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In a groundbreaking medical achievement, Indian scientists have successfully developed the first-in-human gene therapy using lentiviral vectors for severe haemophilia A. This innovative therapy, spearheaded by the Centre for Stem Cell Research (CSCR) at Christian Medical College (CMC), Vellore—an affiliate of BRIC-inStem and supported by the Department of Biotechnology—has showcased transformative results.
Earlier this year, the team at CMC-Vellore conducted India’s inaugural human clinical trial of gene therapy for haemophilia A (FVIII deficiency). The single-centre study, enrolling five participants aged between 22 and 41 years, demonstrated remarkable outcomes.
“The therapy successfully produced zero annualised bleeding rates in all five participants while enabling prolonged production of Factor VIII, thereby eliminating the need for repeated infusions,” the scientists reported in their paper published in the peer-reviewed New England Journal of Medicine.
Over a cumulative follow-up of 81 months, the effect of the therapy was consistent, correlating Factor VIII activity with vector copy numbers in peripheral blood. This underscores the therapy’s long-term efficacy and safety, offering renewed hope for patients with severe haemophilia A.
Haemophilia A, a severe bleeding disorder resulting from a deficiency of clotting Factor VIII, significantly impacts patients’ quality of life by causing spontaneous bleeding episodes. Although rare, India bears the world’s second-largest burden of haemophilia, with approximately 136,000 cases. Current treatments often require frequent Factor VIII replacement therapy, which faces challenges such as high costs, venous access in children, and low patient acceptance.
The new gene therapy utilizes a lentiviral vector to introduce a normal copy of the Factor VIII gene into autologous haematopoietic stem cells (HSCs). These modified HSCs then generate blood cells capable of producing functional Factor VIII over extended periods.
“Participants were monitored for six months following the gene therapy. Results showed a strong correlation between Factor VIII activity levels and the vector copy number in peripheral blood,” the researchers stated.
This pioneering study marks a significant leap forward in accessible and effective treatments for resource-limited settings, unlocking new possibilities for managing previously incurable diseases. The therapy is expected to soon undergo a second phase of human trials, paving the way for broader application and potentially improving the lives of many who suffer from this debilitating condition.
