Materiały źródłowe

• #1 Nursing Care for a Child with Niemann-Pick Type C Disease: Case Report [J Educ Res Nurs]

  https://jer-nursing.org/jvi.aspx?pdir=jern&plng=eng&un=JERN-93823&look4=

  Niemann-Pick disease is a rare, autosomal recessive lysosomal lipid storage disorder characterized by the accumulation of sphingomyelin and cholesterol in various organs in the body, especially in the reticuloendothelial system and central nervous system. […] Standard nursing interventions were performed by making a nursing diagnosis on the child of impaired respiratory function (dysfunctional ventilatory weaning response), delayed growth and development, ineffective protection (impairment in skin integrity), disturbed sleep pattern, ineffective thermoregulation, disorganized infant behaviours, impaired risk in oral mucous membranes, aspiration risk, and by diagnosing the mother with anxiety, hopelessness, and caregiver role strain.

• #2 Niemann-Pick Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK556129/

  The management of Niemann-Pick disease and new approaches have been recently introduced. […] This activity reviews the etiology, epidemiology, and pathophysiology of Niemann-Pick disease and focuses on the evaluation, management, and complications of the disease, and highlights the interprofessional team’s role in fostering the best possible outcomes to patients with Niemann-Pick disease. […] Explain the interprofessional team’s role in planning care and highlight the importance of coordinated communication with other professionals in improving clinical outcomes and lowering complications. […] For type A and B Niemann-Pick disease (NPD), there is no cure. Supportive care is the mainstay of treatment. […] For type C disease, supportive care is also the mainstay of treatment. Physical therapy is provided for neurological symptoms.

• #3 Niemann-Pick disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/niemann-pick/diagnosis-treatment/drc-20355890

  Our caring team of Mayo Clinic experts can help you with your Niemann-Pick disease-related health concerns […] No cure exists for Niemann-Pick disease, but supportive care can help manage symptoms. […] People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. […] Discuss medicines, including possible side effects, with your doctor or other healthcare professional. […] Therapies for all types of Niemann-Pick disease depend on symptoms and may include: […] Ask your healthcare team about supportive resources. Also talk with your healthcare team about when it’s time to plan end-of life care. […] You may find it helpful to connect with others who are living with Niemann-Pick disease. […] Being part of clinical trials may help in the search for effective treatments.

• #4 Niemann-Pick disease | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/niemann-pick-disease

  No cure exists for Niemann-Pick disease, but supportive care can help manage symptoms. […] Therapies for all types of Niemann-Pick disease depend on symptoms and may include: Speech, physical and occupational therapy. Physical therapy and occupational therapy can help keep the ability to move as long as possible. Speech therapy may help with talking and swallowing. […] People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. Research for new treatments is ongoing. […] If you or your child is diagnosed with Niemann-Pick disease, your family may face challenges and uncertainties. One of the most difficult things about this condition is that it’s not possible to predict how health and development will change over time. […] You or your child will likely require more care as the condition changes. Ask your healthcare team about supportive resources. Also talk with your healthcare team about when it’s time to plan end-of life care.

• #5 Newborn Screening Program – Niemann-Pick Disease

  http://www.idph.state.il.us/healthwellness/fs/niemann_pick.htm

  Individuals with Niemann-Pick disease are best treated by a team of specialists knowledgeable about the disease, who can offer supportive and symptomatic care. […] Use a multidisciplinary approach for long-term management including specialists from pediatrics, genetics, and others experienced with managing individuals with Niemann-Pick disease. […] Ensure that parents understand that treatment for Niemann-Pick disease is not curative and that morbidity cannot always be prevented. […] Recommend genetic counseling services to help the parents understand the complexity surrounding the carrier state and inheritance of this disease. […] Provide parents information on support services, such as the National Niemann-Pick Disease Foundation, early intervention service providers, and the local health department.

• #6 Niemann-Pick Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK556129/

  The condition is best managed by an interprofessional team that includes a hepatologist or gastroenterologist, endocrinologist, neurologist, and genetic counselor. […] Also, family care, nursing support, and social support are an integral part of the management. […] Patient education is crucial, and social worker involvement, including a geneticist, is essential. […] Nurses should educate patients on the importance of treatment compliance to avoid or halt serious complications and monitor treatment progress.

• #7 Niemann-Pick disease – Care at Mayo Clinic – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/niemann-pick/care-at-mayo-clinic/mac-20355892

  Mayo Clinic experts in Niemann-Pick disease work together to provide exactly the care you need. […] Pediatric experts at the Mayo Clinic Children’s Center focus on one child and family at a time. Working as a team, medical professionals from multiple specialties discuss care and then talk with you to set goals. Together you develop a customized evaluation and treatment plan for your child with Niemann-Pick disease. […] Mayo Clinic doctors have years of experience in caring for people who have Niemann-Pick disease. Mayo Clinic specialists are experts in this complicated disease and are experienced at being able to distinguish Niemann-Pick disease from other diseases with similar symptoms. […] Highly skilled pediatric experts diagnose and treat all types of conditions in children. As a team, we work together to find answers, set goals and develop a treatment plan tailored to your child’s needs.

• #8 Niemann-Pick Disease Type C (NPC) – Rare Awareness Rare Education

  https://rareportal.org.au/rare-disease/niemann-pick-disease-type-c-npc/

  Clinical Care Guidelines for Niemann-Pick disease type C, published in 2018, have been developed by the International Niemann-Pick Disease Registry (INPDR) consortium consisting of expert physicians, geneticists, allied healthcare professionals and patient support groups from 13 countries, including Australia. […] Treatment of Niemann-Pick disease type C (NPC) mainly involves strategies to manage the symptoms, which may involve a multidisciplinary medical team. This will depend on the individuals specific symptoms. Management strategies may consist of physical, occupational and speech therapy, as well as monitoring of growth, hearing, feeding and swallowing, bowel and bladder function, and mental wellbeing. […] Healthcare professionals involved in the treatment of Niemann-Pick disease type C (NPC) may include general practitioners (GP), paediatricians, geneticists, neurologists, ophthalmologists, pulmonologists, psychiatrists, physical therapists, occupational therapists, and speech therapists. The need for different healthcare professionals may change over a persons lifetime and extend beyond those listed here.

• #9 Niemann-Pick Disease | Baby’s First Test | Newborn Screening | Baby Health

  https://babysfirsttest.org/newborn-screening/conditions/niemann-pick-disease

  Work with your babys health care provider to determine the next steps for your babys care. Your babys doctor may help you coordinate care with a dietician, a physical therapist, physicians who specialize in metabolism, hepatology, neurology, and cardiology, and other medical resources in your community. […] Because NPD is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for NPD, and understand what this diagnosis means for other family members and future pregnancies.

• #10 Niemann-Pick Disease Type C | Children’s Hospital Pittsburgh

  https://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/niemann-pick-disease-type-c

  Children with NPC may have trouble moving their eyes up and down. […] By the end of your visit, you’ll have a NPC care plan tailored to your child’s needs. […] You’ll meet our nurse practitioner. You can contact them by phone or video conference with any concerns before your next visit. […] At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.

• #11 Niemann-Pick disease – Care at Mayo Clinic – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/niemann-pick/care-at-mayo-clinic/mac-20355892

  Mayo Clinic experts in Niemann-Pick disease work together to provide exactly the care you need. […] Pediatric experts at the Mayo Clinic Children’s Center focus on one child and family at a time. Working as a team, medical professionals from multiple specialties discuss care and then talk with you to set goals. Together you develop a customized evaluation and treatment plan for your child with Niemann-Pick disease. […] Mayo Clinic doctors have years of experience in caring for people who have Niemann-Pick disease. Mayo Clinic specialists are experts in this complicated disease and are experienced at being able to distinguish Niemann-Pick disease from other diseases with similar symptoms. […] Highly skilled pediatric experts diagnose and treat all types of conditions in children. As a team, we work together to find answers, set goals and develop a treatment plan tailored to your child’s needs.

• #12 Niemann-Pick Disease Type A | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/niemann-pick-disease-type

  At the Boston Childrens Lysosomal Storage Disorders (BoLD) Program, our team of providers is committed to the care of complex patients. […] We work with the broad array of world-class specialists at Boston Childrens to optimize the care we provide your child with Niemann-Pick disease type A. […] Current approaches to Niemann-Pick disease type A involve supportive therapies and targeted management for specific symptoms.

• #13 Niemann-Pick Disease Type C | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/niemann-pick-disease-type-c

  At the Boston Childrens Lysosomal Storage Disorders (BoLD) Program, our team of providers is committed to the care of complex patients. […] We work with the broad array of world-class specialists at Boston Childrens to optimize the care we provide your child with Niemann-Pick disease type C. […] Current approaches to Niemann-Pick disease type C involve supportive therapies and targeted management for specific symptoms.

• #14 Niemann-Pick disease | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/niemann-pick-disease

  No cure exists for Niemann-Pick disease, but supportive care can help manage symptoms. […] Therapies for all types of Niemann-Pick disease depend on symptoms and may include: Speech, physical and occupational therapy. Physical therapy and occupational therapy can help keep the ability to move as long as possible. Speech therapy may help with talking and swallowing. […] People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. Research for new treatments is ongoing. […] If you or your child is diagnosed with Niemann-Pick disease, your family may face challenges and uncertainties. One of the most difficult things about this condition is that it’s not possible to predict how health and development will change over time. […] You or your child will likely require more care as the condition changes. Ask your healthcare team about supportive resources. Also talk with your healthcare team about when it’s time to plan end-of life care.

• #15 Niemann-Pick Disease | Baby’s First Test | Newborn Screening | Baby Health

  https://babysfirsttest.org/newborn-screening/conditions/niemann-pick-disease

  Your babys doctor may ask you if your baby is showing any of the signs of Niemann-Pick disease (see Early Signs below). If your baby has certain signs, your babys doctor may suggest starting immediate treatment. […] Follow-up testing will involve checking your babys blood for signs of NPD. When a child has a lysosomal storage disorder, an enzyme that helps the body breakdown fats is either missing or not working properly. Evaluating the activity of this enzyme in your babys body can help doctors determine if your baby has the condition. […] A nutritionist or dietician can help you monitor your babys calorie intake and plan a diet that will provide the nutrients they need. In some cases, a feeding tube may be necessary. […] Your babys health care provider may recommend physical and occupational therapy to encourage movement and prevent contracture (the tightening of your babys muscles and tendons).

• #16 Niemann-Pick Disease Type C Signs & Symptoms | Rush | Rush System

  https://www.rush.edu/kids/conditions/niemann-pick-disease-type-c

  Niemann-Pick disease type C is caused by a rare genetic mutation that prevents the body from properly processing cholesterol. […] Niemann-Pick disease type C is a serious neurologic condition that causes progressive mental and physical decline in children. […] Children with Niemann-Pick disease type C struggle with movement and gradually lose the ability to speak and eventually the ability to think. […] There is currently no cure for Niemann-Pick disease type C, and there is no FDA-approved treatment to halt the diseases progression. Instead, treatment typically revolves around alleviating symptoms with medications and complementary therapies that address the following: Seizures, Sleep disturbances, Mobility issues, Communication challenges, Feeding problems.

• #17 Niemann-Pick disease | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/niemann-pick-disease

  No cure exists for Niemann-Pick disease, but supportive care can help manage symptoms. […] Therapies for all types of Niemann-Pick disease depend on symptoms and may include: Speech, physical and occupational therapy. Physical therapy and occupational therapy can help keep the ability to move as long as possible. Speech therapy may help with talking and swallowing. […] People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. Research for new treatments is ongoing. […] If you or your child is diagnosed with Niemann-Pick disease, your family may face challenges and uncertainties. One of the most difficult things about this condition is that it’s not possible to predict how health and development will change over time. […] You or your child will likely require more care as the condition changes. Ask your healthcare team about supportive resources. Also talk with your healthcare team about when it’s time to plan end-of life care.

• #18 Niemann-Pick disease type C1 | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/niemann-pick-disease-type-c1/

  Niemann-Pick disease type C can be caused by mutations in two different genes. […] Treatment focuses on managing symptoms with medication for seizures, sedatives for sleep disturbances, physical therapy to maintain mobility, and speech therapy to preserve communication as long as possible. […] Individuals with the condition need a gastronomy tube for feeding when they can no longer swallow well enough to avoid choking or malnutrition.

• #19 Niemann-Pick Disease | Baby’s First Test | Newborn Screening | Baby Health

  https://babysfirsttest.org/newborn-screening/conditions/niemann-pick-disease

  Your babys doctor may ask you if your baby is showing any of the signs of Niemann-Pick disease (see Early Signs below). If your baby has certain signs, your babys doctor may suggest starting immediate treatment. […] Follow-up testing will involve checking your babys blood for signs of NPD. When a child has a lysosomal storage disorder, an enzyme that helps the body breakdown fats is either missing or not working properly. Evaluating the activity of this enzyme in your babys body can help doctors determine if your baby has the condition. […] A nutritionist or dietician can help you monitor your babys calorie intake and plan a diet that will provide the nutrients they need. In some cases, a feeding tube may be necessary. […] Your babys health care provider may recommend physical and occupational therapy to encourage movement and prevent contracture (the tightening of your babys muscles and tendons).

• #20 Sphingomyelinase Deficiency Treatment & Management: Medical Care, Surgical Care, Further Care

  https://emedicine.medscape.com/article/951564-treatment

  Other medical and surgical care for Niemann-Pick disease (NPD) types A and B are mainly focused on supportive care. […] Transfusion of blood products may be necessary for acute episodes of bleeding secondary to hypersplenism and thrombocytopenia in NPD type B patients. […] Pulmonary infections occur frequently in patients with Niemann-Pick disease (NPD) types A and B. […] Patients with type A disease may develop respiratory decompensation, requiring inpatient care for stabilization during severe episodes. […] Pediatric patients with NPD type B require frequent meals to promote growth. […] In patients with NPD type A, feeding becomes a major difficulty as the disease progresses. […] Patients with NPD type B disease and splenomegaly should avoid contact sports because of the risk of splenic rupture. […] Evaluation and ongoing care by a trained metabolic geneticist should occur. […] Patients with NPD type B should undergo annual pulmonary function testing and evaluation.

• #21 Amsterdam UMC Locatie AMC – Niemann Pick disease type A/B

  https://www.amc.nl/web/research-75/spinx/niemann-pick-disease-type-ab.htm

  Currently the only treatment available for all phenotypes of Niemann Pick type A/B is supportive care. […] In severely affected infants with Niemann Pick type A this may consist of placement of a feeding tube and treatment of recurrent infections. […] Patients with the attenuated form Niemann Pick type B are treated with cholesterol lowering agents such as statins to reduce atherogenic lipid profiles. […] Liver transplantation has been performed in patients with end-stage liver failure. […] Unfortunately there is no specific treatment for Niemann Pick type A/B. […] Enzyme replacement therapy with recombinant ASM (olipudase alfa, Sanofi Genzyme) is under clinical evaluation for patients with Niemann Pick type B, the attenuated phenotype.

• #22 Sphingomyelinase Deficiency Treatment & Management: Medical Care, Surgical Care, Further Care

  https://emedicine.medscape.com/article/951564-treatment

  Other medical and surgical care for Niemann-Pick disease (NPD) types A and B are mainly focused on supportive care. […] Transfusion of blood products may be necessary for acute episodes of bleeding secondary to hypersplenism and thrombocytopenia in NPD type B patients. […] Pulmonary infections occur frequently in patients with Niemann-Pick disease (NPD) types A and B. […] Patients with type A disease may develop respiratory decompensation, requiring inpatient care for stabilization during severe episodes. […] Pediatric patients with NPD type B require frequent meals to promote growth. […] In patients with NPD type A, feeding becomes a major difficulty as the disease progresses. […] Patients with NPD type B disease and splenomegaly should avoid contact sports because of the risk of splenic rupture. […] Evaluation and ongoing care by a trained metabolic geneticist should occur. […] Patients with NPD type B should undergo annual pulmonary function testing and evaluation.

• #23 Sphingomyelinase Deficiency Treatment & Management: Medical Care, Surgical Care, Further Care

  https://emedicine.medscape.com/article/951564-treatment

  Other medical and surgical care for Niemann-Pick disease (NPD) types A and B are mainly focused on supportive care. […] Transfusion of blood products may be necessary for acute episodes of bleeding secondary to hypersplenism and thrombocytopenia in NPD type B patients. […] Pulmonary infections occur frequently in patients with Niemann-Pick disease (NPD) types A and B. […] Patients with type A disease may develop respiratory decompensation, requiring inpatient care for stabilization during severe episodes. […] Pediatric patients with NPD type B require frequent meals to promote growth. […] In patients with NPD type A, feeding becomes a major difficulty as the disease progresses. […] Patients with NPD type B disease and splenomegaly should avoid contact sports because of the risk of splenic rupture. […] Evaluation and ongoing care by a trained metabolic geneticist should occur. […] Patients with NPD type B should undergo annual pulmonary function testing and evaluation.

• #24 Sphingomyelinase Deficiency Treatment & Management: Medical Care, Surgical Care, Further Care

  https://emedicine.medscape.com/article/951564-treatment

  Other medical and surgical care for Niemann-Pick disease (NPD) types A and B are mainly focused on supportive care. […] Transfusion of blood products may be necessary for acute episodes of bleeding secondary to hypersplenism and thrombocytopenia in NPD type B patients. […] Pulmonary infections occur frequently in patients with Niemann-Pick disease (NPD) types A and B. […] Patients with type A disease may develop respiratory decompensation, requiring inpatient care for stabilization during severe episodes. […] Pediatric patients with NPD type B require frequent meals to promote growth. […] In patients with NPD type A, feeding becomes a major difficulty as the disease progresses. […] Patients with NPD type B disease and splenomegaly should avoid contact sports because of the risk of splenic rupture. […] Evaluation and ongoing care by a trained metabolic geneticist should occur. […] Patients with NPD type B should undergo annual pulmonary function testing and evaluation.

• #25 Sphingomyelinase Deficiency Treatment & Management: Medical Care, Surgical Care, Further Care

  https://emedicine.medscape.com/article/951564-treatment

  Other medical and surgical care for Niemann-Pick disease (NPD) types A and B are mainly focused on supportive care. […] Transfusion of blood products may be necessary for acute episodes of bleeding secondary to hypersplenism and thrombocytopenia in NPD type B patients. […] Pulmonary infections occur frequently in patients with Niemann-Pick disease (NPD) types A and B. […] Patients with type A disease may develop respiratory decompensation, requiring inpatient care for stabilization during severe episodes. […] Pediatric patients with NPD type B require frequent meals to promote growth. […] In patients with NPD type A, feeding becomes a major difficulty as the disease progresses. […] Patients with NPD type B disease and splenomegaly should avoid contact sports because of the risk of splenic rupture. […] Evaluation and ongoing care by a trained metabolic geneticist should occur. […] Patients with NPD type B should undergo annual pulmonary function testing and evaluation.

• #26 Niemann-Pick disease, SMPD1-related | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/niemann-pick-disease-smpd1-related/

  There are currently no effective treatments for NPD-A. Medical professionals can attempt to treat the symptoms through physical therapy, monitoring of nutrition, and medication to help sleep disorders. However, treatment cannot stop the decline caused by the disease. […] There is no treatment to address the cause of NPD-B. However, individual symptoms such as high cholesterol can be addressed. Those with clotting problems may need blood transfusions, while those with breathing problems may need supplemental oxygen. Individuals with NPD-B should be monitored to ensure they are getting the proper nutrition for growth from their diet.

• #27 Niemann-Pick disease // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/niemann-pick-disease

  You or your child will likely require more care as the condition changes. Ask your healthcare team about supportive resources. Also talk with your healthcare team about when it’s time to plan end-of life care. […] Discuss medicines, including possible side effects, with your doctor or other healthcare professional.

• #28 Niemann-Pick disease

  https://adamcertificationdemo.adam.com/content.aspx?productid=141&isarticlelink=false&pid=1&gid=001207

  Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain. […] At this time, there is no effective treatment for the neurologic symptoms of type A. Enzyme replacement with olipudase alfa was approved by the FDA in 2022 to treat non-central nervous system symptoms. […] Bone marrow transplants may be tried for type B. Enzyme replacement with olipudase alfa is approved by the FDA to treat non-central nervous system symptoms of type B. […] A medicine called miglustat is available for the nervous system symptoms of type C. […] High cholesterol may be managed with a healthy, low-cholesterol diet or medicines. However, research does not show that these methods stop the disease from getting worse or change how cells break down cholesterol. Medicines are available to regulate or relieve many symptoms, such as sudden loss of muscle tone and seizures.

• #29 FDA Approves Stand-Alone Therapy Levacetylleucine for Niemann-Pick Disease Type C

  https://www.neurologylive.com/view/fda-approves-stand-alone-thearpy-levacetylleucine-niemann-pick-disease-type-c

  Levacetylleucine met primary and secondary end points in a phase 3 trial, showing significant improvements in ataxia and neurological symptoms. […] The FDA’s approval of levacetylleucine provides a new therapeutic option for patients with Niemann-Pick disease type C, addressing a long-standing unmet need. […] The safety profile of levacetylleucine was favorable, with no serious adverse events reported during the clinical trial. […] „For too long, our community has been without an approved therapy for the treatment of NPC. Today we celebrate this tremendous milestone for individuals and families living with NPC.” […] We are ready to help families embark on this new chapter of treatment.

• #30 Niemann-Pick Disease Type C Signs & Symptoms | Rush | Rush System

  https://www.rush.edu/kids/conditions/niemann-pick-disease-type-c

  Niemann-Pick disease type C is caused by a rare genetic mutation that prevents the body from properly processing cholesterol. […] Niemann-Pick disease type C is a serious neurologic condition that causes progressive mental and physical decline in children. […] Children with Niemann-Pick disease type C struggle with movement and gradually lose the ability to speak and eventually the ability to think. […] There is currently no cure for Niemann-Pick disease type C, and there is no FDA-approved treatment to halt the diseases progression. Instead, treatment typically revolves around alleviating symptoms with medications and complementary therapies that address the following: Seizures, Sleep disturbances, Mobility issues, Communication challenges, Feeding problems.

• #31 Niemann-Pick Disease Type C Signs & Symptoms | Rush | Rush System

  https://www.rush.edu/kids/conditions/niemann-pick-disease-type-c

  Niemann-Pick disease type C is caused by a rare genetic mutation that prevents the body from properly processing cholesterol. […] Niemann-Pick disease type C is a serious neurologic condition that causes progressive mental and physical decline in children. […] Children with Niemann-Pick disease type C struggle with movement and gradually lose the ability to speak and eventually the ability to think. […] There is currently no cure for Niemann-Pick disease type C, and there is no FDA-approved treatment to halt the diseases progression. Instead, treatment typically revolves around alleviating symptoms with medications and complementary therapies that address the following: Seizures, Sleep disturbances, Mobility issues, Communication challenges, Feeding problems.

• #32 Amsterdam UMC Locatie AMC – Niemann Pick disease type A/B

  https://www.amc.nl/web/research-75/spinx/niemann-pick-disease-type-ab.htm

  Currently the only treatment available for all phenotypes of Niemann Pick type A/B is supportive care. […] In severely affected infants with Niemann Pick type A this may consist of placement of a feeding tube and treatment of recurrent infections. […] Patients with the attenuated form Niemann Pick type B are treated with cholesterol lowering agents such as statins to reduce atherogenic lipid profiles. […] Liver transplantation has been performed in patients with end-stage liver failure. […] Unfortunately there is no specific treatment for Niemann Pick type A/B. […] Enzyme replacement therapy with recombinant ASM (olipudase alfa, Sanofi Genzyme) is under clinical evaluation for patients with Niemann Pick type B, the attenuated phenotype.

• #33 Sphingomyelinase Deficiency Treatment & Management: Medical Care, Surgical Care, Further Care

  https://emedicine.medscape.com/article/951564-treatment

  Other medical and surgical care for Niemann-Pick disease (NPD) types A and B are mainly focused on supportive care. […] Transfusion of blood products may be necessary for acute episodes of bleeding secondary to hypersplenism and thrombocytopenia in NPD type B patients. […] Pulmonary infections occur frequently in patients with Niemann-Pick disease (NPD) types A and B. […] Patients with type A disease may develop respiratory decompensation, requiring inpatient care for stabilization during severe episodes. […] Pediatric patients with NPD type B require frequent meals to promote growth. […] In patients with NPD type A, feeding becomes a major difficulty as the disease progresses. […] Patients with NPD type B disease and splenomegaly should avoid contact sports because of the risk of splenic rupture. […] Evaluation and ongoing care by a trained metabolic geneticist should occur. […] Patients with NPD type B should undergo annual pulmonary function testing and evaluation.

• #34 Niemann-Pick disease, SMPD1-related | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/niemann-pick-disease-smpd1-related/

  There are currently no effective treatments for NPD-A. Medical professionals can attempt to treat the symptoms through physical therapy, monitoring of nutrition, and medication to help sleep disorders. However, treatment cannot stop the decline caused by the disease. […] There is no treatment to address the cause of NPD-B. However, individual symptoms such as high cholesterol can be addressed. Those with clotting problems may need blood transfusions, while those with breathing problems may need supplemental oxygen. Individuals with NPD-B should be monitored to ensure they are getting the proper nutrition for growth from their diet.

• #35 Niemann-Pick disease

  https://adamcertificationdemo.adam.com/content.aspx?productid=141&isarticlelink=false&pid=1&gid=001207

  Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain. […] At this time, there is no effective treatment for the neurologic symptoms of type A. Enzyme replacement with olipudase alfa was approved by the FDA in 2022 to treat non-central nervous system symptoms. […] Bone marrow transplants may be tried for type B. Enzyme replacement with olipudase alfa is approved by the FDA to treat non-central nervous system symptoms of type B. […] A medicine called miglustat is available for the nervous system symptoms of type C. […] High cholesterol may be managed with a healthy, low-cholesterol diet or medicines. However, research does not show that these methods stop the disease from getting worse or change how cells break down cholesterol. Medicines are available to regulate or relieve many symptoms, such as sudden loss of muscle tone and seizures.

• #36 Niemann-Pick disease

  https://adamcertificationdemo.adam.com/content.aspx?productid=141&isarticlelink=false&pid=1&gid=001207

  Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain. […] At this time, there is no effective treatment for the neurologic symptoms of type A. Enzyme replacement with olipudase alfa was approved by the FDA in 2022 to treat non-central nervous system symptoms. […] Bone marrow transplants may be tried for type B. Enzyme replacement with olipudase alfa is approved by the FDA to treat non-central nervous system symptoms of type B. […] A medicine called miglustat is available for the nervous system symptoms of type C. […] High cholesterol may be managed with a healthy, low-cholesterol diet or medicines. However, research does not show that these methods stop the disease from getting worse or change how cells break down cholesterol. Medicines are available to regulate or relieve many symptoms, such as sudden loss of muscle tone and seizures.

• #37 Amsterdam UMC Locatie AMC – Niemann Pick disease type A/B

  https://www.amc.nl/web/research-75/spinx/niemann-pick-disease-type-ab.htm

  Currently the only treatment available for all phenotypes of Niemann Pick type A/B is supportive care. […] In severely affected infants with Niemann Pick type A this may consist of placement of a feeding tube and treatment of recurrent infections. […] Patients with the attenuated form Niemann Pick type B are treated with cholesterol lowering agents such as statins to reduce atherogenic lipid profiles. […] Liver transplantation has been performed in patients with end-stage liver failure. […] Unfortunately there is no specific treatment for Niemann Pick type A/B. […] Enzyme replacement therapy with recombinant ASM (olipudase alfa, Sanofi Genzyme) is under clinical evaluation for patients with Niemann Pick type B, the attenuated phenotype.

• #38 Microcytosis Leads to Niemann-Pick Disease Type C Diagnosis for Toddler

  https://www.ajmc.com/view/microcytosis-leads-to-niemann-pick-disease-type-c-diagnosis-for-toddler

  A young child with Niemann-Pick Disease type C (NPDC) was diagnosed after first presenting with neurodevelopmental delay and persistent microcytosis, according to a new case report. […] Despite specific therapy (miglustat, intrathecal cyclodextrin, acetyl-DL-leucine, thyroid replacement, and iron therapy) he continues with visceromegalies, microcytosis, and altered iron status, the authors wrote. […] In our case, isolated microcytosis (without anemia) was the main hematologic manifestation associated with an iron pattern suggesting infection/inflammation that was not clinically apparent, they wrote. […] As this (microcytosis) may be another frequent manifestation of [NPDC], being aware of it may allow for an early diagnosis and thus avoid unnecessary tests, they wrote.

• #39 Niemann-Pick Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK556129/

  The condition is best managed by an interprofessional team that includes a hepatologist or gastroenterologist, endocrinologist, neurologist, and genetic counselor. […] Also, family care, nursing support, and social support are an integral part of the management. […] Patient education is crucial, and social worker involvement, including a geneticist, is essential. […] Nurses should educate patients on the importance of treatment compliance to avoid or halt serious complications and monitor treatment progress.

• #40 Nursing Care for a Child with Niemann-Pick Type C Disease: Case Report [J Educ Res Nurs]

  https://jer-nursing.org/jvi.aspx?pdir=jern&plng=eng&un=JERN-93823&look4=

  Niemann-Pick disease is a rare, autosomal recessive lysosomal lipid storage disorder characterized by the accumulation of sphingomyelin and cholesterol in various organs in the body, especially in the reticuloendothelial system and central nervous system. […] Standard nursing interventions were performed by making a nursing diagnosis on the child of impaired respiratory function (dysfunctional ventilatory weaning response), delayed growth and development, ineffective protection (impairment in skin integrity), disturbed sleep pattern, ineffective thermoregulation, disorganized infant behaviours, impaired risk in oral mucous membranes, aspiration risk, and by diagnosing the mother with anxiety, hopelessness, and caregiver role strain.

• #41 Niemann-Pick Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK556129/

  The condition is best managed by an interprofessional team that includes a hepatologist or gastroenterologist, endocrinologist, neurologist, and genetic counselor. […] Also, family care, nursing support, and social support are an integral part of the management. […] Patient education is crucial, and social worker involvement, including a geneticist, is essential. […] Nurses should educate patients on the importance of treatment compliance to avoid or halt serious complications and monitor treatment progress.

• #42

  https://link.springer.com/article/10.1007/s44162-024-00056-9

  The aim of this case report is to show the hospital dental approach to a patient with Niemann-Pick disease (NPD) type B. […] Although rare, the presence of patients with NPD type B in the dental routine can occur, necessitating the development of an individualized and multidisciplinary treatment plan. […] Some oral problems, such as carious lesions, gingivitis, and early tooth loss, may be present in this patient profile. […] On the other hand, dental treatment for NPD patients can help them have a better quality of life by allowing for the early detection of oral diseases and the use of preventive protocols to avoid the appearance of these oral problems. […] A physical examination of the patient revealed chronic carious lesions on ten teeth, the prolonged retention of four residual roots, and poor oral hygiene.

• #43

  https://link.springer.com/article/10.1007/s44162-024-00056-9

  The aim of this case report is to show the hospital dental approach to a patient with Niemann-Pick disease (NPD) type B. […] Although rare, the presence of patients with NPD type B in the dental routine can occur, necessitating the development of an individualized and multidisciplinary treatment plan. […] Some oral problems, such as carious lesions, gingivitis, and early tooth loss, may be present in this patient profile. […] On the other hand, dental treatment for NPD patients can help them have a better quality of life by allowing for the early detection of oral diseases and the use of preventive protocols to avoid the appearance of these oral problems. […] A physical examination of the patient revealed chronic carious lesions on ten teeth, the prolonged retention of four residual roots, and poor oral hygiene.

• #44

  https://link.springer.com/article/10.1007/s44162-024-00056-9

  Dental plaque removal is known to reduce the prevalence of dental caries and periodontal disease, but for this action to be effective, these diseases must be removed completely and on a regular schedule. […] In this context, caregiver support can be critical in achieving satisfactory oral hygiene in patients with motor and/or cognitive deficits. […] There is a low level of scientific evidence in this patient profile stating that the use of the special manual Superbrush, electric brushes, patient training, caregiver training to perform oral hygiene, and regular visits to the dentist at short intervals may help reduce gingival inflammation and caries incidence. […] Given this, the use of plaque revealer toothpaste and an individualized therapeutic plan is recommended. […] Although NPD type B patients are uncommon in daily dentistry practice, they do exist, and they require the care of qualified specialists.

• #45

  https://link.springer.com/article/10.1007/s44162-024-00056-9

  Dental plaque removal is known to reduce the prevalence of dental caries and periodontal disease, but for this action to be effective, these diseases must be removed completely and on a regular schedule. […] In this context, caregiver support can be critical in achieving satisfactory oral hygiene in patients with motor and/or cognitive deficits. […] There is a low level of scientific evidence in this patient profile stating that the use of the special manual Superbrush, electric brushes, patient training, caregiver training to perform oral hygiene, and regular visits to the dentist at short intervals may help reduce gingival inflammation and caries incidence. […] Given this, the use of plaque revealer toothpaste and an individualized therapeutic plan is recommended. […] Although NPD type B patients are uncommon in daily dentistry practice, they do exist, and they require the care of qualified specialists.

• #46 Niemann-Pick disease | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/niemann-pick-disease

  No cure exists for Niemann-Pick disease, but supportive care can help manage symptoms. […] Therapies for all types of Niemann-Pick disease depend on symptoms and may include: Speech, physical and occupational therapy. Physical therapy and occupational therapy can help keep the ability to move as long as possible. Speech therapy may help with talking and swallowing. […] People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. Research for new treatments is ongoing. […] If you or your child is diagnosed with Niemann-Pick disease, your family may face challenges and uncertainties. One of the most difficult things about this condition is that it’s not possible to predict how health and development will change over time. […] You or your child will likely require more care as the condition changes. Ask your healthcare team about supportive resources. Also talk with your healthcare team about when it’s time to plan end-of life care.

• #47 Niemann-Pick disease // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/niemann-pick-disease

  No cure exists for Niemann-Pick disease, but supportive care can help manage symptoms. […] Therapies for all types of Niemann-Pick disease depend on symptoms and may include: Speech, physical and occupational therapy. Physical therapy and occupational therapy can help keep the ability to move as long as possible. Speech therapy may help with talking and swallowing. […] People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. Research for new treatments is ongoing. […] If you or your child is diagnosed with Niemann-Pick disease, your family may face challenges and uncertainties. One of the most difficult things about this condition is that it’s not possible to predict how health and development will change over time.

• #48 Niemann-Pick Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK556129/

  The condition is best managed by an interprofessional team that includes a hepatologist or gastroenterologist, endocrinologist, neurologist, and genetic counselor. […] Also, family care, nursing support, and social support are an integral part of the management. […] Patient education is crucial, and social worker involvement, including a geneticist, is essential. […] Nurses should educate patients on the importance of treatment compliance to avoid or halt serious complications and monitor treatment progress.

• #49 Newborn Screening Program – Niemann-Pick Disease

  http://www.idph.state.il.us/healthwellness/fs/niemann_pick.htm

  Individuals with Niemann-Pick disease are best treated by a team of specialists knowledgeable about the disease, who can offer supportive and symptomatic care. […] Use a multidisciplinary approach for long-term management including specialists from pediatrics, genetics, and others experienced with managing individuals with Niemann-Pick disease. […] Ensure that parents understand that treatment for Niemann-Pick disease is not curative and that morbidity cannot always be prevented. […] Recommend genetic counseling services to help the parents understand the complexity surrounding the carrier state and inheritance of this disease. […] Provide parents information on support services, such as the National Niemann-Pick Disease Foundation, early intervention service providers, and the local health department.

• #50 Niemann-Pick disease // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/niemann-pick-disease

  You or your child will likely require more care as the condition changes. Ask your healthcare team about supportive resources. Also talk with your healthcare team about when it’s time to plan end-of life care. […] Discuss medicines, including possible side effects, with your doctor or other healthcare professional.

• #51 Niemann-Pick disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/niemann-pick/diagnosis-treatment/drc-20355890

  Our caring team of Mayo Clinic experts can help you with your Niemann-Pick disease-related health concerns […] No cure exists for Niemann-Pick disease, but supportive care can help manage symptoms. […] People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. […] Discuss medicines, including possible side effects, with your doctor or other healthcare professional. […] Therapies for all types of Niemann-Pick disease depend on symptoms and may include: […] Ask your healthcare team about supportive resources. Also talk with your healthcare team about when it’s time to plan end-of life care. […] You may find it helpful to connect with others who are living with Niemann-Pick disease. […] Being part of clinical trials may help in the search for effective treatments.

• #52 Niemann-Pick disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/niemann-pick/diagnosis-treatment/drc-20355890

  Our caring team of Mayo Clinic experts can help you with your Niemann-Pick disease-related health concerns […] No cure exists for Niemann-Pick disease, but supportive care can help manage symptoms. […] People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. […] Discuss medicines, including possible side effects, with your doctor or other healthcare professional. […] Therapies for all types of Niemann-Pick disease depend on symptoms and may include: […] Ask your healthcare team about supportive resources. Also talk with your healthcare team about when it’s time to plan end-of life care. […] You may find it helpful to connect with others who are living with Niemann-Pick disease. […] Being part of clinical trials may help in the search for effective treatments.

• #53 Niemann-Pick Disease | Causes, signs, symptoms & treatment

  https://cpdonline.co.uk/knowledge-base/care/niemann-pick-disease/

  The treatment prescribed for individuals with Niemann-Pick disease will depend on the type and symptoms. […] There is very little medical professionals can do other than manage difficult symptoms with palliative care. […] The recommendations were based on positive results coming from three clinical trials. These showed the drug improved lung function and reduced the size of the liver and spleen. […] Living with or supporting someone with Niemann-Pick disease can be lonely. […] This charitable organisation is dedicated to making a positive difference to those affected by raising awareness, providing emotional and practical support through their helpline and facilitating research. […] The NHS also has a support group called the Niemann-Pick Disease Group (UK), which is based in Washington, Tyne and Wear, but there is a 24-hour helpline too.

• #54 Niemann-Pick disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/niemann-pick/diagnosis-treatment/drc-20355890

  Our caring team of Mayo Clinic experts can help you with your Niemann-Pick disease-related health concerns […] No cure exists for Niemann-Pick disease, but supportive care can help manage symptoms. […] People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. […] Discuss medicines, including possible side effects, with your doctor or other healthcare professional. […] Therapies for all types of Niemann-Pick disease depend on symptoms and may include: […] Ask your healthcare team about supportive resources. Also talk with your healthcare team about when it’s time to plan end-of life care. […] You may find it helpful to connect with others who are living with Niemann-Pick disease. […] Being part of clinical trials may help in the search for effective treatments.

• #55 Niemann-Pick disease | Altru Health System

  https://www.altru.org/health-library/conditions/niemann-pick-disease

  No cure exists for Niemann-Pick disease, but supportive care can help manage symptoms. […] Therapies for all types of Niemann-Pick disease depend on symptoms and may include: […] People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. […] If you or your child is diagnosed with Niemann-Pick disease, your family may face challenges and uncertainties. […] You or your child will likely require more care as the condition changes. […] Ask your healthcare team about supportive resources. […] Being part of clinical trials may help in the search for effective treatments.

• #56 International Niemann-Pick Disease Registry – International Niemann-Pick Disease Alliance (INPDA)

  https://www.inpda.org/inpdr/

  The purpose of the INPDR is to develop and sustain an unique patient-led database that supports research and therapy development and improves care and treatment for Niemann-Pick disease (ASMD or NPC) patients through global collaboration. […] The data held in the registry contributes to: Supporting the development of standards of diagnosis, clinical management, and quality of care. […] By participating in the INPDR, and sharing both clinical data and patient perspectives, you will be having a direct impact on the progress in research and future care and support available to Niemann-Pick disease(s) patients. […] It is only through the continued support of patient communities that we will see progress in care, treatment, and research. […] Your quality of care will not be affected if you sign up for the INPDR. Taking part either through your clinical or by directly sharing Patient Reported Data is voluntary and you can withdraw your consent at any time without proving any reasons. […] Patient records are increasing but the INPDR needs more people to sign up in order to harness the power of patient data to improve access to care and treatment and to facilitate research that would improve the patient experience.

• #57 International Niemann-Pick Disease Registry – International Niemann-Pick Disease Alliance (INPDA)

  https://www.inpda.org/inpdr/

  The purpose of the INPDR is to develop and sustain an unique patient-led database that supports research and therapy development and improves care and treatment for Niemann-Pick disease (ASMD or NPC) patients through global collaboration. […] The data held in the registry contributes to: Supporting the development of standards of diagnosis, clinical management, and quality of care. […] By participating in the INPDR, and sharing both clinical data and patient perspectives, you will be having a direct impact on the progress in research and future care and support available to Niemann-Pick disease(s) patients. […] It is only through the continued support of patient communities that we will see progress in care, treatment, and research. […] Your quality of care will not be affected if you sign up for the INPDR. Taking part either through your clinical or by directly sharing Patient Reported Data is voluntary and you can withdraw your consent at any time without proving any reasons. […] Patient records are increasing but the INPDR needs more people to sign up in order to harness the power of patient data to improve access to care and treatment and to facilitate research that would improve the patient experience.

• #58 International Niemann-Pick Disease Registry – International Niemann-Pick Disease Alliance (INPDA)

  https://www.inpda.org/inpdr/

  The purpose of the INPDR is to develop and sustain an unique patient-led database that supports research and therapy development and improves care and treatment for Niemann-Pick disease (ASMD or NPC) patients through global collaboration. […] The data held in the registry contributes to: Supporting the development of standards of diagnosis, clinical management, and quality of care. […] By participating in the INPDR, and sharing both clinical data and patient perspectives, you will be having a direct impact on the progress in research and future care and support available to Niemann-Pick disease(s) patients. […] It is only through the continued support of patient communities that we will see progress in care, treatment, and research. […] Your quality of care will not be affected if you sign up for the INPDR. Taking part either through your clinical or by directly sharing Patient Reported Data is voluntary and you can withdraw your consent at any time without proving any reasons. […] Patient records are increasing but the INPDR needs more people to sign up in order to harness the power of patient data to improve access to care and treatment and to facilitate research that would improve the patient experience.

• #59 Niemann-Pick Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK556129/

  The condition is best managed by an interprofessional team that includes a hepatologist or gastroenterologist, endocrinologist, neurologist, and genetic counselor. […] Also, family care, nursing support, and social support are an integral part of the management. […] Patient education is crucial, and social worker involvement, including a geneticist, is essential. […] Nurses should educate patients on the importance of treatment compliance to avoid or halt serious complications and monitor treatment progress.

• #60 Niemann-Pick disease

  https://adamcertificationdemo.adam.com/content.aspx?productid=141&isarticlelink=false&pid=1&gid=001207

  Make an appointment with your health care provider if you have a family history of Niemann-Pick disease and you plan to have children. Genetic counseling and screening is recommended. […] Contact your provider if your child has symptoms of this disease, including: Developmental problems, Feeding problems, Poor weight gain.

• #61 About Us – International Niemann-Pick Disease Alliance (INPDA)

  https://www.inpda.org/about-us/

  The INPDAs overall mission is to aid families affected by Niemann-Pick diseases worldwide through a network of families, patient groups and healthcare professionals. Our network provides a collaborative forum for the sharing of information and experience regarding all aspects of Niemann-Pick disease, including care and support, the provision and distribution of information, and the furtherance of research. […] We aim to share expertise, knowledge and skills across our network, providing mutual support between patient groups, improving information and awareness of NPD, and stimulating research. […] In joining the INPDA, your organisation will become part of a network of groups dedicated to improving the lives of people with Niemann Pick diseases, their families and carers worldwide. Together, we demonstrate to the world that although rare, we have a strong global voice and will progress together.

• #62 About Us – International Niemann-Pick Disease Alliance (INPDA)

  https://www.inpda.org/about-us/

  The INPDAs overall mission is to aid families affected by Niemann-Pick diseases worldwide through a network of families, patient groups and healthcare professionals. Our network provides a collaborative forum for the sharing of information and experience regarding all aspects of Niemann-Pick disease, including care and support, the provision and distribution of information, and the furtherance of research. […] We aim to share expertise, knowledge and skills across our network, providing mutual support between patient groups, improving information and awareness of NPD, and stimulating research. […] In joining the INPDA, your organisation will become part of a network of groups dedicated to improving the lives of people with Niemann Pick diseases, their families and carers worldwide. Together, we demonstrate to the world that although rare, we have a strong global voice and will progress together.

• #63

  https://step2.medbullets.com/pediatrics/120118/niemann-pick-disease

  supportive care […] In patients with NPD type A, death is likely to occur by age 3 […] In patients with NPD type B, patients may survive into adulthood.

• #64 Niemann-Pick disease, SMPD1-related | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/niemann-pick-disease-smpd1-related/

  There are currently no effective treatments for NPD-A. Medical professionals can attempt to treat the symptoms through physical therapy, monitoring of nutrition, and medication to help sleep disorders. However, treatment cannot stop the decline caused by the disease. […] There is no treatment to address the cause of NPD-B. However, individual symptoms such as high cholesterol can be addressed. Those with clotting problems may need blood transfusions, while those with breathing problems may need supplemental oxygen. Individuals with NPD-B should be monitored to ensure they are getting the proper nutrition for growth from their diet.

• #65 Amsterdam UMC Locatie AMC – Niemann Pick disease type A/B

  https://www.amc.nl/web/research-75/spinx/niemann-pick-disease-type-ab.htm

  Currently the only treatment available for all phenotypes of Niemann Pick type A/B is supportive care. […] In severely affected infants with Niemann Pick type A this may consist of placement of a feeding tube and treatment of recurrent infections. […] Patients with the attenuated form Niemann Pick type B are treated with cholesterol lowering agents such as statins to reduce atherogenic lipid profiles. […] Liver transplantation has been performed in patients with end-stage liver failure. […] Unfortunately there is no specific treatment for Niemann Pick type A/B. […] Enzyme replacement therapy with recombinant ASM (olipudase alfa, Sanofi Genzyme) is under clinical evaluation for patients with Niemann Pick type B, the attenuated phenotype.

• #66 Niemann-Pick disease

  https://adamcertificationdemo.adam.com/content.aspx?productid=141&isarticlelink=false&pid=1&gid=001207

  Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain. […] At this time, there is no effective treatment for the neurologic symptoms of type A. Enzyme replacement with olipudase alfa was approved by the FDA in 2022 to treat non-central nervous system symptoms. […] Bone marrow transplants may be tried for type B. Enzyme replacement with olipudase alfa is approved by the FDA to treat non-central nervous system symptoms of type B. […] A medicine called miglustat is available for the nervous system symptoms of type C. […] High cholesterol may be managed with a healthy, low-cholesterol diet or medicines. However, research does not show that these methods stop the disease from getting worse or change how cells break down cholesterol. Medicines are available to regulate or relieve many symptoms, such as sudden loss of muscle tone and seizures.

• #67 Niemann-Pick disease | Newborn Screening

  https://newbornscreening.hrsa.gov/conditions/niemann-pick-disease

  Niemann-Pick disease is a term used to describe a family of inherited (genetic) conditions that prevent the body from processing fatty substances normally. […] It is important to talk to your health care provider about which treatment(s) are best for your baby. Treatment manages the health problems caused by this condition by reducing symptoms. […] Children who receive early and ongoing treatment for ASMD may live longer and have better growth. There is not yet effective treatment for brain issues by ASMD in the infantile neurovisceral and chronic neurovisceral forms of the disease. It is important to talk to your health care provider about how to best care for your baby. Health care providers will develop a plan that is tailored to the needs of each child.

• #68

  https://step2.medbullets.com/pediatrics/120118/niemann-pick-disease

  supportive care […] In patients with NPD type A, death is likely to occur by age 3 […] In patients with NPD type B, patients may survive into adulthood.

• #69 Niemann-Pick disease, SMPD1-related | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/niemann-pick-disease-smpd1-related/

  There are currently no effective treatments for NPD-A. Medical professionals can attempt to treat the symptoms through physical therapy, monitoring of nutrition, and medication to help sleep disorders. However, treatment cannot stop the decline caused by the disease. […] There is no treatment to address the cause of NPD-B. However, individual symptoms such as high cholesterol can be addressed. Those with clotting problems may need blood transfusions, while those with breathing problems may need supplemental oxygen. Individuals with NPD-B should be monitored to ensure they are getting the proper nutrition for growth from their diet.

• #70 Sphingomyelinase Deficiency Treatment & Management: Medical Care, Surgical Care, Further Care

  https://emedicine.medscape.com/article/951564-treatment

  Other medical and surgical care for Niemann-Pick disease (NPD) types A and B are mainly focused on supportive care. […] Transfusion of blood products may be necessary for acute episodes of bleeding secondary to hypersplenism and thrombocytopenia in NPD type B patients. […] Pulmonary infections occur frequently in patients with Niemann-Pick disease (NPD) types A and B. […] Patients with type A disease may develop respiratory decompensation, requiring inpatient care for stabilization during severe episodes. […] Pediatric patients with NPD type B require frequent meals to promote growth. […] In patients with NPD type A, feeding becomes a major difficulty as the disease progresses. […] Patients with NPD type B disease and splenomegaly should avoid contact sports because of the risk of splenic rupture. […] Evaluation and ongoing care by a trained metabolic geneticist should occur. […] Patients with NPD type B should undergo annual pulmonary function testing and evaluation.

• #71 Amsterdam UMC Locatie AMC – Niemann Pick disease type A/B

  https://www.amc.nl/web/research-75/spinx/niemann-pick-disease-type-ab.htm

  Currently the only treatment available for all phenotypes of Niemann Pick type A/B is supportive care. […] In severely affected infants with Niemann Pick type A this may consist of placement of a feeding tube and treatment of recurrent infections. […] Patients with the attenuated form Niemann Pick type B are treated with cholesterol lowering agents such as statins to reduce atherogenic lipid profiles. […] Liver transplantation has been performed in patients with end-stage liver failure. […] Unfortunately there is no specific treatment for Niemann Pick type A/B. […] Enzyme replacement therapy with recombinant ASM (olipudase alfa, Sanofi Genzyme) is under clinical evaluation for patients with Niemann Pick type B, the attenuated phenotype.

• #72 Niemann-Pick disease

  https://adamcertificationdemo.adam.com/content.aspx?productid=141&isarticlelink=false&pid=1&gid=001207

  Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain. […] At this time, there is no effective treatment for the neurologic symptoms of type A. Enzyme replacement with olipudase alfa was approved by the FDA in 2022 to treat non-central nervous system symptoms. […] Bone marrow transplants may be tried for type B. Enzyme replacement with olipudase alfa is approved by the FDA to treat non-central nervous system symptoms of type B. […] A medicine called miglustat is available for the nervous system symptoms of type C. […] High cholesterol may be managed with a healthy, low-cholesterol diet or medicines. However, research does not show that these methods stop the disease from getting worse or change how cells break down cholesterol. Medicines are available to regulate or relieve many symptoms, such as sudden loss of muscle tone and seizures.

• #73 Niemann-Pick Disease Type C Signs & Symptoms | Rush | Rush System

  https://www.rush.edu/kids/conditions/niemann-pick-disease-type-c

  Niemann-Pick disease type C is caused by a rare genetic mutation that prevents the body from properly processing cholesterol. […] Niemann-Pick disease type C is a serious neurologic condition that causes progressive mental and physical decline in children. […] Children with Niemann-Pick disease type C struggle with movement and gradually lose the ability to speak and eventually the ability to think. […] There is currently no cure for Niemann-Pick disease type C, and there is no FDA-approved treatment to halt the diseases progression. Instead, treatment typically revolves around alleviating symptoms with medications and complementary therapies that address the following: Seizures, Sleep disturbances, Mobility issues, Communication challenges, Feeding problems.

• #74 Niemann-Pick Disease Type C Signs & Symptoms | Rush | Rush System

  https://www.rush.edu/kids/conditions/niemann-pick-disease-type-c

  Niemann-Pick disease type C is caused by a rare genetic mutation that prevents the body from properly processing cholesterol. […] Niemann-Pick disease type C is a serious neurologic condition that causes progressive mental and physical decline in children. […] Children with Niemann-Pick disease type C struggle with movement and gradually lose the ability to speak and eventually the ability to think. […] There is currently no cure for Niemann-Pick disease type C, and there is no FDA-approved treatment to halt the diseases progression. Instead, treatment typically revolves around alleviating symptoms with medications and complementary therapies that address the following: Seizures, Sleep disturbances, Mobility issues, Communication challenges, Feeding problems.

• #75 Niemann-Pick Disease Type C Signs & Symptoms | Rush | Rush System

  https://www.rush.edu/kids/conditions/niemann-pick-disease-type-c

  Niemann-Pick disease type C is caused by a rare genetic mutation that prevents the body from properly processing cholesterol. […] Niemann-Pick disease type C is a serious neurologic condition that causes progressive mental and physical decline in children. […] Children with Niemann-Pick disease type C struggle with movement and gradually lose the ability to speak and eventually the ability to think. […] There is currently no cure for Niemann-Pick disease type C, and there is no FDA-approved treatment to halt the diseases progression. Instead, treatment typically revolves around alleviating symptoms with medications and complementary therapies that address the following: Seizures, Sleep disturbances, Mobility issues, Communication challenges, Feeding problems.

• #76 Niemann-Pick disease

  https://adamcertificationdemo.adam.com/content.aspx?productid=141&isarticlelink=false&pid=1&gid=001207

  Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain. […] At this time, there is no effective treatment for the neurologic symptoms of type A. Enzyme replacement with olipudase alfa was approved by the FDA in 2022 to treat non-central nervous system symptoms. […] Bone marrow transplants may be tried for type B. Enzyme replacement with olipudase alfa is approved by the FDA to treat non-central nervous system symptoms of type B. […] A medicine called miglustat is available for the nervous system symptoms of type C. […] High cholesterol may be managed with a healthy, low-cholesterol diet or medicines. However, research does not show that these methods stop the disease from getting worse or change how cells break down cholesterol. Medicines are available to regulate or relieve many symptoms, such as sudden loss of muscle tone and seizures.

• #77 FDA Approves Stand-Alone Therapy Levacetylleucine for Niemann-Pick Disease Type C

  https://www.neurologylive.com/view/fda-approves-stand-alone-thearpy-levacetylleucine-niemann-pick-disease-type-c

  Levacetylleucine met primary and secondary end points in a phase 3 trial, showing significant improvements in ataxia and neurological symptoms. […] The FDA’s approval of levacetylleucine provides a new therapeutic option for patients with Niemann-Pick disease type C, addressing a long-standing unmet need. […] The safety profile of levacetylleucine was favorable, with no serious adverse events reported during the clinical trial. […] „For too long, our community has been without an approved therapy for the treatment of NPC. Today we celebrate this tremendous milestone for individuals and families living with NPC.” […] We are ready to help families embark on this new chapter of treatment.

• #78 Niemann-Pick Disease Type C | Children’s Hospital Pittsburgh

  https://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/niemann-pick-disease-type-c

  Children with NPC may have trouble moving their eyes up and down. […] By the end of your visit, you’ll have a NPC care plan tailored to your child’s needs. […] You’ll meet our nurse practitioner. You can contact them by phone or video conference with any concerns before your next visit. […] At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.

• #79 Niemann-Pick Disease Type C (NPC) – Rare Awareness Rare Education

  https://rareportal.org.au/rare-disease/niemann-pick-disease-type-c-npc/

  Clinical Care Guidelines for Niemann-Pick disease type C, published in 2018, have been developed by the International Niemann-Pick Disease Registry (INPDR) consortium consisting of expert physicians, geneticists, allied healthcare professionals and patient support groups from 13 countries, including Australia. […] Treatment of Niemann-Pick disease type C (NPC) mainly involves strategies to manage the symptoms, which may involve a multidisciplinary medical team. This will depend on the individuals specific symptoms. Management strategies may consist of physical, occupational and speech therapy, as well as monitoring of growth, hearing, feeding and swallowing, bowel and bladder function, and mental wellbeing. […] Healthcare professionals involved in the treatment of Niemann-Pick disease type C (NPC) may include general practitioners (GP), paediatricians, geneticists, neurologists, ophthalmologists, pulmonologists, psychiatrists, physical therapists, occupational therapists, and speech therapists. The need for different healthcare professionals may change over a persons lifetime and extend beyond those listed here.

• #80 What Is Niemann-Pick Disease?

  https://www.verywellhealth.com/niemann-pick-disease-4158754

  Niemann-Pick disease causes a number of symptoms that interfere with having a normal life, and cause a great deal of discomfort, pain, and disability. […] If you or your child has been diagnosed with Niemann-Pick disease, the lifelong affliction means that your family must find a strong support network, and a wide variety of professionals to provide multidisciplinary care. Because it is a rare disease, you may need to search to locate professionals who are experienced in providing the services that you need.

• #81 Niemann-Pick Disease | Causes, signs, symptoms & treatment

  https://cpdonline.co.uk/knowledge-base/care/niemann-pick-disease/

  Patients and their caregivers will face challenges navigating everyday life. […] There are also difficulties associated with having a rare disease in that there is very little support available, and the condition is not well understood or well-known. […] Niemann-Picks has a variable impact on those affected, but it is almost always profound. Combined motor function impairment, cognitive difficulties and psychosocial problems make it difficult to be independent. […] Life is also difficult for their caregivers, who are almost always parents. This is due to the progressive disease symptoms as well as the fact there are few treatment options available. […] There are parallels for parents of children with other rare diseases in terms of the impact on the caregiver. This is due to the huge range of symptoms (physical and emotional) and the demands the disease places on loved ones.

• #82 Niemann-Pick Disease | Causes, signs, symptoms & treatment

  https://cpdonline.co.uk/knowledge-base/care/niemann-pick-disease/

  Patients and their caregivers will face challenges navigating everyday life. […] There are also difficulties associated with having a rare disease in that there is very little support available, and the condition is not well understood or well-known. […] Niemann-Picks has a variable impact on those affected, but it is almost always profound. Combined motor function impairment, cognitive difficulties and psychosocial problems make it difficult to be independent. […] Life is also difficult for their caregivers, who are almost always parents. This is due to the progressive disease symptoms as well as the fact there are few treatment options available. […] There are parallels for parents of children with other rare diseases in terms of the impact on the caregiver. This is due to the huge range of symptoms (physical and emotional) and the demands the disease places on loved ones.

• #83 Niemann-Pick Disease | Causes, signs, symptoms & treatment

  https://cpdonline.co.uk/knowledge-base/care/niemann-pick-disease/

  The treatment prescribed for individuals with Niemann-Pick disease will depend on the type and symptoms. […] There is very little medical professionals can do other than manage difficult symptoms with palliative care. […] The recommendations were based on positive results coming from three clinical trials. These showed the drug improved lung function and reduced the size of the liver and spleen. […] Living with or supporting someone with Niemann-Pick disease can be lonely. […] This charitable organisation is dedicated to making a positive difference to those affected by raising awareness, providing emotional and practical support through their helpline and facilitating research. […] The NHS also has a support group called the Niemann-Pick Disease Group (UK), which is based in Washington, Tyne and Wear, but there is a 24-hour helpline too.

• #84 Niemann-Pick Disease | Causes, signs, symptoms & treatment

  https://cpdonline.co.uk/knowledge-base/care/niemann-pick-disease/

  The treatment prescribed for individuals with Niemann-Pick disease will depend on the type and symptoms. […] There is very little medical professionals can do other than manage difficult symptoms with palliative care. […] The recommendations were based on positive results coming from three clinical trials. These showed the drug improved lung function and reduced the size of the liver and spleen. […] Living with or supporting someone with Niemann-Pick disease can be lonely. […] This charitable organisation is dedicated to making a positive difference to those affected by raising awareness, providing emotional and practical support through their helpline and facilitating research. […] The NHS also has a support group called the Niemann-Pick Disease Group (UK), which is based in Washington, Tyne and Wear, but there is a 24-hour helpline too.

• #85 Niemann-Pick Disease | Causes, signs, symptoms & treatment

  https://cpdonline.co.uk/knowledge-base/care/niemann-pick-disease/

  The treatment prescribed for individuals with Niemann-Pick disease will depend on the type and symptoms. […] There is very little medical professionals can do other than manage difficult symptoms with palliative care. […] The recommendations were based on positive results coming from three clinical trials. These showed the drug improved lung function and reduced the size of the liver and spleen. […] Living with or supporting someone with Niemann-Pick disease can be lonely. […] This charitable organisation is dedicated to making a positive difference to those affected by raising awareness, providing emotional and practical support through their helpline and facilitating research. […] The NHS also has a support group called the Niemann-Pick Disease Group (UK), which is based in Washington, Tyne and Wear, but there is a 24-hour helpline too.

• #86 Niemann-Pick disease | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/niemann-pick-disease

  No cure exists for Niemann-Pick disease, but supportive care can help manage symptoms. […] Therapies for all types of Niemann-Pick disease depend on symptoms and may include: Speech, physical and occupational therapy. Physical therapy and occupational therapy can help keep the ability to move as long as possible. Speech therapy may help with talking and swallowing. […] People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. Research for new treatments is ongoing. […] If you or your child is diagnosed with Niemann-Pick disease, your family may face challenges and uncertainties. One of the most difficult things about this condition is that it’s not possible to predict how health and development will change over time. […] You or your child will likely require more care as the condition changes. Ask your healthcare team about supportive resources. Also talk with your healthcare team about when it’s time to plan end-of life care.

• #87 Niemann-Pick disease // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/niemann-pick-disease

  No cure exists for Niemann-Pick disease, but supportive care can help manage symptoms. […] Therapies for all types of Niemann-Pick disease depend on symptoms and may include: Speech, physical and occupational therapy. Physical therapy and occupational therapy can help keep the ability to move as long as possible. Speech therapy may help with talking and swallowing. […] People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. Research for new treatments is ongoing. […] If you or your child is diagnosed with Niemann-Pick disease, your family may face challenges and uncertainties. One of the most difficult things about this condition is that it’s not possible to predict how health and development will change over time.

• #88 Niemann-Pick Disease – Focused Ultrasound Foundation

  https://www.fusfoundation.org/diseases-and-conditions/niemann-pick-disease/

  Focused ultrasound is a noninvasive, therapeutic technology with the potential to improve the quality of life and decrease the cost of care for patients with Niemann-Pick Disease. […] The primary options for treatment of Niemann-Pick Disease are primarily supportive therapies as there is no cure. […] For certain patients, focused ultrasound could provide a therapeutic option for these patients. […] Focused ultrasound is noninvasive, so it does not carry added concerns like surgical wound healing or infection. […] Focused ultrasound treatment for Niemann-Pick disease is not yet approved by regulatory bodies or covered by medical insurance companies.

• #89 Amsterdam UMC Locatie AMC – Niemann Pick disease type A/B

  https://www.amc.nl/web/research-75/spinx/niemann-pick-disease-type-ab.htm

  Currently the only treatment available for all phenotypes of Niemann Pick type A/B is supportive care. […] In severely affected infants with Niemann Pick type A this may consist of placement of a feeding tube and treatment of recurrent infections. […] Patients with the attenuated form Niemann Pick type B are treated with cholesterol lowering agents such as statins to reduce atherogenic lipid profiles. […] Liver transplantation has been performed in patients with end-stage liver failure. […] Unfortunately there is no specific treatment for Niemann Pick type A/B. […] Enzyme replacement therapy with recombinant ASM (olipudase alfa, Sanofi Genzyme) is under clinical evaluation for patients with Niemann Pick type B, the attenuated phenotype.

• #90 Microcytosis Leads to Niemann-Pick Disease Type C Diagnosis for Toddler

  https://www.ajmc.com/view/microcytosis-leads-to-niemann-pick-disease-type-c-diagnosis-for-toddler

  A young child with Niemann-Pick Disease type C (NPDC) was diagnosed after first presenting with neurodevelopmental delay and persistent microcytosis, according to a new case report. […] Despite specific therapy (miglustat, intrathecal cyclodextrin, acetyl-DL-leucine, thyroid replacement, and iron therapy) he continues with visceromegalies, microcytosis, and altered iron status, the authors wrote. […] In our case, isolated microcytosis (without anemia) was the main hematologic manifestation associated with an iron pattern suggesting infection/inflammation that was not clinically apparent, they wrote. […] As this (microcytosis) may be another frequent manifestation of [NPDC], being aware of it may allow for an early diagnosis and thus avoid unnecessary tests, they wrote.

• #91 Niemann-Pick Disease – Focused Ultrasound Foundation

  https://www.fusfoundation.org/diseases-and-conditions/niemann-pick-disease/

  Focused ultrasound is a noninvasive, therapeutic technology with the potential to improve the quality of life and decrease the cost of care for patients with Niemann-Pick Disease. […] The primary options for treatment of Niemann-Pick Disease are primarily supportive therapies as there is no cure. […] For certain patients, focused ultrasound could provide a therapeutic option for these patients. […] Focused ultrasound is noninvasive, so it does not carry added concerns like surgical wound healing or infection. […] Focused ultrasound treatment for Niemann-Pick disease is not yet approved by regulatory bodies or covered by medical insurance companies.

• #92 Niemann-Pick Disease – Focused Ultrasound Foundation

  https://www.fusfoundation.org/diseases-and-conditions/niemann-pick-disease/

  Focused ultrasound is a noninvasive, therapeutic technology with the potential to improve the quality of life and decrease the cost of care for patients with Niemann-Pick Disease. […] The primary options for treatment of Niemann-Pick Disease are primarily supportive therapies as there is no cure. […] For certain patients, focused ultrasound could provide a therapeutic option for these patients. […] Focused ultrasound is noninvasive, so it does not carry added concerns like surgical wound healing or infection. […] Focused ultrasound treatment for Niemann-Pick disease is not yet approved by regulatory bodies or covered by medical insurance companies.

• #93 Niemann-Pick Disease – Focused Ultrasound Foundation

  https://www.fusfoundation.org/diseases-and-conditions/niemann-pick-disease/

  Focused ultrasound is a noninvasive, therapeutic technology with the potential to improve the quality of life and decrease the cost of care for patients with Niemann-Pick Disease. […] The primary options for treatment of Niemann-Pick Disease are primarily supportive therapies as there is no cure. […] For certain patients, focused ultrasound could provide a therapeutic option for these patients. […] Focused ultrasound is noninvasive, so it does not carry added concerns like surgical wound healing or infection. […] Focused ultrasound treatment for Niemann-Pick disease is not yet approved by regulatory bodies or covered by medical insurance companies.

• #94 Newborn Screening Program – Niemann-Pick Disease

  http://www.idph.state.il.us/healthwellness/fs/niemann_pick.htm

  Individuals with Niemann-Pick disease are best treated by a team of specialists knowledgeable about the disease, who can offer supportive and symptomatic care. […] Use a multidisciplinary approach for long-term management including specialists from pediatrics, genetics, and others experienced with managing individuals with Niemann-Pick disease. […] Ensure that parents understand that treatment for Niemann-Pick disease is not curative and that morbidity cannot always be prevented. […] Recommend genetic counseling services to help the parents understand the complexity surrounding the carrier state and inheritance of this disease. […] Provide parents information on support services, such as the National Niemann-Pick Disease Foundation, early intervention service providers, and the local health department.

• #95 Niemann-Pick Disease Type C (NPC) – Rare Awareness Rare Education

  https://rareportal.org.au/rare-disease/niemann-pick-disease-type-c-npc/

  Clinical Care Guidelines for Niemann-Pick disease type C, published in 2018, have been developed by the International Niemann-Pick Disease Registry (INPDR) consortium consisting of expert physicians, geneticists, allied healthcare professionals and patient support groups from 13 countries, including Australia. […] Treatment of Niemann-Pick disease type C (NPC) mainly involves strategies to manage the symptoms, which may involve a multidisciplinary medical team. This will depend on the individuals specific symptoms. Management strategies may consist of physical, occupational and speech therapy, as well as monitoring of growth, hearing, feeding and swallowing, bowel and bladder function, and mental wellbeing. […] Healthcare professionals involved in the treatment of Niemann-Pick disease type C (NPC) may include general practitioners (GP), paediatricians, geneticists, neurologists, ophthalmologists, pulmonologists, psychiatrists, physical therapists, occupational therapists, and speech therapists. The need for different healthcare professionals may change over a persons lifetime and extend beyond those listed here.

• #96 Niemann-Pick disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/niemann-pick/diagnosis-treatment/drc-20355890

  Our caring team of Mayo Clinic experts can help you with your Niemann-Pick disease-related health concerns […] No cure exists for Niemann-Pick disease, but supportive care can help manage symptoms. […] People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. […] Discuss medicines, including possible side effects, with your doctor or other healthcare professional. […] Therapies for all types of Niemann-Pick disease depend on symptoms and may include: […] Ask your healthcare team about supportive resources. Also talk with your healthcare team about when it’s time to plan end-of life care. […] You may find it helpful to connect with others who are living with Niemann-Pick disease. […] Being part of clinical trials may help in the search for effective treatments.

• #97 Niemann-Pick disease – Care at Mayo Clinic – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/niemann-pick/care-at-mayo-clinic/mac-20355892

  Mayo Clinic experts in Niemann-Pick disease work together to provide exactly the care you need. […] Pediatric experts at the Mayo Clinic Children’s Center focus on one child and family at a time. Working as a team, medical professionals from multiple specialties discuss care and then talk with you to set goals. Together you develop a customized evaluation and treatment plan for your child with Niemann-Pick disease. […] Mayo Clinic doctors have years of experience in caring for people who have Niemann-Pick disease. Mayo Clinic specialists are experts in this complicated disease and are experienced at being able to distinguish Niemann-Pick disease from other diseases with similar symptoms. […] Highly skilled pediatric experts diagnose and treat all types of conditions in children. As a team, we work together to find answers, set goals and develop a treatment plan tailored to your child’s needs.

• #98 Newborn Screening Program – Niemann-Pick Disease

  http://www.idph.state.il.us/healthwellness/fs/niemann_pick.htm

  Individuals with Niemann-Pick disease are best treated by a team of specialists knowledgeable about the disease, who can offer supportive and symptomatic care. […] Use a multidisciplinary approach for long-term management including specialists from pediatrics, genetics, and others experienced with managing individuals with Niemann-Pick disease. […] Ensure that parents understand that treatment for Niemann-Pick disease is not curative and that morbidity cannot always be prevented. […] Recommend genetic counseling services to help the parents understand the complexity surrounding the carrier state and inheritance of this disease. […] Provide parents information on support services, such as the National Niemann-Pick Disease Foundation, early intervention service providers, and the local health department.

• #99 Niemann-Pick disease | Newborn Screening

  https://newbornscreening.hrsa.gov/conditions/niemann-pick-disease

  Niemann-Pick disease is a term used to describe a family of inherited (genetic) conditions that prevent the body from processing fatty substances normally. […] It is important to talk to your health care provider about which treatment(s) are best for your baby. Treatment manages the health problems caused by this condition by reducing symptoms. […] Children who receive early and ongoing treatment for ASMD may live longer and have better growth. There is not yet effective treatment for brain issues by ASMD in the infantile neurovisceral and chronic neurovisceral forms of the disease. It is important to talk to your health care provider about how to best care for your baby. Health care providers will develop a plan that is tailored to the needs of each child.

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