Introduction
Where a paper cut can’t be healed with a bandaid, hemophilia- a hereditary bleeding disorder- has long affected and challenged patients due to its inherent complexities. Traditional treatments, such as factor replacement theory, an action to replace the missing blood clotting factor for the blood to clot properly, offer a temporary cure. However, recent advancements in technology show unprecedented solutions in introducing revolutionary hemophilia treatments- offering relief for long-time patients.
Background Context
Hemophilia, a rare genetic disorder that causes defective blood clotting in those affected, primarily males, can be classified into several types. However, the most common can be associated with hemophilia A and hemophilia B- with hemophilia B affecting more people. Hemophilia A is caused by a deficiency in clotting factor VII, and hemophilia B is caused by a deficiency in clotting factor IX.
Individuals affected by hemophilia are prone to excessive bleeding, from minor to major injuries. This may lead to joint damage, internal bleeding, and severe cases of hemorrhage.
Recent Advances in Gene Therapy for Hemophilia
Gene therapy operates by correcting genetic anomalies underlying hemophilia. Multiple initiatives such as viral vectors and non-viral delivery systems have been established to deliver genes in order to target crucial factors affecting hemophilia such as factor VIII and factor IX. Recent clinical trials show promising results in the progress of treating hemophilia. Such as AAV (adeno-associated virus)-based gene therapy and Roctavian.
Gene therapy using AAV vectors shows favorable results during its clinical trials- showing sustained expression of clotting factors and reducing prolonged bleeding within hemophilia patients. However, the limitations include immune responses, liver enzyme elevations, and uncertain long-term efficacy.
Roctavian is a gene therapy for severe hemophilia A within adults, without pre-existing antibodies to AAV. Hemophilia A is a rare genetic bleeding disorder caused by a deficiency in clotting factor VIII (FVIII). As a one-time gene therapy administered via intravenous infusion, this type of gene therapy aims to increase FVIII levels and reduce the affected patient’s bleeding risk.
In a study involving adult men (ages 18 to 70) with severe hemophilia A, previously treated with FVIII replacement therapy, the safety and effectiveness of Roctavian had been positively proved- with results showing a significant reduction withing episodes of bleeding after this gene therapy treatment. However, it is warned that treatment response may decrease over time as side effects include mild liver function changes, headaches, nausea, and fatigue (theoretical risks such as thromboembolic events- occurring when a blood clot forms in a vein- and cancer were noted; however, no instances were observed in the clinical studies).
Conclusion
While challenges do exist, the revolutionary progress in gene therapy towards hemophilia remains an unexplored yet promising area within clinical research- with gene therapy redefining the landscape of hemophilia treatment.
References
CDC. “Treatment of Hemophilia | CDC.” Centers for Disease Control and Prevention, 14 Jan. 2020, www.cdc.gov/ncbddd/hemophilia/treatment.html#:~:text=The%20best%20way%20to%20treat.
Commissioner, Office of the. “FDA Approves First Gene Therapy for Adults with Severe Hemophilia A.” FDA, 30 June 2023, www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-adults-severe-hemophilia.
Miesbach, Wolfgang, et al. “Gene Therapy for Hemophilia—Opportunities and Risks.” Deutsches Ärzteblatt International, vol. 119, no. 51-52, Dec. 2022, https://doi.org/10.3238/arztebl.m2022.0353. Accessed 31 Mar. 2024.
Assessed and Endorsed by the MedReport Medical Review Board
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