Materiały źródłowe

• #1 Treatment of Hemophilia | Hemophilia | CDC

  https://www.cdc.gov/hemophilia/treatment/index.html

  If you have hemophilia, you need treatment so your blood can clot. […] Treatment products have different ways of helping blood clot. […] Hemophilia treatment centers specialize in caring for people with bleeding disorders. […] The standard way to treat both hemophilia A and B is to replace the missing blood clotting factor so that the blood can clot properly. […] One way to do this is by infusing (injecting into a vein) commercially prepared clotting factor concentrates. […] Healthcare providers typically prescribe treatment products for episodic care or prophylactic care. […] Episodic care is used to stop a patients bleeding episodes; prophylactic care is used to prevent bleeding episodes from occurring. […] People with hemophilia can learn how to perform infusions themselves so that they can stop bleeding episodes and, by performing the infusions on a regular basis, can even prevent most bleeding episodes.

• #2 What Is Hemophilia?

  https://my.clevelandclinic.org/health/diseases/14083-hemophilia

  Hemophilia happens when you don’t have the normal amount of clotting factors. Healthcare providers treat hemophilia by replacing missing clotting factors. […] Healthcare providers treat this condition by replacing the missing clotting factors. There isn’t a cure for hemophilia, but people who receive treatment generally live about as long as people who don’t have hemophilia. Providers are researching gene therapy and gene replacement therapy as new ways to treat and possibly cure hemophilia. […] Healthcare providers treat hemophilia by boosting clotting factor levels or replacing missing clotting factors (replacement therapy). In replacement therapy, you receive human plasma concentrates or lab-made (recombinant) clotting factors. In general, only people with severe hemophilia need regular replacement therapy. People with mild or moderate hemophilia who need surgery may receive replacement therapy.

• #3 How Is Hemophilia Treated? | Hematology-Oncology Associates of CNY

  https://www.hoacny.com/patient-resources/blood-disorders/what-hemophilia/how-hemophilia-treated

  The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein. These infusions help replace the clotting factor that’s missing or low. […] You may have replacement therapy on a regular basis to prevent bleeding. This is called preventive or prophylactic (PRO-fih-lac-tik) therapy. Or, you may only need replacement therapy to stop bleeding when it occurs. This use of the treatment, on an as-needed basis, is called demand therapy. […] Demand therapy is less intensive and expensive than preventive therapy. However, there’s a risk that bleeding will cause damage before you receive the demand therapy. […] Antibodies can destroy the clotting factor before it has a chance to work. This is a very serious problem. It prevents the main treatment for hemophilia (replacement therapy) from working.

• #4 Treatment of hemophilia | Hemophilia

  https://www.hemophilia.ca/treatment-of-hemophilia/

  The clotting factors available in Canada today have many advantages over products available in the 1950s, 1960s, 1970s and 1980s. They are very concentrated and very effective. A small amount contains enough factor VIII or IX activity to control bleeding, even in major surgery. They are convenient. The concentrates can be stored in a home refrigerator for up to a year or at room temperature for 3 to 12 months depending on the product. They are easy to mix. A small amount of sterile water, about 5 to 10 millilitres, is mixed with the powdered concentrate. A few seconds to one minute later the preparation is ready to be infused. They are quick to infuse. From beginning to end, the infusion takes no more than 15 to 20 minutes. They are very safe. None of the factor VIII or IX concentrates used in Canada since 1988, whether plasma-derived or recombinant, have transmitted HIV or hepatitis. Factor concentrates with extended half-lives generally last longer so treatment is needed less often. This improves quality of life for people with hemophilia and parents/caregivers of children with hemophilia.

• #5 Hemophilia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hemophilia/diagnosis-treatment/drc-20373333

  The main treatment for severe hemophilia involves replacing the clotting factor you need through a tube in a vein. […] This replacement therapy can be given to treat a bleeding episode in progress. It can also be given on a regular schedule at home to help prevent bleeding episodes. Some people receive continuous replacement therapy. […] Replacement clotting factor can be made from donated blood. Similar products, called recombinant clotting factors, are made in a laboratory, not from human blood. […] Other therapies include: Desmopressin. In some forms of mild hemophilia, this hormone can stimulate the body to release more clotting factor. It can be injected slowly into a vein or used as a nasal spray. […] Emicizumab (Hemlibra). This is a newer drug that doesn’t include clotting factors. This drug can help prevent bleeding episodes in people with hemophilia A.

• #6 Hemophilia A (Factor VIII Deficiency) Treatment & Management: Approach Considerations, Prehospital Care, Emergency Department Care

  https://emedicine.medscape.com/article/779322-treatment

  Patients can be treated with prophylaxis or with intermittent, on-demand therapy for bleeding events. Prophylaxis has been shown in many studies to prevent or at least reduce the progression of damage to target sites, such as joints. […] According to a review of six randomized, controlled trials, preventive therapy started early in childhood, as compared with on-demand treatment, can reduce total bleeds and bleeding into joints, resulting in decreased overall joint deterioration and improved quality of life. […] Indeed, the International Society on Thrombosis and Haemostasis (ISTH) Hemophilia Guideline Panel recommends that patients with severe and moderately severe congenital hemophilia A without inhibitors be treated prophylactically rather than through episodic management of bleeding events.

• #7 Hemophilia B (Factor IX Deficiency) Treatment & Management: Approach Considerations, Prehospital Care, Emergency Department Care

  https://emedicine.medscape.com/article/779434-treatment

  Patients may be treated with prophylaxis or with intermittent, on-demand therapy for bleeding events. Prophylaxis has been shown in many studies to prevent or at least reduce the progression of damage to target sites, such as joints. […] According to a review of six randomized, controlled trials, preventive therapy started early in childhood, as compared with on-demand treatment, can reduce total bleeds and bleeding into joints, thus decreasing overall joint deterioration and improving patients’ quality of life. […] Indeed, the International Society on Thrombosis and Haemostasis (ISTH) Hemophilia Guideline Panel recommends that patients with severe and moderately severe congenital hemophilia B without inhibitors be treated prophylactically rather than through episodic management of bleeding events.

• #8 Hemophilia A (Factor VIII Deficiency) Treatment & Management: Approach Considerations, Prehospital Care, Emergency Department Care

  https://emedicine.medscape.com/article/779322-treatment

  In most developed countries with access to recombinant product, prophylaxis is primary (ie, therapy is started in patients as young as 1 y and continues into adolescence). A cost-benefit analysis indicates that this approach reduces overall factor use and significantly reduces morbidity. […] For prophylaxis, dosing is designed to maintain trough levels of 2% or higher. This usually requires the administration of FVIII three times per week. Individualized therapy (ie, tailored prophylaxis) has been also used with success; the best approach has yet to be determined. Monoclonal antibodies (ie, emicizumab, marstacimab) may also be used for prophylaxis. […] The treatment of patients with inhibitors of FVIII is difficult. Bleeding episodes in patients with low-titer inhibitors (ie, concentrations below 5 Bethesda units [BU]) occasionally can be overcome with high doses of factor VIII.

• #9 Hemophilia B (Factor IX Deficiency) Treatment & Management: Approach Considerations, Prehospital Care, Emergency Department Care

  https://emedicine.medscape.com/article/779434-treatment

  In most developed countries with access to recombinant product, prophylaxis is primary (ie, therapy is started in patients as young as 1 y and continues into adolescence). […] A cost-benefit analysis indicates that this approach reduces overall factor use and significantly reduces morbidity. […] Dosing is designed to maintain trough levels greater than 2%. […] With the development of FIX preparations that have extended half-lives, dosing for routine prophylaxis may be as infrequent as every 10 days. […] An option for prophylaxis is marstacimab, a monoclonal antibody directed against tissue factor pathway inhibitor, which was approved by the US Food and Drug Administration (FDA) in October 2024. […] Gene therapy offers the potential for a definitive cure and has entered clinical practice, with FDA approval of the first product in 2022.

• #10 How Is Hemophilia Treated? | Hematology-Oncology Associates of CNY

  https://www.hoacny.com/patient-resources/blood-disorders/what-hemophilia/how-hemophilia-treated

  When antibodies develop, doctors may use larger doses of clotting factor or try different clotting factor sources. Sometimes the antibodies go away. […] You can do both preventive (ongoing) and demand (as-needed) replacement therapy at home. Many people learn to do the infusions at home for their child or for themselves. Home treatment has several advantages: […] Discuss options for home treatment with your doctor or your child’s doctor. A doctor or other health care provider can teach you the steps and safety procedures for home treatment. […] Desmopressin (DDAVP) is a man-made hormone used to treat people who have mild hemophilia A. DDAVP isn’t used to treat hemophilia B or severe hemophilia A. […] DDAVP stimulates the release of stored factor VIII and von Willebrand factor; it also increases the level of these proteins in your blood.

• #11 Treating Hemophilia B | Bleeding Disorders

  https://www.bleedingdisorders.com/hemophilia-b/treatment

  Fewer visits to the healthcare provider (HCP) or emergency room are needed. Home treatment costs less than treatment in a medical care setting. […] Home treatment helps children accept treatment and take responsibility for their own health. […] Today, clotting factor IX concentrates can be made without human plasma. Infusions are called recombinant clotting factors. […] In the past 25+ years, significant advances have been made in the manufacturing of these recombinant clotting factors. Recombinant technology has helped produce factor concentrates that avoid the risk of human-viral contamination. […] The Medical and Scientific Advisory Council (MASAC) of the National Hemophilia Foundation (NHF) encourages the use of recombinant clotting factor products. Your HCP or your hemophilia treatment center (HTC) will help you decide which is right for you. […] Factor treatment has to be personalized to your lifestyle.

• #12 Hemophilia therapy: the future has begun

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7049365/

  The prospects of cure by means of gene therapy are also outlined. […] In the last decade, there has been tremendous progress in the available therapeutic armentarium, particularly for patients with the hemophilias. […] Primary prophylaxis of bleeding episodes became the evidence-based standard of care following the randomized clinical trial of Manco-Johnson et al., who demonstrated that this preventive regimen was clearly superior to the episodic management of bleeds, because it reduced the rate of their occurrence and also achieved a marked reduction in joint damage. […] The degree of adherence was often less than optimal, particularly in children and adolescents, owing to the burden created by the need of 2-3 or more weekly intravenous injections. […] Two extended half-life (EHL) recombinant coagulation factors were licensed in 2014: the Fc-fused FIX eftrenonacog alfa and the Fc-fused FVIII efmoroctocog alfa.

• #13

  https://haematologica.org/article/view/9274

  Frequent intravenous injections are necessary due to the relatively short plasma half-life of replaced coagulation factors. […] Thus, starting from the 2010s, attempts were made to engineer these factors by recombinant technology, with the goal of obtaining medications that remained in the circulation longer and thus reducing the number of intravenous injections. […] Two main techniques were introduced: (i) coagulation factor fusion to proteins like the Fc part of IgG1 or albumin; and (ii) conjugation with chemicals such as polyethylene glycol (PEG). […] Two extended half-life (EHL) recombinant coagulation factors were licensed in 2014: the Fc-fused FIX eftrenonacog alfa and the Fc-fused FVIII efmoroctocog alfa. […] Subsequently, other EHL FVIII and FIX products were clinically evaluated, licensed and marketed, so that three pegylated FVIII products plus an albumin fusion and a pegylated FIX product, in addition to the two Fc-fusion products, are now available.

• #14 Hemophilia A (Factor VIII Deficiency) Treatment & Management: Approach Considerations, Prehospital Care, Emergency Department Care

  https://emedicine.medscape.com/article/779322-treatment

  The main goal of prophylactic treatment is to prevent bleeding symptoms and organ damage, in particular to joints. Hemophilia arthropathy that results from recurrent or target joint bleeding can be prevented by this method. […] Prophylaxis is not universally accepted, with only about half the children with hemophilia A receiving this treatment modality in the United States. […] In 2014 the FDA approved a long-acting recombinant FVIIIFc fusion protein (rFVIIIFc) product (Eloctate) for control of bleeding episodes, management of perioperative bleeding, and routine prophylaxis in patients with hemophilia A. […] The rFVIIIFc product was developed by fusing rFVIII to the Fc portion of IgG1, which allows a naturally occurring pathway to prolong the product’s duration of action. […] The FDA approved the first gene therapy for hemophilia A, valoctocogene roxaparvovec (Roctavian), in June 2023. It is a one-time, single-dose IV adeno-associated virus vector-based gene therapy indicated for severe hemophilia A (congenital FVIII deficiency with FVIII activity 1 IU/dL) in adults without preexisting antibodies to adeno-associated virus serotype 5 (AAV5) detected by an FDA-approved test.

• #15

  https://haematologica.org/article/view/9274

  The median annualized bleeding rate (ABR), the parameter most commonly used to evaluate the clinical efficacy of antihemophilic products, ranged from 1 to 4 episodes, accumulating all the different prophylactic dosing regimens evaluated clinically for FVIII products. […] These ABR values compare favorably with those much higher values obtained with episodic regimens, ranging from 18 to 41. […] For EHL FIX products, the ABR had a similar range of values with different prophylaxis regimens. […] In practice, EHL FVIII products can be effectively administered twice instead of thrice weekly, but most patients are not satisfactorily protected from bleeds with weekly dosing regimens. […] EHL FIX products are much more satisfactory, because they can be given every 10 or even 15 days, and thus allow a lower annual burden of intravenous injections, the average reduction being more prominent (60%) than for FVIII products (~30%).

• #16 Understanding Current Bleeding Disorder Treatments | NBDF

  https://www.bleeding.org/bleeding-disorders-a-z/treatment/current-treatments

  New treatments that use other ways of preventing bleeds are also available. These treatments are known as non-factor replacement therapies. […] Emicizumab is not infused, but injected under the skin (subcutaneously). […] DDAVP (desmopressin acetate) is the synthetic version of vasopressin, a natural antidiuretic hormone that helps stop bleeding. […] Aminocaproic acid prevents the breakdown of blood clots. […] There are many new treatments for hemophilia A being developed, from gene therapy to new non-factor replacement therapies.

• #17 Treatment of hemophilia | Hemophilia

  https://www.hemophilia.ca/treatment-of-hemophilia/

  Non-factor replacement therapy is a type of treatment that is not based on the use of factor concentrates to replace factor VIII missing in people with hemophilia A and factor IX missing in people with hemophilia B. Non-factor therapies work differently – they are recombinant blood proteins or molecules engineered to perform the action of missing clotting factor or rebalance and restore coagulation capacity to people with hemophilia. […] Hemlibra is a bispecific monoclonal antibody – a type of protein made in the laboratory that can bind to factor IXa and factor X in the blood. It is not a factor protein but it mimics and performs the same function as factor VIII in the clotting process. It is also called a factor VIII mimetic. […] Hemlibra offers several advantages compared to factor concentrates. It provides a constant level of protection from bleeding at a level equivalent to having about 15% factor VIII. It is much easier to take. It is injected under the skin rather than into a vein like factor concentrate. There are fewer injections. This improves quality of life for people with hemophilia and their caregivers.

• #18 Treatment of Hemophilia | Hemophilia | CDC

  https://www.cdc.gov/hemophilia/treatment/index.html

  Giving factor treatment products at home means that bleeds can be treated more quickly, resulting in less serious bleeding and fewer side effects. […] Good quality medical care from healthcare providers who know a lot about the disorder can help people with hemophilia prevent some serious problems. […] This type of specialty care is at a comprehensive hemophilia treatment center (HTC). […] An HTC provides patients with the care and education to address all issues related to the disorder. […] The two main types of clotting factor concentrates available are plasma-derived factor concentrates and recombinant factor concentrates. […] Hemlibra works by replacing the function of factor VIII, rather than replacing the missing clotting factor VIII directly. […] It can be used to either prevent or reduce the frequency of bleeding episodes in people with hemophilia A.

• #19 Understanding Current Bleeding Disorder Treatments | NBDF

  https://www.bleeding.org/bleeding-disorders-a-z/treatment/current-treatments

  Emicizumab (Hemlibra) is a therapy used to treat hemophilia A, to prevent bleeding episodes in people both with and without inhibitors. […] Hemophilia A gene therapy has been approved by the FDA for the treatment of adults with severe hemophilia A without antibodies to adeno-associated virus serotype 5 (AAV5) detected by an FDA-approved diagnostic test. […] Hemophilia B gene therapy has also been approved by the FDA for the treatment of adults with hemophilia B who currently use factor IX (FIX) prophylaxis therapy, or have current or historical life-threatening hemorrhage, or have repeated, serious spontaneous bleeding episodes. […] The main medication to treat hemophilia A is concentrated FVIII product, called clotting factor or simply factor. […] To maintain enough clotting factor in the bloodstream to prevent bleeds, patients with severe hemophilia are typically prescribed a regular treatment regimen, called prophylaxis or prophy for short.

• #20 Treatment of hemophilia | Hemophilia

  https://www.hemophilia.ca/treatment-of-hemophilia/

  Gene therapy for hemophilia is a promising new option first approved in 2023. It is a one-time treatment that enables a person to produce factor VIII or IX on their own, but it is not a full cure and not for everyone. […] The factor VIII mimetic Hemlibra provides very effective prophylaxis for hemophilia A. It provides a steady clotting factor activity level equivalent to about 15% factor VIII and results in over 90% fewer bleeds in most people with severe hemophilia A. […] In prophylaxis therapy, people with hemophilia receive treatment at regular intervals to prevent and control bleeding episodes, from several times a week to once a week or up to once a month, depending on the type of treatment. The goal of prophylaxis is to decrease the risk of bleeding and help control bleeding if it does occur.

• #21 Advances in the management of haemophilia: emerging treatments and their mechanisms | Journal of Biomedical Science | Full Text

  https://jbiomedsci.biomedcentral.com/articles/10.1186/s12929-021-00760-4

  Given its limitations, improving haemophilia management remains an important aim and has attracted a large amount of research. This review will discuss novel mechanisms of treating haemophilia, potentially circumventing the limitations of current factor replacement therapy. […] EHL products have shown great promise as an alternative to standard factor replacement, reducing the administration frequency and thus improving patient QoL and prognosis. However, there is a lack of comparison between the different EHL products. […] Emicizumab, a recombinant humanised bispecific IgG antibody, mimics the cofactor function of the missing FVIII in HA. It simultaneously binds activated FIX (FIXa) and factor X (FX), bringing them into spatial proximity to promote FIXa-catalysed FX activation, thereby restoring haemostasis.

• #22 Past, present & future of hemophilia treatment: from prophylaxis to gene therapies | VJHemOnc

  https://www.vjhemonc.com/feature/past-present-future-of-hemophilia-treatment-from-prophylaxis-to-gene-therapies/

  Extended half-life (EHL) factor products currently exist for both hemophilia A and B. These products are typically fusion proteins for example, recombinant factor fused to an IgG Fc region to promote its recycling. […] Emicizumab is a substitution treatment for patients with hemophilia A. It is a bispecific antibody which binds FX and FIXa, restoring the missing function of FVIII in the clotting cascade. […] Recently, the HAVEN 6 (NCT04158648) trial investigated the safety and efficacy of emicizumab prophylaxis for patients with non-severe hemophilia A without inhibitors. A strong reduction in ABR was observed. […] Concizumab is a monoclonal antibody which inhibits the tissue factor pathway inhibitor (TFPI). Concizumab can be used to treat hemophilia A and B and is unaffected by factor inhibitors because its mechanism of action is independent of FVIII and FIX.

• #23 Treatment of Hemophilia | Hemophilia | CDC

  https://www.cdc.gov/hemophilia/treatment/index.html

  DDAVP and Stimate are medications that are similar to a hormone that occurs naturally in the body. […] The medications release factor VIII from where it is stored in the body tissues. […] Amicar is a medication that can be given through a vein or by mouth (as a pill or a liquid). […] Roctavian is a gene therapy that was approved by the FDA on June 29, 2023, for the treatment of severe hemophilia A (factor VIII deficiency) in adults. […] Hemgenix is a gene therapy that was approved by the FDA on November 22, 2022, for the treatment of hemophilia B (factor IX deficiency) in adults.

• #24 Hemophilia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hemophilia/diagnosis-treatment/drc-20373333

  Clot-preserving medications. Also known as anti-fibrinolytics, these medications help prevent clots from breaking down. […] Fibrin sealants. These can be applied directly to wound sites to promote clotting and healing. Fibrin sealants are especially useful for dental work. […] Physical therapy. It can ease signs and symptoms if internal bleeding has damaged your joints. Severe damage might require surgery. […] First aid for minor cuts. Using pressure and a bandage will generally take care of the bleeding. For small areas of bleeding beneath the skin, use an ice pack. Ice pops can be used to slow down minor bleeding in the mouth.

• #25 Treatment of hemophilia | Hemophilia

  https://www.hemophilia.ca/treatment-of-hemophilia/

  On-demand therapy is the infusion of factor concentrates immediately after bleeding starts. The goal is to stop the bleeding right away before any damage is done to joints and muscles, the most common sites of bleeding in people with hemophilia. […] Desmopressin is useful in treating people with mild or moderate hemophilia A. Desmopressin may be the treatment of choice for patients with mild or moderate hemophilia A when factor VIII can be raised to an appropriate therapeutic level because it avoids the expense and potential hazards of using factor VIII concentrates, including the risk of developing inhibitors. […] Cyklokapron (tranexamic acid) and Amicar (aminocaproic acid) are useful in treating both hemophilia A and B. These medications come in the form of oral tablets.

• #26 Hemophilia A (Factor VIII Deficiency) Treatment & Management: Approach Considerations, Prehospital Care, Emergency Department Care

  https://emedicine.medscape.com/article/779322-treatment

  Options in other cases include a variety of agents that bypass FVIII, such as activated FVII and emicizumab; desensitization; and immune tolerance induction. […] In patients who develop synovitis from joint bleeds, injection of radioisotopes into the joint to ablate the synovium (radiosynovectomy) can be used to decrease bleeding, slow progression of cartilage and bone damage, and prevent arthropathy. […] Increasing evidence associates hemophilia with low bone mineral density; consequently, careful assessment and management of fracture risk are recommended. Regular exercise, fall prevention strategies, and optimization of calcium and vitamin D intake are recommended, along with prophylactic factor replacement therapy in severe hemophilia. […] Desmopressin vasopressin analog, or 1-deamino-8-D-arginine vasopressin (DDAVP), is considered the treatment of choice for mild and moderate hemophilia A. It is not effective in the treatment of severe hemophilia.

• #27 Hemophilia Treatment: Effectiveness and Advancements

  https://www.healthline.com/health/hemophilia-treatment

  Hemophilia is a serious condition that can limit the ability to avoid episodes of bleeding. Treatment includes regular infusions of proteins to replace what the body doesn’t produce naturally. […] The treatment of hemophilia depends on the type. […] Concentrated FVIII product, also called clotting factor, is the primary treatment for hemophilia A. This comes in two types: plasma-derived and recombinant. […] Non-factor replacement therapies are another way of treating hemophilia A. One treatment is emicizumab, a protein synthesized in a laboratory that replaces an activity customarily carried out by the FVIII protein. […] Desmopressin acetate (DDAVP) is a synthetic version of an antidiuretic hormone that helps control bleeding. […] Aminocaproic acid keeps blood clots from breaking down.

• #28 What Is Hemophilia?

  https://my.clevelandclinic.org/health/diseases/14083-hemophilia

  Some people who have replacement therapy develop antibodies (called inhibitors) that attack the clotting factors. Healthcare providers address this with a technique called immune tolerance induction (ITI). ITI involves giving clotting factors given on a daily basis to bring down inhibitor levels. ITI may be a long-term treatment, and some people may need this treatment for months or years.

• #29 Hemophilia A (Factor VIII Deficiency) Treatment & Management: Approach Considerations, Prehospital Care, Emergency Department Care

  https://emedicine.medscape.com/article/779322-treatment

  DDAVP stimulates a transient increase in plasma FVIII levels. […] The treatment of patients with inhibitors of FVIII is difficult. Assuming no anamnestic response, low-titer inhibitors (ie, concentrations below 5 Bethesda units [BU]) occasionally can be overcome with high doses of factor VIII. […] Other approaches to treating patients with FVIII inhibitors include the following: Porcine FVIII, which has low cross-reactivity with human FVIII antibody; Activated prothrombin complex concentrate (aPCC); Activated recombinant FVII (rFVIIa); Desensitization; Immune tolerance induction (ITI); Monoclonal antibodies that bridge FIXa and FX (eg, emicizumab). […] The bispecific monoclonal antibody emicizumab is approved for prophylaxis in adults and children (including newborns) who have hemophilia A with or without FVIII inhibitors.

• #30 Medication for Hemophilia in Children | NYU Langone Health

  https://nyulangone.org/conditions/hemophilia-in-children/treatments/medication-for-hemophilia-in-children

  A doctor may use immune tolerance therapy, also known as immune tolerance induction, to eliminate antibodies to a clotting factor. […] Immune tolerance therapy is effective for many children who have an immune reaction to clotting factor. […] Desmopressin is a synthetic hormone that stimulates the release of von Willebrand factor, a clotting factor that is stored in the lining of blood vessels. […] Our doctors may recommend this medication, which is available as a nasal spray or with an injection, for children over age two who have mild hemophilia type A to control bleeding before surgery or dental procedures. […] To help with blood clotting, doctors may prescribe clot stabilizers, also known as antifibrinolytic medications. […] Clot stabilizers are effective in preventing excessive bleeding in the nose and mouth, and in children with mild to moderate hemophilia A or B.

• #31 Hemophilia

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

  Gene therapy for hemophilia A or hemophilia B would deliver a working copy of the faulty gene into the liver cells with instructions to produce the missing clotting factor. […] Gene therapy has been shown to reduce the rate of annual bleeds with hopes of improving the quality of life for people living with the disease. […] BEQVEZ is an AAV-based gene therapy given one time for the treatment of adults with Hemophilia B (congenital Factor IX deficiency) who: […] HEMGENIX is an AAV-based gene therapy given one-time for the treatment of adults with Hemophilia B (congenital Factor IX deficiency) who: […] ROCTAVIAN an AAV-based gene therapy given one-time for the treatment of adults with severe Hemophilia A (congenital factor VIII deficiency) who: […] It is important to inform your primary medical provider or hematologist to understand if a gene therapy is the best option for you and to understand health insurance coverage, along with short- and long-term risks.

• #32 Hemophilia

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

  Hemophilia is a genetic disease that prevents blood from clotting properly leading to prolonged internal and external bleeding. […] Learn how gene therapy works to slow or stop disease progression by instructing cells to produce the missing clotting factor, along with information on approved therapies and clinical trials. […] BEQVEZ is an FDA-approved gene therapy for the treatment of adults with Hemophilia B (congenital factor IX deficiency). […] HEMGENIX is an FDA-approved gene therapy for the treatment of adults with hemophilia B (congenital Factor IX deficiency). […] ROCTAVIAN is an FDA-approved gene therapy for the treatment of adults with severe hemophilia A (congenital factor VIII deficiency). […] Gene therapy aims to be given one time with the goal of eliminating the need for recurring treatments.

• #33 Hemophilia B (Factor IX Deficiency) Treatment & Management: Approach Considerations, Prehospital Care, Emergency Department Care

  https://emedicine.medscape.com/article/779434-treatment

  The long-acting recombinant FIX albumin fusion protein (Idelvion) was approved in 2016 for prophylaxis to reduce the frequency of bleeding episodes. […] In 2013, the FDA approved the first recombinant coagulation factor IX (Rixubis) specifically indicated for the routine prevention of bleeding in children and adults with hemophilia B. […] In 2014, Rixubis was approved for routine prophylactic treatment, control and prevention of bleeding episodes, and perioperative management in children with hemophilia B. […] In 2022, the FDA approved etranacogene dezaparvovec (Hemgenix), an AAV5-based gene therapy, for the treatment of adults with hemophilia B who currently use FIX prophylaxis therapy, have current or historical life-threatening hemorrhage, or have repeated, serious spontaneous bleeding episodes.

• #34 Hemophilia Treatment Centers (HTCs) | Hemophilia | CDC

  https://www.cdc.gov/hemophilia/treatment/treatment-centers.html

  Hemophilia treatment centers (HTCs) provide specialized health care for people who have bleeding disorders. […] Good quality medical care from doctors and nurses who know a lot about the disorder can help prevent some serious problems. […] This type of specialty care can be found at a comprehensive hemophilia treatment center (HTC). […] Comprehensive HTCs emphasize prevention services to help reduce or eliminate complications. These services include using preventive medicine and connecting patients with community groups that provide education and support to families. […] Federally funded HTCs throughout the United States can participate in CDC’s Community Counts program, which collects a consistent set of data to monitor the health of people with hemophilia. The data are used to advance knowledge and eventually impact health practices for this condition and other related disorders.

• #35 Hemophilia A (Factor VIII Deficiency) Treatment & Management: Approach Considerations, Prehospital Care, Emergency Department Care

  https://emedicine.medscape.com/article/779322-treatment

  The treatment of hemophilia may involve prophylaxis, management of bleeding episodes, treatment of factor VIII (FVIII) inhibitors, and treatment and rehabilitation of hemophilia synovitis. Use of factor replacement products and other medications, including pain medications, is typically required. […] Treatment of patients with hemophilia ideally should be provided through a comprehensive hemophilia care center. These centers, which are found in many US cities, follow a multidisciplinary approach, with specialists in hematology, orthopedics, dentistry, and surgery; nurses; physiotherapists; social workers; and related allied health professionals. Patients treated at comprehensive care clinics have been shown to have better access to care, less morbidity, and better overall outcome. […] Ambulatory replacement therapy for bleeding episodes is essential for preventing chronic arthropathy and deformities. Home treatment and infusion by the family or patient is possible in most cases. Prompt and appropriate treatment of hemorrhage is important to prevent long-term complications and disability.

• #36 Hemophilia | Blood Disorders | MedStar Health

  https://www.medstarhealth.org/services/hemophilia

  The National Hemophilia Foundation recommends people with bleeding disorders „Do the Five” steps to avoid or reduce the chances of complications. […] Bleeding disorders are highly complex, which is why hemophilia requires care from a specialized team of experts who work together across medical specialties to determine the best approach for you. […] Patients of all ages choose MedStar Health for hemophilia treatment because we offer: Federal designation as a Hemophilia Treatment Center (HTC). […] A study conducted by the Centers for Disease Control and Prevention (CDC) showed that people with hemophilia who sought care from an HTC were 40% less likely to die from a bleeding-related complication than those who did not. […] Comprehensive, multidisciplinary approach: As a comprehensive HTC, patients benefit from access to a range of healthcare specialists in hematology (blood medicine), orthopedics, physical therapy, pathology, nursing, social work, and more to help patients with hemophilia live long, healthy lives.

• #37 Hemophilia Treatment Centers | Hemophilia Association of the Capital Area

  https://hacacares.org/support-resources/hemophilia-treatment-centers/

  Research shows comprehensive care leads to improved medical and quality of life outcomes, including: Longer, healthier lives, Early detection of complications, Decrease in emotional and social dysfunction, Lower unemployment rates, Greater medical insurance coverage, Integration and stability of family, Overall high consumer satisfaction. […] The HTC has a dedicated, multi-disciplinary team of specialists involved in all aspects of a patient’s health and well-being, including a hematologist, two nurse coordinators, social worker, physical therapist, and orthopedic surgeons.

• #38 Hemophilia – Luskin Orthopaedic Institute for Children

  https://www.luskinoic.org/hemophilia

  Restorative physical therapy takes place after doctors have already treated and stabilized the joint bleed. The goal of this kind of physical therapy is to increase: […] At LuskinOICs Orthopaedic Hemophilia Treatment Center (OHTC), we set the standard in treating hemophilia joint and limb issues. […] Weve consistently been pioneers for our patients: we were the first comprehensive care center on the West Coast, we performed the first successful hip replacement surgery in a patient with hemophilia, and through clinical trials we have been providing the newest treatments available. […] In addition to treatment, we conduct groundbreaking research, provide innovative and personalized physical therapy, and offer genetic counseling for patients and their families. […] OHTC has been an innovator from the very beginning and was the first comprehensive hemophilia treatment center in Southern California. Whether your patient has hemophilia or another bleeding disorder, you can count on our team to provide the highest quality care.

• #39 Past, present & future of hemophilia treatment: from prophylaxis to gene therapies | VJHemOnc

  https://www.vjhemonc.com/feature/past-present-future-of-hemophilia-treatment-from-prophylaxis-to-gene-therapies/

  Past, present future of hemophilia treatment: from prophylaxis to gene therapies […] VJHemOnc is excited to present the latest developments in the treatment of hemophilia […] The treatment landscape for hemophilia is expanding. Improvements to established therapies and the development of novel strategies, such as the recently FDA approved gene therapies, are relieving the treatment burden of prophylaxis and improving patient lives. […] Treatment for hemophilia is typically prophylactic, preventing bleeds by allowing clot formation. This can be achieved through factor replacement therapies, non-replacement therapies or, more recently, gene therapies. […] Prophylactic factor replacement therapy is recognized as the standard of care for hemophilia, where the missing clotting factor is replaced by regular intravenous administration of a plasma-derived (pd) or recombinant factor (r).

• #40 Hemophilia: Our Approach to New Therapeutics

  https://www.sanofi.com/en/magazine/our-science/science-behind-sanofis-hemophilia-pipeline

  People living with hemophilia are looking for treatments that last longer and make life more predictable and manageable. […] Thats why scientists are investigating three different approaches to preventing bleeds in people with missing or insufficient blood-clotting factors: […] In clinical studies, were investigating a new class of factor VIII replacement therapy. It’s designed to sustain high protection from bleeds in people with hemophilia A, with factor levels in the normal to near-normal range for most of the week. […] Our goal is to help people live more active lives and think about their treatments less. […] Were studying a treatment thats based on small interfering RNA (siRNA). Its designed to rebalance the missing blood-clotting factors in people with hemophilia A and B, with or without inhibitors (antibodies that attack replacement factors), potentially offering prophylaxis with as few as 6 injections per year.

• #41 FDA Approves Novel Treatment for Hemophilia A or B, with or without Factor Inhibitors | FDA

  https://www.fda.gov/news-events/press-announcements/fda-approves-novel-treatment-hemophilia-or-b-or-without-factor-inhibitors

  Today, the U.S. Food and Drug Administration approved Qfitlia (fitusiran) for routine prophylaxis to prevent or reduce the frequency of bleeding episodes in adult and pediatric patients 12 years of age and older with hemophilia A or hemophilia B, with or without factor VIII or IX inhibitors (neutralizing antibodies). […] Todays approval of Qfitlia is significant for patients with hemophilia because it can be administered less frequently than other existing options, said Tanya Wroblewski, M.D., deputy director of the Division of Non-Malignant Hematology in the FDAs Center for Drug Evaluation and Research. This new treatment option highlights our continued efforts to improve the lives of patients with hemophilia. […] Qfitlia does not replace the missing clotting factor. Rather, it reduces the amount of a protein called antithrombin, leading to an increase in thrombin, an enzyme critical for blood clotting.

• #42 FDA Approves New Treatment for Hemophilia A or B | FDA

  https://www.fda.gov/news-events/press-announcements/fda-approves-new-treatment-hemophilia-or-b

  Today, the U.S. Food and Drug Administration approved Hympavzi (marstacimab-hncq) for routine prophylaxis to prevent or reduce the frequency of bleeding episodes in adult and pediatric patients 12 years of age and older with hemophilia A without factor VIII inhibitors or hemophilia B without factor IX inhibitors (neutralizing antibodies). […] Todays approval of Hympavzi provides patients with hemophilia a new treatment option that is the first of its kind to work by targeting a protein in the blood clotting process, said Ann Farrell, M.D., Director of the Division of Non-Malignant Hematology in the FDAs Center for Drug Evaluation and Research. This new type of treatment underscores the FDAs commitment to advance the development of innovative, safe and effective therapies. […] Hympavzi is a new type of drug that, rather than replacing a clotting factor, works by reducing the amount, and therefore, the activity of, the naturally occurring anticoagulation protein called tissue factor pathway inhibitor. This increases the amount of thrombin, an enzyme that is critical in blood clotting, that is generated. This is expected to reduce or prevent the frequency of bleeding episodes.

• #43 Past, present & future of hemophilia treatment: from prophylaxis to gene therapies | VJHemOnc

  https://www.vjhemonc.com/feature/past-present-future-of-hemophilia-treatment-from-prophylaxis-to-gene-therapies/

  The novel approaches discussed here increase treatment options for patients with hemophilia who develop inhibitors from factor replacement therapy, or who cannot afford or manage weekly infusions. Novel non-replacement therapies are effective for patients with hemophilia A and B regardless of their inhibitor status, and the recently-approved AAV-based gene therapies offer the potential for a one-time treatment for hemophilia A and B. […] While there are still hurdles regarding the treatment and financial burden on patients, the therapeutic landscape for hemophilia is constantly evolving and improving.

• #44 Hemophilia Treatment Advances: From Factor Replacement to Gene Therapy – Green Bay Oncology

  https://gboncology.com/hemophilia-treatment-advances-from-factor-replacement-to-gene-therapy/

  Were in a remarkable era for hemophilia treatment, with options available today that were unimaginable just a decade ago. […] A condition that once significantly limited life expectancy and quality of life is now increasingly manageable, thanks to groundbreaking treatment advancements including extended half-life factors, non-factor therapies, and gene therapy. […] Historically, hemophilia treatment focused on replacing the missing clotting factor through infusions. […] The development of extended half-life factor replacement therapies marked a significant advancement in hemophilia treatment. […] Next came a new class of drugs known as non-factor therapies, which act differently from traditional factor replacement. […] The most revolutionary advancement in hemophilia treatment may be gene therapy.

• #45 Hemophilia Treatment Advances: From Factor Replacement to Gene Therapy – Green Bay Oncology

  https://gboncology.com/hemophilia-treatment-advances-from-factor-replacement-to-gene-therapy/

  Clinical trials have shown promising results, with some patients achieving normal or near-normal levels of clotting factors after a single gene therapy treatment. […] Although gene therapy is not yet widely available, it represents the next frontier in hemophilia care. […] A future where hemophilia treatment is as simple as a one-time gene therapy is within reach. […] These advances in hemophilia treatment from factor replacement to non-factor therapies to gene therapy were made possible by the bravery of patients who participated in clinical trials.

• #46 Recent Advances in Gene Therapy for Hemophilia: Projecting the Perspectives

  https://www.mdpi.com/2218-273X/14/7/854

  Recent Advances in Gene Therapy for Hemophilia: Projecting the Perspectives […] One of the well-known X-linked genetic disorders is hemophilia, which could be hemophilia A as a result of a mutation in the F8 (factor VIII) gene or hemophilia B as a result of a mutation in the F9 (factor IX) gene, leading to insufficient levels of the proteins essential for blood coagulation cascade. […] Current treatment of hemophilia relies on the prevention of bleeding, which consists of expensive lifelong replacement infusion therapy of blood plasma clotting factors, their recombinant versions, or therapy with recombinant monoclonal antibodies. […] Gene therapy can be considered the most promising method for treating hemophilia A and B. […] The desired implementation of this treatment approach is a one-time vector injection, which leads to constant endogenous production of factor FVIII or IX. […] The search of the literature was conducted using the PubMed database and keywords such as “hemophilia” AND “gene therapy”, OR “therapy of hemophilia”. This therapeutic approach remains the top choice due to its ability to overcome the problems associated with traditional treatment methods. […] Gene therapy stands out as a more viable treatment option despite the relatively extensive range of therapeutic alternatives available for hemophiliac patients. This is because gene therapeutics transfer a functional copy of the appropriate gene to induce endogenous synthesis of FVIII or FIX. […] AAVs are currently the preferred vectors for gene delivery, considering their safety and effectiveness. […] Gene therapy has a clear advantage over the use of recombinant purified FVIII and FIX, as well as antibodies, as it enables the long-term expression of transgenes. This will ultimately reduce the burden on healthcare in the future.

• #47 Treatment | Sanofi Rare Blood Disorders

  https://www.rareblooddisorders.com/patient/resources/hemophilia/education/treatment/

  Everyone has different needs when it comes to their hemophilia treatment. Knowing what options are available and understanding how they work can help you have productive conversations with your care team and find the treatment that can open up more possibilities for you. […] There are several different ways of treating hemophilia. Work with your doctor to better understand how lifestyle, hemophilia severity, and other circumstances may inform how to manage your condition. […] This form of treatment replaces the missing clotting factor in blood to help with clotting and provide protection from bleeds. […] Non-factor therapies aim to enhance clotting by mimicking the activity of clotting factors to provide ongoing prophylactic bleed prevention. […] Infusion treatments are given preventatively at regular intervals.

• #48 Treatment and Care | World Federation of Hemophilia

  https://wfh.org/treatment-and-care/

  The WFH SDM Tool provides a framework to guide PWH through the thought process regarding treatment goals and preferences, provides evidence-based and balanced education on expected outcomes by treatment class, and helps PWH navigate the complexities of the current treatment options. […] Despite advancements in care, people with hemophilia (PWH) still face major challenges around the world. Lack of access to care means that two-thirds of the global hemophilia population lacks treatment. Even in higher income countries, treatment is burdensome and breakthrough bleeding occurs. While recent therapies have addressed some critical needs, and commercialized gene therapies for hemophilia have shown encouraging, yet variable, results, a cure remains distant for most PWH. Continued innovation is essential to ensure better care for the global hemophilia community.

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