India has successfully developed its first human gene therapy, which employs a lentiviral vector to treat severe haemophilia-A, an unprecedented medical milestone with zero bleeding rates in the treated patients. This new innovation provides an unprecedented remedy for haemophilia patients who experience frequent, life-threatening episodes of bleeding due to deficiencies in clotting factors VIII and IX.

Key Highlights
Clinical trial success:

• Phase I clinical trials were conducted by the Centre for Stem Cell Research, CMC Vellore, on five patients aged 22 to 41 years.

• The annualized bleeding rate for all participants was zero over a cumulative follow-up of 81 months.

Method:

• The therapy involves taking stem cells from a patient's blood and altering them with a lentiviral vector. This will allow the transplanted stem cells into the patient to produce the factor VIII.

• Unlike conventional treatments requiring regular clotting factor infusions, gene therapy offers a potentially lifelong solution by enabling the body to autonomously produce factor VIII.

Prosperous Outcomes:

• More than 20 bleeding events were experienced yearly by patients before the treatment. Since therapy, no episode of spontaneous bleeding has occurred.

• Median factor VIII levels had significantly improved over nearly two years of follow-up.

Global Impact:

• India has the second-largest burden of haemophilia globally, with 1.36 lakh cases.

• This innovation would significantly reduce the dependence on expensive factor VIII concentrates or plasma products and, therefore, make treatment affordable and accessible.

• Physicians believe this gene therapy could be a game changer in haematology treatments worldwide.

Affordable and Accessible:

• Compared to conventional treatments, this indigenously developed therapy promises affordability, potentially making advanced genetic treatments more accessible to Indian patients.

Experts Opinion:

• Dr Alok Srivastava, Haematology Research Unit, St John's Research Institute:

"Gene therapy for haemophilia-A has shown quite promising results. It enables an early treatment of the patients resulting in a much better quality of life with reduced probabilities of joint damages."

• Dr. Rabindra Kumar Jena, Bone Marrow Transplant Physician, SCB Medical College:

"This revolutionary treatment can potentially dispense with the need for the frequent clotting factor infusions, significantly reducing spontaneous bleeding events and treatment costs."

• Dr. Rajeeb Swain, Senior Scientist, Institute of Life Sciences, Bhubaneswar

"This discovery could possibly lead to more advanced treatments of other rare diseases globally."What This Means for Patients:

• The therapy can transform lives by drastically reducing bleeding episodes, thus offering a lifelong solution for haemophilia-A patients.

• It will likely be cheaper than the current treatments and thus available to patients all over India with indigenous development.