Scientists in India have achieved a significant breakthrough in treating severe Hemophilia A with a novel gene therapy. The early trial results indicate a potential one-time cure for this rare and debilitating genetic condition. The study, conducted by researchers at the Centre for Stem Cell Research (CSCR) at Christian Medical College, Vellore, and supported by the Union Department of Biotechnology, offers new hope for patients suffering from this condition.
Promising Results from Initial Trial
The first phase trial involved five patients aged between 22 and 41 years. Over an average follow-up period of 14 months, none of the patients reported any bleeding episodes. This is a significant improvement, as individuals with severe Hemophilia A often experience weekly bleeding episodes requiring frequent treatment. The findings were published in the New England Journal of Medicine.
Dr. Alok Srivastava, the lead author of the study and head of haematology research unit at St John’s Research Institute, Bengaluru, noted the excellent outcomes observed in median factor-VIII levels during the treatment and follow-up period. Before the therapy, all patients had reported an annualised bleeding rate of at least 20 events.
Addressing a Critical Unmet Need
Hemophilia A, the most common form of hemophilia, is caused by the absence of a blood-clotting factor called Factor VIII. Individuals with severe Hemophilia A have less than 1% of this clotting factor, requiring repeated Factor VIII replacement, monoclonal antibodies, or other substances to manage the condition. India has the world’s second-largest Hemophilia patient population, estimated between 40,000 and 100,000 individuals. The cost of treating a hemophiliac in India can be substantial, estimated at $300,000 over a 10-year period.
Lentiviral Vector Approach
The new gene therapy involves extracting stem cells from the patient's blood and using a lentiviral vector to introduce a corrected gene. These modified cells are then transplanted back into the patient, enabling the body to produce Factor VIII autonomously. This approach differs from Roctavian, the only gene therapy approved by the U.S. Food and Drug Administration for commercial use, which uses an adenovirus as a vector and involves the liver in producing Factor VIII. The Indian scientists suggest that using a lentivirus is safer and potentially opens up gene therapy treatment to children.
Potential for Broader Impact
Experts believe this new gene therapy could be a game-changer in haematology treatment globally. It offers a one-time or infrequent intervention compared to conventional treatments that require regular administration of clotting factor concentrates. Successful gene therapy could eliminate the need for scarce and expensive clotting factor concentrates or plasma products. Furthermore, the indigenous development of this therapy could make it more affordable and accessible to patients in resource-constrained settings.
Dr. Rabindra Kumar Jena, a bone marrow transplant physician, stated that the therapy's effectiveness in drastically reducing the frequency and severity of spontaneous bleeding episodes would significantly improve patients' overall quality of life.
