India Achieves Breakthrough In Hemophilia A Treatment

India has made a significant advancement in the treatment of severe Hemophilia A through a pioneering gene therapy developed by the Centre for Stem Cell Research (CSCR) at Christian Medical College (CMC), Vellore. In a groundbreaking clinical study, five patients who underwent the therapy experienced no bleeding episodes over an extended period, marking a milestone in the management of this rare genetic disorder.

This development represents India's first human gene therapy for Hemophilia A. The findings of the study have been published in the prestigious New England Journal of Medicine.

The research, supported by the Department of Biotechnology, employed a lentiviral vector to deliver a functional gene into the patients’ blood stem cells. This innovative approach enabled the participants to produce Factor VIII—a crucial protein for blood clotting—eliminating the need for repeated infusions.

Understanding Hemophilia A

Hemophilia A is a rare genetic condition caused by a deficiency of Factor VIII, leading to uncontrolled bleeding even in the absence of injury. The disorder significantly impacts the quality of life of those affected.

India ranks second globally in the prevalence of Hemophilia, with an estimated 1.36 lakh individuals affected. Current treatments for severe Hemophilia A rely on regular infusions of Factor VIII or other clotting products. However, these treatments are expensive, challenging to administer, particularly in children, and require frequent hospital visits, making them inaccessible to many patients in resource-limited settings.

Gene Therapy: A Game-Changing Approach

The gene therapy developed by CSCR offers a potential solution to the challenges posed by conventional treatments. The researchers used a lentiviral vector, a tool derived from retroviruses like HIV, to deliver the gene responsible for Factor VIII production into the patients’ blood stem cells. The harmful components of the virus were removed, ensuring its safety and effectiveness for therapeutic use.

The modified stem cells were transplanted back into the patients, enabling their bodies to naturally produce the clotting protein.

Promising Outcomes

The study monitored participants for six months post-treatment, with a cumulative follow-up of 81 months. During this period, all five patients remained free from bleeding episodes, and their Factor VIII production levels remained stable, eliminating the need for routine infusions.

This groundbreaking success highlights the potential of gene therapy to transform treatment for genetic disorders in India, particularly for rare diseases like Hemophilia A. It also offers renewed hope to families grappling with the prohibitive costs and limited accessibility of traditional therapies.