DBT, CSCR develop 1st human gene therapy for Haemophilia A in India

Offering hope to around 136,000 Haemophilia A patients in India, the Department of Biotechnology (DBT), along with the Centre for Stem Cell Research (CSCR) at Christian Medical College (CMC), Vellore, announced that they have successfully executed a first-in-human gene therapy using lentiviral vectors for the disease.

 

Haemophilia is a severe bleeding disorder caused by the deficiency of clotting Factor VIII, leading to spontaneous internal and external bleeding episodes.

 

Although rare, India bears the world’s second-largest burden of haemophilia. Current treatments require frequent Factor VIII replacement therapy, which faces challenges such as high costs, intravenous (IV) access in children, and low patient acceptance.

 

The single-centre study, which enrolled five participants aged between 22 and 41 years, showed transformational results, according to scientists involved in the research.

 

“The therapy successfully produced zero annualised bleeding rates in all five enrolled participants while enabling prolonged production of Factor VIII, eliminating the need for repeated infusions,” said the scientists in a paper published in the peer-reviewed New England Journal of Medicine.

 

The team added that this effect was seen in all participants, who were monitored for six months following the gene therapy.

 

This study assumes significance as patients with moderate to severe Haemophilia A can face 12 to 40 bleeding incidents every year.

 

The gene therapy approach developed by CSCR involves the use of a lentiviral vector to introduce a normal copy of the Factor VIII gene into autologous haematopoietic stem cells (HSCs).

 

Lentiviral vectors are a type of viral vector that can be used to transfer genetic material into cells for gene therapy.

 

“These modified HSCs generate blood cells capable of producing functional Factor VIII over extended periods, thus obviating the need for repeated infusions,” the scientists added.