvement is relatively resistant to the enzyme. Treatment is typically administered once every other week at a dose of 15-60 U/kg, with a standard adult dose being around 30 U/kg. Good responses have been described with all dose regimens, and the issue of the most suitable initial and maintenance dosages remains controversial. […] ERT is indicated for patients with type 1 Gaucher disease who exhibit clinical signs and symptoms of the disease, including anemia, thrombocytopenia, skeletal disease, or visceromegaly. Severity and rate of disease progression widely vary, especially in adults, which makes treatment decisions extremely difficult in some patients. Generally, children who present symptomatically, rather than because of family history, may have severe disease manifestations that require early treatment. Presymptomatic treatment with ERT remains controversial because of the lack of prognostic correlation between genotype and disease severity and the high cost of the therapy.

• #23 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  Enzyme replacement therapy (ERT) for type 1 Gaucher disease includes imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso). Historically, most patients received the recombinant enzyme imiglucerase. This preparation is highly effective in reversing the visceral and hematologic manifestations of Gaucher disease. However, skeletal disease is slow to respond, and pulmonary involvement is relatively resistant to the enzyme. Treatment is typically administered once every other week at a dose of 15-60 U/kg, with a standard adult dose being around 30 U/kg. Good responses have been described with all dose regimens, and the issue of the most suitable initial and maintenance dosages remains controversial. […] ERT is indicated for patients with type 1 Gaucher disease who exhibit clinical signs and symptoms of the disease, including anemia, thrombocytopenia, skeletal disease, or visceromegaly. Severity and rate of disease progression widely vary, especially in adults, which makes treatment decisions extremely difficult in some patients. Generally, children who present symptomatically, rather than because of family history, may have severe disease manifestations that require early treatment. Presymptomatic treatment with ERT remains controversial because of the lack of prognostic correlation between genotype and disease severity and the high cost of the therapy.

• #24 Individualization of long-term enzyme replacement therapy for Gaucher disease | Genetics in Medicine

  https://www.nature.com/articles/gim200519

  Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous condition affecting multiple organ systems. Enzyme replacement therapy (ERT) with mannose-terminated glucocerebrosidase (imiglucerase, Cerezyme, Genzyme Corporation, Cambridge, MA) reverses or ameliorates many of the manifestations of type 1 Gaucher disease. […] Implementation of treatment, choice of initial and maintenance imiglucerase dose, and evaluation of the therapeutic response must be tailored to the individual patient. […] Enzyme replacement therapy (ERT) with intravenous recombinant, mannose-terminated glucocerebrosidase (imiglucerase, Cerezyme) is the preferred treatment for symptomatic patients with nonneuronopathic (Type 1) Gaucher disease. […] The success or failure in achieving and maintaining the therapeutic goals should determine when patients may be considered for dose adjustments.

• #25 Individualization of long-term enzyme replacement therapy for Gaucher disease | Genetics in Medicine

  https://www.nature.com/articles/gim200519

  The initial ERT dose should be determined in the context of the existing severity of disease and the likelihood for continued, progressive, or new-onset complications. […] Generally, the recommended initial imiglucerase dose in adults and children at increased risk is 60 units/kg body weight every 2 weeks. […] Upon achieving the therapeutic goals, a clinician’s decision to change the dose should be implemented based on the history and objective evidence of disease status and course. […] The individualized approach to imiglucerase treatment as described above is the most efficient and cost-effective method for improving the outcome and health of patients with type 1 Gaucher disease.

• #26 Successful treatment of Gaucher disease type 1 by enzyme replacement therapy over a 10-year duration in a Japanese pediatric patient: A case report

  https://www.spandidos-publications.com/10.3892/etm.2021.9677

  Successful treatment of Gaucher disease type 1 by enzyme replacement therapy over a 10-year duration in a Japanese pediatric patient: A case report […] The present study reported the case of a Japanese pediatric patient diagnosed with GD type 1, who presented with hepatosplenomegaly and thrombocytopenia at the age of 2 years, and was subsequently treated with ERT, which proved to be significantly effective for treating this condition. […] At the age of 3.0 years, ERT was initiated for the patient, along with an intravenous infusion of 60 U/kg imiglucerase every other week. Hemoglobin levels and the platelet count were observed to improve gradually, and they normalized after two years. ACP and ACE levels, biomarkers of GD progression, were also indicated to improve. Abdominal MRI at six months after the initiation of ERT revealed a decrease in the size of the liver and spleen, which also normalized after 1 year. […] The present study described the case of a Japanese pediatric patient diagnosed with GD type 1 who significantly improved on ERT. In Japan, the prevalence of GD is lower compared with that in Western countries, and thus, limited data on Japanese pediatric patients with GD are currently available. […] A previous study indicated that long-term high-dose ERT (60 U/kg every 2 weeks) was required to obtain sufficient improvement to maintain health among pediatric patients with severe GD and ERT reduction (from 60 to 30 or 15 U/kg every 2 weeks) was associated with insufficient improvement of hemoglobin levels and the platelet count. […] Therefore, in the present case, long-term high-dose ERT (60 U/kg every 2 weeks) was maintained without any dose reduction. […] In conclusion, the present study reported the case of a Japanese pediatric patient with GD type 1 who, despite having a high disease severity, exhibited significant improvements on ERT over a 10-year duration.

• #27

  https://haematologica.org/article/view/4318

  Besides the frequent and clearly established effects of ERT, some additional effects can be expected, in Gaucher patients who present with unusual manifestations of the disease. […] The most effective dosing regimen of ERT is still a matter of debate. […] One strategy could be called top-down, with the dose being relatively high at the beginning and then subsequently tapered down to reach a maintenance phase. […] Miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) was introduced 6 years ago. This compound inhibits glucosylceramide synthase, preventing new synthesis of glucosylceramide on top of accumulated lipid. […] In Europe, miglustat is licensed for patients who cannot receive standard ERT. […] There is now consensus that the presence of the L444P mutation, at least on one allele, is required in patients with a progressive neuronopathic form of the disease: type II (acute neuronopathic) and type III (chronic-neuronopathic).

• #28 Recent advances in the diagnosis and management of Gaucher disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6129380/

  Current treatments for Gaucher disease, including enzyme replacement therapy and substrate reduction therapy, can reverse many of the non-neurological manifestations, but these therapies must be administered continually and are extremely costly. […] Enzyme Replacement Therapy (ERT) has revolutionized the treatment of Gaucher disease and has markedly improved the prognoses of patients with GD1 and GD3. […] ERT has been shown to decrease bleeding during pregnancy, delivery, and postpartum and improves overall outcomes of mothers who have suffered previous miscarriages. […] Substrate Reduction Therapy (SRT) is an alternate treatment strategy first proposed by Radin. […] While ERT aims to rectify the absence and/or inactivity of GCase, SRT decreases glucocerebroside (GlcCer) production, making residual GCase activity sufficient to cleave the remaining lysosomal GlcCer.

• #29 Enzyme Replacement or Substrate Reduction? A Review of Gaucher Disease Treatment Options

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4981103/

  Substrate reduction therapy reduces the GLC influx into the lysosome by inhibiting the GLC-synthase enzyme, resulting in a reduction of the amount of GLC present. […] These studies indicate that miglustat may be useful in maintaining a stable liver volume in some Gaucher disease patients and could benefit patients who are unwilling or unable to use enzyme replacement therapy. However, adverse effects may limit the number of patients who can tolerate miglustat therapy, and there was no measure of compliance with the miglustat regimen, which may impact the results of this study. […] A phase 2, open-label, single-arm trial evaluated safety and efficacy of eliglustat 50 mg twice daily with permitted adjustment to 100 mg twice daily in 28 treatment-nave adult patients with type 1 Gaucher disease. After 1 year of eliglustat therapy, 77% of patients met the primary composite outcome of achieving 2 of the 3 following outcomes: 0.5 g/L increase in mean hemoglobin, 15% increase in mean platelet counts, and 15% decrease in mean spleen volume.

• #30 Gaucher Disease > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/gaucher-disease

  Treatments include enzyme replacement therapy via IV and substrate reduction therapy (medication) […] Type 1 Gaucher disease, as well as the non-neurological symptoms of type 3, are treatable. Available therapies include: […] Enzyme replacement therapy (ERT): This balances the low levels of glucocerebrosidase, which is the underlying cause of Gaucher disease. Patients receive intravenous infusions of the enzyme every two weeks. […] Substrate reduction therapy (SRT): This is an oral medication that decreases the rate of formation of glucocerebroside in the body so that excess buildup is reduced.

• #31 Gaucher Disease Medication: Enzyme replacement therapy, Glucosylceramide Synthase Inhibitors

  https://emedicine.medscape.com/article/944157-medication

  The glucosylceramide synthase inhibitors, miglustat and eliglustat, were approved for adults with type 1 Gaucher disease in 2003 and 2014 respectively. […] In most cases, ERT is highly effective in reversing the visceral and hematologic manifestations of type 1 Gaucher disease. […] Imiglucerase is approved for children aged 2 years or older. Velaglucerase and taliglucerase are both approved for children aged 4 years or older. […] Hydrolytic lysosomal glucocerebroside-specific enzyme indicated for long-term enzyme replacement therapy for type 1 Gaucher disease. Improves symptoms associated with the disease, including anemia, thrombocytopenia, increased spleen and liver size, and cachexia. […] Taliglucerase is a plant-based recombinant enzyme. It catalyzes the hydrolysis of glucocerebroside to glucose and ceramide, which results in reduced spleen and liver enlargement and increased RBCs and platelets.

• #32 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  The symptoms of patients with Gaucher disease who have associated hematologic malignancies respond relatively poorly to ERT. To overcome these difficulties, increased dosage and frequency of enzyme infusions have been attempted. The symptoms of patients with decompensated liver disease do not appear to respond well to ERT, and these patients remain at risk for life-threatening hemorrhage due to variceal bleeding. […] No evidence shows that ERT results in neurologic improvement. Although the enzyme affects the visceral involvement in types 2 and 3 disease, the associated brain involvement may persist or progress. […] Glucosylceramide synthase inhibitors include miglustat (Zavesca) and eliglustat (Cerdelga). Miglustat was approved in 2003 as monotherapy for treatment of adults with mild-to-moderate type 1 Gaucher disease for whom enzyme replacement therapy is not a therapeutic option. Patients have reported mild to moderate adverse effects with miglustat, the most frequently reported side effects being GI.

• #33 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  Eliglustat was approved in August 2014 as first-line treatment for the long-term treatment of adults with Gaucher disease type 1. The dose of eliglustat is determined by establishing the patients CYP2D6 phenotype (ie, extensive metabolizers [EM], intermediate metabolizers [IM], or poor metabolizers [PM]). […] Approval was based on efficacy data from two positive phase 3 studies involving 199 patients. One study involved patients new to therapy (trial 1), and the other involved patients switching from approved enzyme replacement therapies (trial 2). Efficacy data from 4 years of the Cerdelga phase 2 study also contributed to the approval. Improvements in study participants were observed in spleen size, platelet levels, hemoglobin levels, and liver volume, and noninferiority to enzyme replacement therapy (imiglucerase) was established in trial 2.

• #34 How Cerdelga Works

  https://www.cerdelga.com/how-cerdelga-works

  Cerdelga is the ONLY first-line oral therapy indicated for the long-term treatment of most adults with GD1. Cerdelga is a substrate reduction therapy (SRT). Instead of replacing the enzyme that breaks down GL-1, SRT reduces GL-1 production. In doing so, people with GD1 can use any available active enzyme remaining in their body to break down GL-1. […] Cerdelga works by reducing GL-1 production in patients with GD1. […] Cerdelga (eliglustat) is a prescription medicine used for the long-term treatment of Gaucher disease type 1 in adults who are CYP2D6 extensive metabolizers, intermediate metabolizers, or poor metabolizers as detected by an FDA-cleared test. […] Cerdelga is indicated for 3 of the 4 main types of metabolizers. […] Cerdelga is a capsule taken by mouth either once or twice per day. Your dose will depend on the kind of metabolizer you are as well as other factors. If Cerdelga is right for you, you may be able to switch from an ERT 24 hours after your last infusion.

• #35 How Cerdelga Works

  https://www.cerdelga.com/how-cerdelga-works

  Cerdelga is the ONLY first-line oral therapy indicated for the long-term treatment of most adults with GD1. Cerdelga is a substrate reduction therapy (SRT). Instead of replacing the enzyme that breaks down GL-1, SRT reduces GL-1 production. In doing so, people with GD1 can use any available active enzyme remaining in their body to break down GL-1. […] Cerdelga works by reducing GL-1 production in patients with GD1. […] Cerdelga (eliglustat) is a prescription medicine used for the long-term treatment of Gaucher disease type 1 in adults who are CYP2D6 extensive metabolizers, intermediate metabolizers, or poor metabolizers as detected by an FDA-cleared test. […] Cerdelga is indicated for 3 of the 4 main types of metabolizers. […] Cerdelga is a capsule taken by mouth either once or twice per day. Your dose will depend on the kind of metabolizer you are as well as other factors. If Cerdelga is right for you, you may be able to switch from an ERT 24 hours after your last infusion.

• #36 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  Eliglustat was approved in August 2014 as first-line treatment for the long-term treatment of adults with Gaucher disease type 1. The dose of eliglustat is determined by establishing the patients CYP2D6 phenotype (ie, extensive metabolizers [EM], intermediate metabolizers [IM], or poor metabolizers [PM]). […] Approval was based on efficacy data from two positive phase 3 studies involving 199 patients. One study involved patients new to therapy (trial 1), and the other involved patients switching from approved enzyme replacement therapies (trial 2). Efficacy data from 4 years of the Cerdelga phase 2 study also contributed to the approval. Improvements in study participants were observed in spleen size, platelet levels, hemoglobin levels, and liver volume, and noninferiority to enzyme replacement therapy (imiglucerase) was established in trial 2.

• #37 Treating Gaucher Disease | Cerezyme® (imiglucerase)

  https://www.cerezyme.com/hcp/treating-gaucher-disease/treatment

  While SRT and ERT work in different ways, the goal of each treatment is the same: to reduce the accumulation of excess GL-1. […] Treatment options are available, including oral therapies. […] There are 2 treatment approaches for Gaucher disease type 1: Enzyme replacement therapy (ERT) and Substrate reduction therapy (SRT). […] When an ERT is needed, choose Cerezyme. […] Cerezyme (imiglucerase) for injection is indicated for treatment of adults and pediatric patients 2 years of age and older with Type 1 Gaucher disease that results in one or more of the following conditions: anemia, thrombocytopenia, bone disease, hepatomegaly or splenomegaly.

• #38 Enzyme Replacement Therapy for Gaucher Disease

  https://www.gaucherdisease.org/gaucher-diagnosis-treatment/treatment/enzyme-replacement-therapy/

  Talk to a Gaucher specialist to find out which enzyme replacement therapy drug and treatment option is right for you. […] In addition to ERT infusion drugs, oral substrate reduction therapy (SRT) is also available for treating Gaucher disease. […] Working with a Gaucher specialist is key to determining which treatment is right for you. […] Pros of using ERT to treat Gaucher disease include fewer side effects, longer drug history, and wider availability. […] Cons of taking ERT as a Gaucher disease treatment include inconvenience, more invasive procedures, and fluctuations in patient well-being. […] ERT can be very expensive, totaling up to $200,000 or more each year. […] Learn more about financial support for help paying for Gaucher disease treatment.

• #39 Enzyme Replacement or Substrate Reduction? A Review of Gaucher Disease Treatment Options

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4981103/

  Gaucher disease is a rare lysosomal storage disease resulting from a deficiency or reduced activity in the acid -glucocosidase enzyme. Only 1 treatment option was available for 15 years, but several new treatment options have come to market since 2003. […] Enzyme replacement therapy is preferred for the management of Gaucher disease. Current literature does not favor any enzyme replacement product over another. However, velaglucerase alfa and taliglucerase alfa theoretically have a lower risk of immunogenicity reactions compared with imiglucerase. […] Enzyme replacement therapy is preferred for treating type 1 Gaucher disease and substrate replacement therapy may be considered in patients who do not tolerate or cannot receive enzyme replacement therapy. […] Enzyme replacement therapy is considered first-line treatment for patients with type 1 Gaucher disease in the 2014 draft joint proposal on treatment of Gaucher disease by European Medicine Agency (EMA) and the FDA.

• #40 Gaucher Disease Treatment | National Gaucher Foundation

  https://www.gaucherdisease.org/gaucher-diagnosis-treatment/treatment/

  In addition to ERT and SRT, which address enzyme deficiency and glucocerebroside accumulation, you may need other treatments for symptoms and complications of Gaucher disease. […] It is essential to work with a Gaucher specialist who can help you determine your best treatment option and manage your symptoms. […] The National Institutes of Health is sponsoring the clinical trial, and anyone who is eligible can apply.

• #41 Gaucher disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/gauchers-disease/diagnosis-treatment/drc-20355551

  Miglustat (Zavesca). This oral medication appears to interfere with the production of fatty substances that build up in people with Gaucher disease. Diarrhea and weight loss are common side effects. […] Eliglustat (Cerdelga). This drug also seems to inhibit the production of fatty substances that build up in people with the most common form of Gaucher disease. Possible side effects include fatigue, headache, nausea and diarrhea. […] Osteoporosis drugs. These types of medication can help rebuild bone weakened by Gaucher disease. […] If your symptoms are severe and you’re not a candidate for less invasive treatments, your doctor might suggest: […] Bone marrow transplant. In this procedure, blood-forming cells that have been damaged by Gaucher disease are removed and replaced, which can reverse many of Gaucher signs and symptoms. Because this is a high-risk approach, it’s performed less often than is enzyme replacement therapy. […] Spleen removal. Before enzyme replacement therapy became available, removing the spleen was a common treatment for Gaucher disease. Now this procedure typically is used as a last resort.

• #42 Gaucher Disease Treatment: Enzyme Replacement Therapy, Drugs, Surgery, and More

  https://www.webmd.com/children/gauchers-treatment

  Enzyme Replacement Therapy (ERT) […] Most adults and kids with type 1 or type 3 Gaucher disease can get this kind of treatment. It replaces or adds to enzymes that your liver or spleen can’t make anymore. […] ERT can often help: Shrink the size of your liver or spleen if they get too large, Ease anemia that makes you weak or tired, Build bone strength to ease pain and prevent breaks. […] There are three ERT drugs to choose from: Imiglucerase (Cerezyme), Taliglucerase alfa (Elelyso), Velaglucerase alfa (VPRIV). […] If you’re an adult with type 1 Gaucher, you can take pills that cut down on fats that can build up in your liver, spleen, or bone marrow. […] Drugs called bisphosphonates can help rebuild your weakened bones. […] Kids and adults with Gaucher may also take drugs like acetaminophen (Tylenol) or ibuprofen (Advil, Motrin) for mild pain, or opioids for stronger pain.

• #43 Gaucher Disease: Causes, Symptoms, and Treatment

  https://www.webmd.com/children/gauchers-disease-symptoms-causes-treatments

  Pain treatments. Kids and adults with Gaucher may take drugs like acetaminophen or ibuprofen for mild pain or opioids for stronger pain. Antidepressants, anti-anxiety drugs, and muscle relaxers may also help with pain. […] Vitamin D, calcium, or other supplements may help ease Gaucher symptoms too. Your doctor may recommend them if they think you’re not getting enough in your diet.

• #44 Gaucher Disease Treatment: Enzyme Replacement Therapy, Drugs, Surgery, and More

  https://www.webmd.com/children/gauchers-treatment

  You may need an operation to ease symptoms that don’t get better with drugs. […] A few people with Gaucher get this procedure to help them replace damaged blood cells. […] If your joints are weak and damaged, this kind of operation may help you move better and hurt less. […] This can be useful if Gaucher has given you extreme anemia. […] Both kids and adults with Gaucher should eat a healthy diet with foods rich in vitamin D and calcium to help keep bones strong, and get regular exercise. […] Whatever treatment you use, keep in mind that researchers are working all the time to find new ways to treat Gaucher in clinical trials.

• #45 Gaucher disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/gauchers-disease/diagnosis-treatment/drc-20355551

  Miglustat (Zavesca). This oral medication appears to interfere with the production of fatty substances that build up in people with Gaucher disease. Diarrhea and weight loss are common side effects. […] Eliglustat (Cerdelga). This drug also seems to inhibit the production of fatty substances that build up in people with the most common form of Gaucher disease. Possible side effects include fatigue, headache, nausea and diarrhea. […] Osteoporosis drugs. These types of medication can help rebuild bone weakened by Gaucher disease. […] If your symptoms are severe and you’re not a candidate for less invasive treatments, your doctor might suggest: […] Bone marrow transplant. In this procedure, blood-forming cells that have been damaged by Gaucher disease are removed and replaced, which can reverse many of Gaucher signs and symptoms. Because this is a high-risk approach, it’s performed less often than is enzyme replacement therapy. […] Spleen removal. Before enzyme replacement therapy became available, removing the spleen was a common treatment for Gaucher disease. Now this procedure typically is used as a last resort.

• #46 Gaucher disease – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/gaucher-disease/

  Treatment is usually not effective with type 2 Gaucher disease. […] Bone marrow transplantation (BMT) has been undertaken in individuals with severe Gaucher disease, primarily those with chronic neurologic involvement (type 3 Gaucher disease). Successful BMT can correct the metabolic defect, improve blood counts, and reduce increased liver volume. In a few individuals, stabilization of neurologic and bone disease has occurred; however, the morbidity and mortality associated with BMT limit its use in individuals with type 1 and type 3 Gaucher disease. Therefore, this procedure has been largely superseded by enzyme replacement therapy. […] Enzyme replacement therapy (ERT) works by providing the body with synthetic (artificial/man-made) enzyme to clear the stored waste product (fat) that has built up in the bodys cells (the lysosome) causing the symptoms of Gaucher disease. Regular intravenous (IV) infusions of the recombinant enzymes (ERT) have been demonstrated to be safe and effective in reversing those features resulting from hematologic (blood) and visceral (liver/spleen) involvement. ERT is well tolerated. Individuals with type 1 Gaucher disease report improved health-related quality of life after 24-48 months of ERT.

• #47 Gaucher disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/gauchers-disease/diagnosis-treatment/drc-20355551

  Miglustat (Zavesca). This oral medication appears to interfere with the production of fatty substances that build up in people with Gaucher disease. Diarrhea and weight loss are common side effects. […] Eliglustat (Cerdelga). This drug also seems to inhibit the production of fatty substances that build up in people with the most common form of Gaucher disease. Possible side effects include fatigue, headache, nausea and diarrhea. […] Osteoporosis drugs. These types of medication can help rebuild bone weakened by Gaucher disease. […] If your symptoms are severe and you’re not a candidate for less invasive treatments, your doctor might suggest: […] Bone marrow transplant. In this procedure, blood-forming cells that have been damaged by Gaucher disease are removed and replaced, which can reverse many of Gaucher signs and symptoms. Because this is a high-risk approach, it’s performed less often than is enzyme replacement therapy. […] Spleen removal. Before enzyme replacement therapy became available, removing the spleen was a common treatment for Gaucher disease. Now this procedure typically is used as a last resort.

• #48 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  Currently there are no approved gene therapies for Gaucher disease. There are several clinical trials involving several gene therapy modalities including a non-integrating AAV9 vector and integrating lentiviral vector. […] Partial and total splenectomy was once advocated in the treatment of patients with Gaucher disease. However, with the availability of ERT, this procedure is no longer necessary in most patients. […] In addition, patients with Gaucher disease may require hip replacements or other orthopedic procedures to treat skeletal disease. This is best undertaken after the patient has undergone several months of ERT.

• #49 Gaucher Disease Treatment: Enzyme Replacement Therapy, Drugs, Surgery, and More

  https://www.webmd.com/children/gauchers-treatment

  You may need an operation to ease symptoms that don’t get better with drugs. […] A few people with Gaucher get this procedure to help them replace damaged blood cells. […] If your joints are weak and damaged, this kind of operation may help you move better and hurt less. […] This can be useful if Gaucher has given you extreme anemia. […] Both kids and adults with Gaucher should eat a healthy diet with foods rich in vitamin D and calcium to help keep bones strong, and get regular exercise. […] Whatever treatment you use, keep in mind that researchers are working all the time to find new ways to treat Gaucher in clinical trials.

• #50 Gaucher Disease Treatment: Enzyme Replacement Therapy, Drugs, Surgery, and More

  https://www.webmd.com/children/gauchers-treatment

  You may need an operation to ease symptoms that don’t get better with drugs. […] A few people with Gaucher get this procedure to help them replace damaged blood cells. […] If your joints are weak and damaged, this kind of operation may help you move better and hurt less. […] This can be useful if Gaucher has given you extreme anemia. […] Both kids and adults with Gaucher should eat a healthy diet with foods rich in vitamin D and calcium to help keep bones strong, and get regular exercise. […] Whatever treatment you use, keep in mind that researchers are working all the time to find new ways to treat Gaucher in clinical trials.

• #51 Gaucher disease treatment | Gaucher Disease News

  https://gaucherdiseasenews.com/approved-treatments/

  Three ERTs are approved in the U.S. for treating Gaucher disease: Cerezyme (imiglucerase), VPRIV (velaglucerase alfa), and Elelyso (taliglucerase alfa). […] SRT, fully known as substrate reduction therapy, is a class of oral treatments that also reduce levels of Gb1 inside cells. […] There are two approved SRT products for Gaucher disease treatment: Cerdelga (eliglustat) and Zavesca (miglustat). […] While ERT and SRT are the only approved treatments that target the underlying cause of Gaucher disease, a number of experimental and emerging therapies are being explored. […] Some small studies have indicated that stem cell transplant may help improve Gaucher symptoms in certain patients. […] Gaucher disease type 1 treatment usually involves standard ERT or SRT therapies, alongside supportive care to help with symptom management.

• #52 Gaucher disease treatment | Gaucher Disease News

  https://gaucherdiseasenews.com/approved-treatments/

  Gaucher disease type 2 treatment essentially consists of supportive care and palliative treatment to make patients and their families comfortable. […] Gaucher disease type 3 treatment may involve ERT to manage non-neurological complications of the disease. […] Research is ongoing to look for new ways to treat the different types of Gaucher disease.

• #53 Gaucher Disease: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/16234-gaucher-disease

  Gaucher disease type 1 is treatable, but there’s no cure. […] With regular therapy, Gaucher disease type 1 is treatable. […] Gaucher disease treatment either increases enzyme levels or decreases the fatty substance that builds up in your body. […] Treatment for Gaucher disease type 1 includes: […] People with Gaucher disease need ERT regularly (every two weeks) for treatment to be effective. […] This treatment decreases fatty chemicals so they can’t build up in your body. […] Researchers are actively developing several new therapies using genetic engineering and stem cell technologies. […] With treatment, people with Gaucher disease type 1 can manage the disorder and lead full lives. […] Without treatment, Gaucher disease can cause permanent damage.

• #54 Gaucher Disease

  https://www.brainfacts.org/diseases-and-disorders/neurological-disorders-az/diseases-a-to-z-from-ninds/gaucher-disease

  Enzyme replacement therapy is available for most people with types 1 and 3 Gaucher disease. Given intravenously every two weeks, this therapy decreases liver and spleen size, reduces skeletal abnormalities, and reverses other symptoms of the disorder. The U.S. Food and Drug Administration has approved taliglucerase alfa for long-term enzyme replacement in people with type 1 Gaucher disease. Bone marrow transplantation (a procedure to replace damaged or destroyed blood-forming cells) can reverse the non-neurological effects of type 1 Gaucher disease, but the procedure carries a high risk and is rarely performed. Surgery to remove the spleen may be required on rare occasions, and blood transfusions may benefit some anemic individuals. Other individuals may require joint replacement surgery to improve mobility and quality of life. There is no effective treatment for severe brain damage that may occur in persons with types 2 and 3 Gaucher disease. […] Enzyme replacement therapy is very beneficial for type 1 and most type 3 individuals with this condition.

• #55 Gaucher’s disease: Causes, treatment, and outlook

  https://www.medicalnewstoday.com/articles/263370

  ERT does not treat nervous system problems, for example brain damage, in patients with types 2 and 3. […] SRT aims to reduce the production and buildup of substrate, or waste material, in cells. […] Miglustat, or Zavesca, is approved by the United States Food and Drug Administration (FDA) as an oral prescription medication for adults with mild to moderate type 1 Gauchers disease. […] A bone marrow transplant, also known as a stem cell transplant, replaces bone marrow that has been damaged by Gauchers with healthy bone marrow stem cells. […] Bone marrow transplantation is only used in severe cases of Gauchers disease.

• #56 Gaucher Disease > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/gaucher-disease

  Treatments include enzyme replacement therapy via IV and substrate reduction therapy (medication) […] Type 1 Gaucher disease, as well as the non-neurological symptoms of type 3, are treatable. Available therapies include: […] Enzyme replacement therapy (ERT): This balances the low levels of glucocerebrosidase, which is the underlying cause of Gaucher disease. Patients receive intravenous infusions of the enzyme every two weeks. […] Substrate reduction therapy (SRT): This is an oral medication that decreases the rate of formation of glucocerebroside in the body so that excess buildup is reduced.

• #57 Gaucher Disease Type 3: Symptoms, Treatment, and Outlook

  https://www.healthline.com/health/gaucher-disease-type-3

  There is no cure for Gaucher disease, but doctors can prescribe medications and treat some of the symptoms of type 3. […] In people with Gaucher disease type 3, GCase enzyme replacement therapy (ERT) may help improve some non-neurological symptoms. […] ERT is not helpful for the neurological damage in type 2 or 3 Gaucher disease because the replacement enzyme cannot cross into the brain. […] Doctors can also help manage symptoms with treatments such as blood transfusions, medications and supplements to address osteoporosis and bone pain, and surgeries like splenectomy or joint replacement when necessary. […] There is currently no cure for Gaucher disease. But therapies are available to help manage some of the symptoms associated with type 3 Gaucher disease. […] There is currently no treatment available for the neurological effects of Gaucher disease type 3, which can limit life expectancy. Research into new treatments is ongoing.

• #58

  https://link.springer.com/article/10.1007/s00223-024-01340-y

  Therapeutic options for GD include enzyme replacement therapy (ERT) or substrate reduction therapy (SRT), and hematopoietic stem cell transplantation may be an option for patients affected by severe GD with chronic neurologic involvement. […] ERT and SRT can also improve bone complications, albeit more slowly over time. […] This review describes the main bone complications in GD, then focusing on osteoporosis, describing its pathogenesis, epidemiology, diagnosis and treatment, and highlighting the main challenges of the disease, which should be addressed in future studies. […] The authors recommended assessment with DXA of the lumbar spine and left and right hips, considering potentially confounding focal disease, in all adult patients affected by GD. […] Observational investigations and clinical trials conducted on GD patients have described that reduced BMD levels compared by age and sex improve with ERT (imiglucerase, velaglucerase alfa, and taliglucerase alfa) or with SRT (miglustat and eliglustat).

• #59 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  Currently there are no approved gene therapies for Gaucher disease. There are several clinical trials involving several gene therapy modalities including a non-integrating AAV9 vector and integrating lentiviral vector. […] Partial and total splenectomy was once advocated in the treatment of patients with Gaucher disease. However, with the availability of ERT, this procedure is no longer necessary in most patients. […] In addition, patients with Gaucher disease may require hip replacements or other orthopedic procedures to treat skeletal disease. This is best undertaken after the patient has undergone several months of ERT.

• #60 Experts Believe Gene Therapy Offers Potential to Impact Gaucher Disease Market

  https://www.pharmaceutical-technology.com/analyst-comment/experts-gene-therapy-potential-impact-gaucher-disease-market/

  Gene therapy stands at the forefront of innovation, offering new possibilities for patients and a shift in the approach to treating this rare disease. […] According to several key opinion leaders (KOLs) interviewed by GlobalData, pipeline gene therapies hold the greatest potential to transform the Gaucher disease landscape. […] Current treatment modalities involve enzyme replacement therapy (ERT) to boost GCase levels and substrate reduction therapy (SRT) aimed at lowering glucocerebroside levels. […] While these therapies provide some benefit for type 1 and certain type 3 patients, there remain numerous unmet needs in particular, the lack of effective treatments for neuropathic manifestations experienced by type 2 and type 3 patients. […] As such, gene therapy stands as a potential solution to overcome this obstacle.

• #61

  https://patienteducation.asgct.org/disease-treatments/gaucher-disease

  Gene therapy is being researched to potentially slow or stop disease progression through a one-time treatment that delivers a working GBA gene into cells. […] There are treatment options available that can help manage symptoms of Gaucher disease, such as enzyme replacement therapy (ERT), which requires lifelong infusions and substrate reduction therapy (SRT) which require pills each day. […] However, these treatments do not address symptoms caused by the effect on the brain, so some may consider an investigational gene therapy as an option. […] Clinical trials are a required part of the research process that aims to understand the way a drug or treatment will interact with the human body and whether it is safe and effective. […] Gene therapy can be an alteration for the lifetime, so people should be aware that there could be long term effects (both good or bad) that are not known at this time. […] Gene therapy aims to be a one-time treatment with lasting positive effects that slow or stop disease progression for a lifetime.

• #62 Gaucher Disease Gene Therapy Clinical Trial (PROCEED)

  http://www.prevailtherapeutics.com/gaucher-disease-trial/

  This gene therapy clinical trial is focused on people with type 1 Gaucher disease (GD). […] The clinical trial will assess the safety, tolerability, and effectiveness of a gene therapy aimed at slowing the progression of type 1 Gaucher disease and its symptoms. […] This gene therapy aims to address the underlying cause of type 1 Gaucher disease, offering a different approach from current treatments that only manage symptoms. […] This clinical trial is testing a gene therapy for people with type 1 Gaucher disease. Each participant will receive the gene therapy through a one-time infusion given into a vein (intravenously). […] This gene therapy may help to slow the progression of type 1 Gaucher disease, but this is not guaranteed and there are risks to consider. […] If effective, this gene therapy may slow the clinical progression of type 1 Gaucher disease. However, results cannot be guaranteed.

• #63

  https://haematologica.org/article/view/4318

  Another novel therapeutic option is the use of more specific small molecules that either inhibit substrate synthesis (substrate deprivation) or act as a chaperone to increase the residual activity of the lysosomal enzyme (enzyme enhancing therapy) as reviewed by Sawkar et al. […] The near-future perspective remains life-long ERT or, for some patients, oral substrate deprivation therapy.

• #64 Gaucher disease – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/gaucher-disease/

  Substrate reduction therapy (SRT) works by reducing the amount of fat (GL1 substrate) made by the body that will eventually be turned into waste products. The goal is to limit the fat buildup (GL1 substrates) to a level that can be effectively cleared by the naturally occurring enzyme (all living people with Gaucher disease have a little enzyme) with residual activity. As SRT is a small molecule, the benefit is an oral medication. Miglustat is recommended as a treatment alternative for those with hypersensitivity to ERT or poor venous access (problems with multiple need sticks). Ceredelga is a first-line therapy for the treatment of adult patients with Gaucher disease. […] Currently, there is no cure for Gaucher disease, but there are treatments and medications available to manage symptoms. Gene therapy trials are underway with the promise for the future.

• #65 Recent advances in the diagnosis and management of Gaucher disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6129380/

  New forms of SRT engineered to cross the BBB are currently being developed and tested. […] Ultimately, the optimal therapeutic strategy may include a combination of therapies. ERT may be useful to initiate the debulking of diseased cells in patients with significant clinical disease burden. Subsequently, or in less-affected patients, SRT or chaperones may be able to prevent re-accumulation of the substrate. Combining ERT with chaperone therapy may lower the required dose and subsequent cost.

• #66 Gaucher Types 2 and 3 | Prenatal Enzyme Replacement for Lysosomal Diseases | PEARL Trial

  https://pearltrial.ucsf.edu/Gaucher-fetal-treatment

  UCSF has a clinical trial that may help. This trial starts treatment before birth. […] ERT for Gaucher disease types 2 and 3 replaces the missing enzyme with a medication called imiglucerase. This medication is normally administered after birth to reduce the severity of the disease. […] UCSF has an FDA-approved clinical trial to treat fetuses with Gaucher disease types 2 and 3 before birth. Treating before birth may improve outcomes and survival rates. […] By giving ERT before birth we may be able to prevent antibody creation long-term (also known as tolerance). […] Prenatal ERT is currently available through a clinical trial. It is a treatment given before birth to prevent or lessen the impact of Gaucher disease types 2 and 3. […] The PEARL Trial is the first to give Prenatal ERT for Gaucher disease types 2 and 3. This means that a fetus receives ERT before birth. The goal of this new strategy is to avoid the drawbacks of waiting until after birth for treatment.

• #67 Experts Believe Gene Therapy Offers Potential to Impact Gaucher Disease Market

  https://www.pharmaceutical-technology.com/analyst-comment/experts-gene-therapy-potential-impact-gaucher-disease-market/

  Gene therapy stands at the forefront of innovation, offering new possibilities for patients and a shift in the approach to treating this rare disease. […] According to several key opinion leaders (KOLs) interviewed by GlobalData, pipeline gene therapies hold the greatest potential to transform the Gaucher disease landscape. […] Current treatment modalities involve enzyme replacement therapy (ERT) to boost GCase levels and substrate reduction therapy (SRT) aimed at lowering glucocerebroside levels. […] While these therapies provide some benefit for type 1 and certain type 3 patients, there remain numerous unmet needs in particular, the lack of effective treatments for neuropathic manifestations experienced by type 2 and type 3 patients. […] As such, gene therapy stands as a potential solution to overcome this obstacle.

• #68 Experts Believe Gene Therapy Offers Potential to Impact Gaucher Disease Market

  https://www.pharmaceutical-technology.com/analyst-comment/experts-gene-therapy-potential-impact-gaucher-disease-market/

  Adenovirus-associated vector (AAV) gene therapy is a cutting-edge medical approach that utilises a modified version of the adenovirus, a virus that typically causes respiratory infections. […] This technique holds promise for treating Gaucher disease by introducing a healthy GBA1 gene into the patients cells, addressing the root cause of the disease. […] The advantage of AAV gene therapy lies in its ability to transport therapeutic genes efficiently and safely, as demonstrated by notable successes in treating spinal muscular atrophy and haemophilia. […] PR-001 utilises the adenovirus vector AAV9 to enable GCase synthesis, thereby facilitating glucocerebroside breakdown. […] Most significantly, one KOL emphasised that its a game-changer because you could offer a cure. […] Indeed, gene therapy holds the potential to offer a curative approach, a paradigm shift from existing treatments, which are expensive and ineffective at targeting neuropathic symptoms.

• #69 Experts Believe Gene Therapy Offers Potential to Impact Gaucher Disease Market

  https://www.pharmaceutical-technology.com/analyst-comment/experts-gene-therapy-potential-impact-gaucher-disease-market/

  Gene therapy stands at the forefront of innovation, offering new possibilities for patients and a shift in the approach to treating this rare disease. […] According to several key opinion leaders (KOLs) interviewed by GlobalData, pipeline gene therapies hold the greatest potential to transform the Gaucher disease landscape. […] Current treatment modalities involve enzyme replacement therapy (ERT) to boost GCase levels and substrate reduction therapy (SRT) aimed at lowering glucocerebroside levels. […] While these therapies provide some benefit for type 1 and certain type 3 patients, there remain numerous unmet needs in particular, the lack of effective treatments for neuropathic manifestations experienced by type 2 and type 3 patients. […] As such, gene therapy stands as a potential solution to overcome this obstacle.

• #70 Advancements in Viral Gene Therapy for Gaucher Disease

  https://www.mdpi.com/2073-4425/15/3/364

  For adults, including those unable to access or tolerate ERT, oral substrate reduction therapy (SRT) is a second option for the treatment of GD. […] While current therapies for GD are highly effective and life-changing for many patients, they entail high costs and must be taken regularly for the rest of a patient’s life. […] Gene therapy holds potential as a curative therapy for GD that could address the shortcomings associated with current treatment options. […] The ultimate goal of gene therapy is to modulate or manipulate the expression of genes in order to achieve a therapeutic effect in genetic disorders. […] Many LSDs, including GD, have neurological involvement. Gene therapy offers a special advantage for neurological disorders, as many of the vectors have unique properties that allow them to permeate the BBB.

• #71 Gaucher disease: Treatment – UpToDate

  https://www.uptodate.com/contents/gaucher-disease-treatment

  The basic goals of treatment are elimination or improvement of symptoms, prevention of irreversible complications, and improvement in the overall health and quality of life. An additional goal in children is optimization of growth. An international panel of clinicians with extensive clinical experience in GD developed a list of therapeutic goals for use as guides for optimal treatment. Regular monitoring is performed to assess the response to therapy, make adjustments when goals are not met, and ensure the maintenance of achieved goals. The frequency of reevaluation depends upon disease severity and should be assessed on an individual basis. […] Visceral, hematologic, skeletal, and other aspects of nonneuronopathic disease are considered separately since each of these components is relatively independent of the others with respect to disease burden and response to therapy. Skeletal manifestations are associated with the greatest morbidity and, once present, are among the least responsive to Gaucher-specific therapy. Enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) may slow or prevent progression of skeletal complications, but osteonecrosis, osteosclerosis, and vertebral compression are irreversible. Early treatment may prevent or lessen the severity of these complications, and therefore, early identification is crucial to improving ultimate outcome.

• #72 Gaucher disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/gauchers-disease/diagnosis-treatment/drc-20355551

  While there’s no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Some people have such mild symptoms that they don’t need treatment. […] Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you’ll need to be monitored will depend on your situation. […] Many people who have Gaucher disease have seen improvements in their symptoms after beginning treatment with: […] Enzyme replacement therapy. This approach replaces the deficient enzyme with artificial ones. These replacement enzymes are given in an outpatient procedure through a vein (intravenously), typically in high doses at two-week intervals. Occasionally people have an allergic or hypersensitivity reaction to enzyme treatment.

• #73 Gaucher disease: Treatment – UpToDate

  https://www.uptodate.com/contents/gaucher-disease-treatment

  The basic goals of treatment are elimination or improvement of symptoms, prevention of irreversible complications, and improvement in the overall health and quality of life. An additional goal in children is optimization of growth. An international panel of clinicians with extensive clinical experience in GD developed a list of therapeutic goals for use as guides for optimal treatment. Regular monitoring is performed to assess the response to therapy, make adjustments when goals are not met, and ensure the maintenance of achieved goals. The frequency of reevaluation depends upon disease severity and should be assessed on an individual basis. […] Visceral, hematologic, skeletal, and other aspects of nonneuronopathic disease are considered separately since each of these components is relatively independent of the others with respect to disease burden and response to therapy. Skeletal manifestations are associated with the greatest morbidity and, once present, are among the least responsive to Gaucher-specific therapy. Enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) may slow or prevent progression of skeletal complications, but osteonecrosis, osteosclerosis, and vertebral compression are irreversible. Early treatment may prevent or lessen the severity of these complications, and therefore, early identification is crucial to improving ultimate outcome.

• #74 Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion | Egyptian Journal of Medical Human Genetics | Full Text

  https://jmhg.springeropen.com/articles/10.1186/s43042-024-00552-z

  The size of the liver and spleen is measured using ultrasonography or magnetic resonance imaging at initial diagnosis and every 6 months. A complete blood count is carried out to assess cytopenia initially and every 6 months. […] Adult patients who usually carry the N370S homozygous genotype present very mild or sometimes even no symptoms of the disease; therefore, they might not require any GD-specific treatments. However, these patients should be regularly monitored at an interval of 6 months to detect poor prognosis early and thus avoid irreversible damage. […] Surgery is a common intervention in patients with GD to manage various ailments. For example, cholecystectomy is useful for gallstones prevalent in patients with GD. On the contrary, perioperative medical management of patients with GD is essential, especially in asplenic patients with a high risk of infection, patients with thrombocytopenia and/or platelet dysfunction and coagulopathies, and those who have a high risk of bleeding. Splenectomy is rarely indicated in the management of GD. […] The criteria for initiation of ERT are outlined in Table 3.

• #75

  https://link.springer.com/article/10.1007/s00223-024-01340-y

  Therapeutic options for GD include enzyme replacement therapy (ERT) or substrate reduction therapy (SRT), and hematopoietic stem cell transplantation may be an option for patients affected by severe GD with chronic neurologic involvement. […] ERT and SRT can also improve bone complications, albeit more slowly over time. […] This review describes the main bone complications in GD, then focusing on osteoporosis, describing its pathogenesis, epidemiology, diagnosis and treatment, and highlighting the main challenges of the disease, which should be addressed in future studies. […] The authors recommended assessment with DXA of the lumbar spine and left and right hips, considering potentially confounding focal disease, in all adult patients affected by GD. […] Observational investigations and clinical trials conducted on GD patients have described that reduced BMD levels compared by age and sex improve with ERT (imiglucerase, velaglucerase alfa, and taliglucerase alfa) or with SRT (miglustat and eliglustat).

• #76 Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion | Egyptian Journal of Medical Human Genetics | Full Text

  https://jmhg.springeropen.com/articles/10.1186/s43042-024-00552-z

  The size of the liver and spleen is measured using ultrasonography or magnetic resonance imaging at initial diagnosis and every 6 months. A complete blood count is carried out to assess cytopenia initially and every 6 months. […] Adult patients who usually carry the N370S homozygous genotype present very mild or sometimes even no symptoms of the disease; therefore, they might not require any GD-specific treatments. However, these patients should be regularly monitored at an interval of 6 months to detect poor prognosis early and thus avoid irreversible damage. […] Surgery is a common intervention in patients with GD to manage various ailments. For example, cholecystectomy is useful for gallstones prevalent in patients with GD. On the contrary, perioperative medical management of patients with GD is essential, especially in asplenic patients with a high risk of infection, patients with thrombocytopenia and/or platelet dysfunction and coagulopathies, and those who have a high risk of bleeding. Splenectomy is rarely indicated in the management of GD. […] The criteria for initiation of ERT are outlined in Table 3.

• #77 Gaucher Disease Treatment | National Gaucher Foundation

  https://www.gaucherdisease.org/gaucher-diagnosis-treatment/treatment/

  In addition to ERT and SRT, which address enzyme deficiency and glucocerebroside accumulation, you may need other treatments for symptoms and complications of Gaucher disease. […] It is essential to work with a Gaucher specialist who can help you determine your best treatment option and manage your symptoms. […] The National Institutes of Health is sponsoring the clinical trial, and anyone who is eligible can apply.

• #78 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  For most patients with Gaucher disease in the United States, treatment with ERT is typically guided by a geneticist or a hematologist. Patients should receive periodic follow-up at a center familiar with Gaucher disease, if possible. […] ERT has a remarkable effect on hepatosplenomegaly, with an average overall decrease of 25% in liver and spleen volume after 6 months of therapy. In most patients with anemia, hemoglobin levels rise by 1.5 g/dL during the first 4-6 months of therapy. An additional increase of 1 g/dL is observed in the subsequent 9-18 months in patients with persistent anemia. The platelet count responds more slowly, doubling on average over 1 year. The hematologic status of patients with splenomegaly must be closely monitored, and splenectomy is still occasionally necessary.

• #79 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/944157-treatment

  For most patients with Gaucher disease in the United States, treatment with ERT is typically guided by a geneticist or a hematologist. Patients should receive periodic follow-up at a center familiar with Gaucher disease, if possible. […] ERT has a remarkable effect on hepatosplenomegaly, with an average overall decrease of 25% in liver and spleen volume after 6 months of therapy. In most patients with anemia, hemoglobin levels rise by 1.5 g/dL during the first 4-6 months of therapy. An additional increase of 1 g/dL is observed in the subsequent 9-18 months in patients with persistent anemia. The platelet count responds more slowly, doubling on average over 1 year. The hematologic status of patients with splenomegaly must be closely monitored, and splenectomy is still occasionally necessary.

• #80 National Gaucher Disease Treatment Center < National Gaucher Disease Treatment Center

  https://medicine.yale.edu/internal-medicine/gaucher/forpatients/

  The National Gaucher Disease Treatment Center brings together multidisciplinary expertise to diagnosis and treat Gaucher Disease (Types 1-3). Our comprehensive approach is to diagnosis and evaluate the burden of disease through a series of tests, all conducted at our facility. We are then able to identify the optimal treatment path for each patient.

• #81 National Gaucher Disease Treatment Center < National Gaucher Disease Treatment Center

  https://medicine.yale.edu/internal-medicine/gaucher/

  Welcome to the Yale School of Medicine Lysosomal Disease Center website. For more than a decade, we have striven towards excellence in clinical care, research and education in Gaucher disease, the prototype lysosomal storage disease. […] Our Core mission is advancing patient care through cutting edge clinical translational research to enhance predictive evaluation and monitoring while offering a wide repertoire of therapies. […] We currently offer comprehensive clinical and research programs in Gaucher disease that include clinical trials, research utilizing disease Registries, mechanism of bone disease, whole genome analysis, biomarker discovery, multiple myeloma, liver cancers, Parkinsons disease and authentic mouse models of Gaucher disease.

• #82 Enzyme Replacement Therapy for Gaucher Disease

  https://www.gaucherdisease.org/gaucher-diagnosis-treatment/treatment/enzyme-replacement-therapy/

  Talk to a Gaucher specialist to find out which enzyme replacement therapy drug and treatment option is right for you. […] In addition to ERT infusion drugs, oral substrate reduction therapy (SRT) is also available for treating Gaucher disease. […] Working with a Gaucher specialist is key to determining which treatment is right for you. […] Pros of using ERT to treat Gaucher disease include fewer side effects, longer drug history, and wider availability. […] Cons of taking ERT as a Gaucher disease treatment include inconvenience, more invasive procedures, and fluctuations in patient well-being. […] ERT can be very expensive, totaling up to $200,000 or more each year. […] Learn more about financial support for help paying for Gaucher disease treatment.

• #83 Gaucher’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Gaucher%27s_disease

  For those with type-I and most type-III, enzyme replacement treatment with intravenous recombinant glucocerebrosidase can decrease liver and spleen size, reduce skeletal abnormalities, and reverse other manifestations. This treatment costs about US$200,000 annually for a single person and should be continued for life. […] The first drug for Gaucher’s was alglucerase (Ceredase), which was a version of glucocerebrosidase that was harvested from human placental tissue and then modified with enzymes. It was approved by the FDA in 1991 and has been withdrawn from the market due to the approval of similar drugs made with recombinant DNA technology instead of being harvested from tissue; drugs made recombinantly are preferable since there is no concern about diseases being transmitted from the tissue used in harvesting, there are fewer risks of variations in enzyme structure from batch to batch, and they are less expensive to manufacture.

• #84 Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion | Egyptian Journal of Medical Human Genetics | Full Text

  https://jmhg.springeropen.com/articles/10.1186/s43042-024-00552-z

  Considering the high cost of ERT, patient selection and disease monitoring are mandatory. […] The SRT for GD utilizes the inhibitor of glucosylceramide synthase to balance the glucosylceramidase level. The Food and Drug Administration has approved two oral SRTs for the treatment of GD: miglustat (Zavesca; Actelion Pharmaceuticals, Allschwil, Switzerland) in 2003 and eliglustat tartrate (Cerdelga; Sanofi Genzyme, Cambridge, Massachusetts) in 2014. […] Molecular chaperones can potentially restore the functionality of the mutant GBA by facilitating the production of functional enzymes. Utilizing molecular chaperones to treat GD is still in the initial phases of development. However, the pilot studies on ambroxol suggest the effectiveness of this therapy and call for further research. […] The treatment of choice aims at addressing certain symptoms or complications of GD directly, which is identified as a short-term effect and/or maintenance of the long-term effect.

• #85 Treatment – Gaucher ANZ

  https://gaucheranz.com.au/about-gaucher/treatment/

  The Federal Department of Health’s Life Saving Drug Program (LSDP) funds the treatment for Gaucher Disease, subject to the guideline conditions. More information can be found regarding the LSDP and these guidelines here. […] Pharmac is the New Zealand government agency that decides which pharmaceuticals to publicly fund medication in NZ. Pharmac funds treatment for Gaucher subject to the guideline conditions.

• #86 Enzyme Replacement Therapy for Gaucher Disease

  https://www.gaucherdisease.org/gaucher-diagnosis-treatment/treatment/enzyme-replacement-therapy/

  Talk to a Gaucher specialist to find out which enzyme replacement therapy drug and treatment option is right for you. […] In addition to ERT infusion drugs, oral substrate reduction therapy (SRT) is also available for treating Gaucher disease. […] Working with a Gaucher specialist is key to determining which treatment is right for you. […] Pros of using ERT to treat Gaucher disease include fewer side effects, longer drug history, and wider availability. […] Cons of taking ERT as a Gaucher disease treatment include inconvenience, more invasive procedures, and fluctuations in patient well-being. […] ERT can be very expensive, totaling up to $200,000 or more each year. […] Learn more about financial support for help paying for Gaucher disease treatment.

• #87 Individualization of long-term enzyme replacement therapy for Gaucher disease | Genetics in Medicine

  https://www.nature.com/articles/gim200519

  The initial ERT dose should be determined in the context of the existing severity of disease and the likelihood for continued, progressive, or new-onset complications. […] Generally, the recommended initial imiglucerase dose in adults and children at increased risk is 60 units/kg body weight every 2 weeks. […] Upon achieving the therapeutic goals, a clinician’s decision to change the dose should be implemented based on the history and objective evidence of disease status and course. […] The individualized approach to imiglucerase treatment as described above is the most efficient and cost-effective method for improving the outcome and health of patients with type 1 Gaucher disease.

• #88

  https://www.indianpediatrics.net/feb2018/feb-143-153.htm

  Justification: Gaucher disease (GD) is amongst the most frequently occurring lysosomal storage disorder in all ethnicities. […] The guidelines are intended to serve as a standard framework for treating physicians and the health care systems for optimal management of Gaucher disease in India and to define unique needs of this patient population. […] Enzyme replacement therapy for type 1 and type 3 Gaucher disease is the standard of care. Best outcomes are achieved by early initiation of therapy before onset of irreversible complications. […] The disease specific management of GD includes enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). […] Therapy with ERT significantly ameliorates organomegaly and improves hematological manifestations, as also the skeletal manifestations, prevent avascular necrosis, and reverse, growth failure in Gaucher disease type 1.

• #89 Enzyme Replacement or Substrate Reduction? A Review of Gaucher Disease Treatment Options

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4981103/

  Gaucher disease is a rare lysosomal storage disease resulting from a deficiency or reduced activity in the acid -glucocosidase enzyme. Only 1 treatment option was available for 15 years, but several new treatment options have come to market since 2003. […] Enzyme replacement therapy is preferred for the management of Gaucher disease. Current literature does not favor any enzyme replacement product over another. However, velaglucerase alfa and taliglucerase alfa theoretically have a lower risk of immunogenicity reactions compared with imiglucerase. […] Enzyme replacement therapy is preferred for treating type 1 Gaucher disease and substrate replacement therapy may be considered in patients who do not tolerate or cannot receive enzyme replacement therapy. […] Enzyme replacement therapy is considered first-line treatment for patients with type 1 Gaucher disease in the 2014 draft joint proposal on treatment of Gaucher disease by European Medicine Agency (EMA) and the FDA.

• #90 Gaucher disease treatment | Gaucher Disease News

  https://gaucherdiseasenews.com/approved-treatments/

  Gaucher disease type 2 treatment essentially consists of supportive care and palliative treatment to make patients and their families comfortable. […] Gaucher disease type 3 treatment may involve ERT to manage non-neurological complications of the disease. […] Research is ongoing to look for new ways to treat the different types of Gaucher disease.

• #91 Gaucher disease – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/gaucher-disease/

  Substrate reduction therapy (SRT) works by reducing the amount of fat (GL1 substrate) made by the body that will eventually be turned into waste products. The goal is to limit the fat buildup (GL1 substrates) to a level that can be effectively cleared by the naturally occurring enzyme (all living people with Gaucher disease have a little enzyme) with residual activity. As SRT is a small molecule, the benefit is an oral medication. Miglustat is recommended as a treatment alternative for those with hypersensitivity to ERT or poor venous access (problems with multiple need sticks). Ceredelga is a first-line therapy for the treatment of adult patients with Gaucher disease. […] Currently, there is no cure for Gaucher disease, but there are treatments and medications available to manage symptoms. Gene therapy trials are underway with the promise for the future.

• #92 Experts Believe Gene Therapy Offers Potential to Impact Gaucher Disease Market

  https://www.pharmaceutical-technology.com/analyst-comment/experts-gene-therapy-potential-impact-gaucher-disease-market/

  As research and development progress, these insights emphasise the gene therapy’s capability to disrupt the current Gaucher drug market. […] With the prospect of providing a cure and addressing unmet needs, gene therapy stands at the forefront of innovation, offering new possibilities for patients and a shift in the approach to treating this rare disease.

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