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Research on Hemophilia
Research on Hemophilia
Hemophilia is a rare genetic bleeding disorder caused by the inability of the body to create enough clotting factors that are responsible to stop bleeding. The two major types of Hemophilia are Hemophilia A caused by deficiency of Factor VIII and Hemophilia B which results from the deficiency of Factor IX. Most people with hemophilia inherited it genetically, but in about 30% of the cases, it was caused by a spontaneous mutation in the gene associated with blood clotting. Treatment for Hemophilia is extremely difficult, but the latest options look promising for improving the quality of life for those suffering from this disorder.
Treatment of hemophilia A is quite challenging due to the development of antibodies that inhibit the activity of factor VIII over time. These antibodies attack the clotting factor infused in the blood in the treatment of hemophilia. Thus making the treatment less effective. Ultimately, researchers hope to prevent their development. Recently a treatment is approved by the FDA specifically for those patients with factor VIII inhibitors. Patients taking the treatment called emicizumab-kxwh experienced fewer bleeding episodes per year as compared to those who did not take the treatment. In 2018, Hemlibra was also approved by the FDA for patients without inhibitors, giving another treatment option for all hemophilia A patients.
Hemophilia B is rarer than hemophilia A. It is caused due to the deficiency of factor IX clotting agents in the blood. Investigation on gene therapy for the treatment of hemophilia that would target factor IX with a corrective of the gene is being conducted by few different clinical trials. Recently, Sangamo Therapeutics, Inc. began enrolling patients into a trial for SB-FIX (gene therapy for hemophilia B that may allow patients with this type of hemophilia to make their own factor IX protein). SB-FIX inserts a correct copy of an F9 gene into the liver cells by cutting the DNA in a region that is under the control of the albumin promoter (highly active in liver cells). This provides the instructions to build clotting factor IX.
More research needed into Physiotherapy and Rehab for Hemophilia patients needed
Physiotherapy and rehabilitation programs may help people with Hemophilia to manage bleeding and arthropathy (joint disease). Yet more research is required to better understand these programs. Excessive bleeding into muscles and joints can lead to progressive generation, inflammation of joint cartilages, causing swelling and pain. This leads to a condition called arthropathy. Prophylactic treatment aims to provide patients with synthetic coagulation factors to replace the factors that patients lack so as to minimize the bleeding episodes to prevent the development of arthropathy. Physiotherapy may also help reduce bleeding and damage to the joints but there are no established guidelines on the ideal rest period after exercising. The World Federation of Hemophilia issued guidelines that indicate to commence immobilization immediately after a bleed and continue until the pain resolves. To prevent unwanted complications associated with immobilization, a balance should be established between rest, early mobilization, and weight-bearing.
Studies find that 50 to 80% of hemophilia patients avoid physical exercise due to pain in muscles and joints, though it is recommended as a treatment for musculoskeletal conditions like osteoarthritis and rheumatoid arthritis. Moreover, studies showing the effectiveness of Physiotherapy and rehabilitation programs to alleviate chronic pain in hemophilia patients report varied results and hence are controversial. Though there is reasonable evidence that exercise can have a positive impact on maximizing mobility, function, and quality of life in people with hemophilia, it is not possible to confirm its effectiveness due to the small number of studies and diversity of outcomes.
Physiotherapy and rehabilitation programs may benefit the patients with hemophilia but still more research with a larger number of patients is required to assess a well-defined set of clinical outcomes.
As factor replacement theory replaces what is missing in the body, it remains the cornerstone of hemophilia care. But hemophilia research is evolving rapidly and researchers are developing new ways to treat the disease. Genome-editing technologies such as zinc finger nuclease, TALEN, and CRISPR/Cas9 systems are improved significantly. The future use of these technologies is highly expected.