In a major medical breakthrough, India has successfully completed its first human gene therapy for severe hemophilia-A using a lentiviral vector, resulting in zero bleeding rates in patients. Hemophilia, a serious bleeding disorder caused by a deficiency of clotting factors VIII and IX leads to spontaneous bleeding, joint damage, and decreased quality of life. The gene therapy showed promising results in a phase-one trial involving five patients aged 22 to 41, with an annual bleeding rate of zero across a cumulative follow-up period of 81 months. This pioneering gene therapy for hemophilia-A was developed by the Centre for Stem Cell Research (CSCR) at CMC Vellore and supported by the Department of Biotechnology.
The study’s results were published in the New England Journal of Medicine. Τhe therapy led to excellent results in median factor-VIII levels over a two-year treatment and follow-up period and the results of this clinical study reveal a new opportunity for gene therapy to all haemophilia-A patients. Hemophilia is rare, and India has the second-largest global burden with 136,000 cases. Hemophilia-A, the most common type, accounts for 80-85% of cases. Currently, factor VIII replacement therapy is the primary treatment, but it is limited, costly, and requires frequent administration. Hemophilia-A affects about 1 in every 5,000 births.
Gene therapy, unlike traditional treatments that require ongoing clotting factor injections, offers a potential one-time solution by enabling the body to autonomously produce factor VIII. The therapy involves extracting stem cells from the patient’s blood, correcting the gene, and transplating the cells using a lentiviral vector. This allows the body to produce the necessary clotting factor, reducing the need for continuous treatments.
This therapy has proven highly effective in the first phase of the trial, significantly reducing the frequency and severity of bleeding episodes and potentially enhancing the patients’ quality of life. Successful gene therapy may eliminate the need for clotting factor concentrates or plasma products, which are often costly and in short supply and this advancement could lead to more genetic therapies for other rare diseases in the future.