In News:

Indian scientists have developed a successful gene therapy treatment for severe haemophilia A, a rare inherited blood disorder causing spontaneous, potentially fatal bleeding episodes.

Key Highlights:

Trial Success:

• The trial, conducted at Christian Medical College (CMC), Vellore, involved five patients from Tamil Nadu.
• Results: None of the five patients reported bleeding episodes for over a year after receiving the treatment. The follow-up period averaged 14 months.
• This marks a significant improvement, as haemophilia patients typically experience frequent bleeding episodes requiring regular treatment.

Gene Therapy as a One-Time Solution:

• Traditional treatments involve frequent injections of clotting factors to prevent bleeding.
• The new gene therapy offers a one-time solution, teaching the body to produce enough clotting factor to prevent hemorrhages.

Haemophilia A - Overview:

• Caused by the absence of Factor VIII, a critical blood-clotting protein.
• Hemophilia A primarily affects males (since it's an X-linked disorder), though some females with two defective X chromosomes can also develop the condition.
• Symptoms include prolonged bleeding from minor injuries or internal bleeding in joints and muscles.

Current Treatment Challenges:

• Haemophilia treatments can be expensive and require lifelong care, costing up to ?2.54 crore over a 10-year period.
• The therapy requires repeated infusions of clotting factors or synthetic alternatives, which can be burdensome.

Gene Therapy Details:

• The gene therapy used in this trial involves fusing stem cells with the gene for Factor VIII using a lentivirus vector (safer than other vectors like adenovirus).
• This therapy eliminates the need for repeated Factor VIII infusions, providing a more cost-effective and sustainable solution.

Global Context:

• India has one of the world’s largest haemophilia populations, with an estimated 40,000 to 100,000 patients.
• The success of this gene therapy in India could lead to localized production, reducing treatment costs and increasing accessibility to gene therapy in resource-constrained settings.

Comparison with Roctavian:

• Roctavian, the only FDA-approved gene therapy for haemophilia A, also uses gene delivery to produce Factor VIII, but requires immunosuppressive therapy and is not approved for children.
• In contrast, the Vellore trial's lentivirus-based approach is considered safer, especially for children, with the potential for broader application.