New Delhi: Indian scientists have introduced the first-in-human gene therapy for severe haemophilia A using lentiviral vectors. This approach was developed by the Centre for Stem Cell Research (CSCR) at Christian Medical College (CMC), Vellore—a translational unit of BRIC-inStem was supported by the Department of Biotechnology and has shown remarkable results.
Earlier this year, CMC-Vellore conducted India’s first human clinical trial of gene therapy for haemophilia A (Factor VIII deficiency). The single-centre trial involved five participants aged 22 to 41 years, and the results have been transformational.
According to findings published in the peer-reviewed New England Journal of Medicine, all participants achieved zero annualised bleeding rates following the therapy. This was accompanied by sustained production of Factor VIII, eliminating the need for frequent infusions. The effect was observed over a cumulative follow-up period of 81 months, with Factor VIII activity levels strongly correlating with vector copy numbers in the peripheral blood.
Haemophilia A, a severe bleeding disorder caused by Factor VIII deficiency, affects patients’ quality of life due to spontaneous bleeding episodes. Although rare, India has the world’s second-largest burden of haemophilia, with approximately 136,000 cases. Existing treatments require regular Factor VIII replacement therapy, which faces barriers like high costs, difficulty in venous access for children, and low patient acceptance.
The new gene therapy involves introducing a normal copy of the Factor VIII gene into autologous haematopoietic stem cells (HSCs) using a lentiviral vector. These modified HSCs then produce blood cells capable of generating functional Factor VIII for extended durations.
Participants were closely monitored for six months post-therapy, with results confirming the long-term efficacy and safety of the approach. Researchers noted a robust correlation between Factor VIII activity levels and vector copy numbers in peripheral blood.
“This therapy represents a significant leap forward in accessible and effective treatments for haemophilia A, especially in resource-limited settings,” the researchers said. The success of this trial opens new avenues for addressing previously incurable conditions.
The therapy is expected to proceed to the second phase of human trials soon, offering renewed hope to patients with severe haemophilia A and potentially setting the stage for similar breakthroughs in treating other genetic disorders.