India has made a major breakthrough in the treatment of severe hemophilia A through gene therapy. In a groundbreaking study conducted by the Center for Stem Cell Research (CSCR) at the Christian Medical College (CMC), Vellore, five patients who received the therapy experienced zero bleeding episodes over an extended period.

This is India’s first human gene therapy for hemophilia A. The findings were published in the peer-reviewed New England Journal of Medicine.

The study, supported by the Department of Biotechnology, used a lentiviral vector to deliver a functional gene into patients’ blood stem cells.

The therapy enabled participants to produce Factor VIII, a protein important for blood clotting, without the need for repeated injections. These results are an important step toward developing treatments for rare diseases, especially in low-resource settings.

Understanding Hemophilia A

Hemophilia A is a rare genetic disorder caused by a deficiency of a blood clotting protein called Factor VIII. This condition causes uncontrolled bleeding, which can occur even without injury, and poses serious challenges to patients’ quality of life.

India ranks second in hemophilia cases globally, with around 1.36 lakh people affected.

Currently, patients manage severe hemophilia A through regular intake of Factor VIII or other clotting products. However, these treatments are expensive, difficult to administer in children, and require frequent hospital visits, making them inaccessible to many.

A new approach with gene therapy

Gene therapy offers a potential solution by addressing the root cause of hemophilia. CSCR scientists developed a method to restore Factor VIII production using a lentiviral vector, a safe and effective alternative to commonly used AAV vectors.

Lentiviral vector is a tool used in gene therapy to deliver genetic material into cells. It is derived from lentivirus, which is a type of retrovirus. Lentiviruses such as HIV have the natural ability to insert their genetic material into the DNA of host cells.

Scientists have modified these viruses to remove harmful parts, making them safe and effective for therapeutic use.

In the study, patients’ blood stem cells were modified to include the gene responsible for producing Factor VIII. These modified cells were then transplanted into the patients, enabling their bodies to naturally produce clotting proteins.

promising results

The participants were monitored for six months after receiving the treatment. During a cumulative follow-up of 81 months, no bleeding events were observed in all five patients.

Factor VIII production remained constant, eliminating the need for regular infusions.

This breakthrough paves the way for transformative treatments for genetic diseases in India, giving hope to thousands of families struggling with the high cost and limited access of current treatments.