India’s first-ever human gene therapy trial for Haemophilia A was successfully conducted through a collaboration between the Biotechnology Research and Innovation Council’s Institute for Stem Cell Science and Regenerative Medicine (BRIC-inStem) and Christian Medical College (CMC) Vellore.
This landmark trial aims to provide a long-term cure for Hemophilia A patients by genetically modifying stem cells to produce functional clotting factor VIII.
What is Haemophilia?
Definition: A genetic blood disorder where blood doesn’t clot normally, leading to abnormal bleeding.
Cause: Deficiency of clotting factors i.e. Fcator VIII or Fcator IX proteins due to mutations in genes located on the X chromosome. (Primarily affects males.)
Common Types:
- Hemophilia A (Classic Hemophilia): Lack of Factor VIII.
- Hemophilia B (Christmas Disease): Lack of Factor IX.
Impact:
- Bleeding within joints causing chronic joint damage and pain.
- Internal bleeding in vital organs like the brain, leading to seizures, paralysis, or death if untreated.
Treatment Methods:
- Preventive Treatment: Regular infusion of clotting factors to prevent bleeding.
- On-demand Treatment: Administering clotting factors during bleeding episodes.
Challenges in Treatment:
- High cost, difficult venous access in children, and low patient acceptance.
India and Haemophilia Burden
- Hemophilia is a rare disorder but India has the world’s second-largest burden of Hemophilia.
- Estimated caseload: 1.36 lakh (136,000) patients.
Gene Therapy for Haemophilia
Objective: Provide long-term production of clotting factor VIII and reduce dependency on frequent infusions.
Methodology:
- Autologous Hematopoietic Stem Cells (HSCs) collected from patients.
- Genetically modified using lentiviral vectors to insert the correct Factor VIII gene.
- Modified HSCs regenerate blood cells capable of producing functional Factor VIII continuously.
What is Gene Therapy?
Definition: A technique to treat, prevent, or cure diseases by:
- Replacing faulty genes
- Deactivating harmful genes
- Introducing new functional genes
Types of Gene Therapy:
Somatic Cell Gene Therapy:
- Targets non-reproductive cells.
- Changes are not inherited by future generations.
Germline Gene Therapy:
- Targets reproductive cells (sperm/egg).
- Heritable changes, but currently banned in most countries including India due to ethical concerns.
About BRIC-inStem and India’s Biotechnology Sector:
Biotechnology Research and Innovation Council (BRIC):
- Unified 14 autonomous institutes under one umbrella.
- Strengthens India’s biotech research and innovation ecosystem.
BRIC-inStem’s Biosafety Level III Laboratory:
- National facility under One Health Mission.
- Studies high-risk pathogens safely.
Centre for Research Application and Training in Embryology (CReATE):
- Focuses on birth defects and infertility.
- Important for improving maternal and neonatal health outcomes in India
India’s Biotechnology Sector – Key Highlights:
Growth:
- Expanded 16-fold in the last decade.
- Valued at $165.7 billion in 2024.
- Target: $300 billion by 2030.
BIO-E3 Policy:Recently approved to boost Economy, Employment, and Environment through biotechnology development.