Experts seek inclusion of Huntington's in national policy for rare diseases

Delhi: Experts urged the government to include Huntington's disease, an inherited neurodegenerative condition, under the National Policy for Rare Diseases to ensure access to high-cost, disease-modifying therapies for patients.

Huntington's disease, a rare, genetic disorder, causes nerve cells in the brain to decay over time, affecting one's movements, thought processes and mental well-being. Symptoms are said to begin in the 30s and 40s.

The Huntington Disease Society of India, Bengaluru, in collaboration with the National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, conducted the 'Huntington's Disease Awareness and Meeting' at the Mathura Road campus of the Council of Scientific and Industrial Research (CSIR)-Institute of Genomics and Integrative Biology (IGIB). 

Dr Sanjeev Jain, emeritus senior professor psychiatry at NIMHANS, told PTI, ''The disease is rare in that it affects five in one lakh people of European or Eurasian origin, which means that about one lakh in India could be affected.'' ''But because it is inherited, their siblings and children may also get affected. So, you can add about another three to five lakh people at risk because they are genetically related,'' he said.

Chairman of the Huntington Disease Society of India, Dr Venkateswara Rao Koushik, shared a dossier with PTI, which included a letter addressed to the Ministry of Health & Family Welfare dated December 26, 2025. It states, ''The Huntington Disease Society of India (HDSI), representing families, caregivers, clinicians, and researchers across the country, respectfully submits this dossier requesting the formal inclusion of Huntington's Disease (HD) under the National Policy for Rare Diseases (NPRD 2021) and presenting the evidence and justification for this request.''

''Based on clinical, genetic, epidemiological, and socioeconomic evidence from India, we respectfully request the inclusion of Huntington's Disease under NPRD Group 2 and/or Group 3B, consistent with established precedent for dual-classification and reflecting both the current reliance on lifelong multidisciplinary care and the emergence of high-cost disease-modifying therapies,'' the letter reads. Dr Koushik said, ''The condition is already recognised as a rare disease outside India, but not here.

So, if I approach officials for support, they won't show interest as officially they can't provide it.'' A volunteer and member of the HDSI, Amrit Bhasin, who lost her mother to the disease, said she (her mother) experienced initial symptoms in the form of tingling of toes, then went on to lose her cognitive abilities and coordination with her body and developed depression towards the end. Dr. Archana Seahwag, International Health and Tropical Medicine, World Health Organization, said, ''We need to have a national level patient registry as it will make all the 'invisible' patients visible to the ministry and all the systemic action, including funding.

''There is currently no cure for Huntington's disease, even as researchers around the world are working on developing therapies for symptoms that can include psychiatric ones such as depression, delusions, obsessions and compulsions. In September 2025, results from phase 1 and 2 clinical trials of a gene therapy for Huntington's disease showed that it could slow down progression by 75 per cent, the first of its kind evidence.

Administered once through a surgery in the brain, the gene therapy 'AMT-130' is developed by the Netherlands-based biotechnology company 'uniQure', ''specifically tailored to silence the huntingtin gene'' and arrest the production of a mutant protein 'mHTT' responsible for the neurodegenerative condition. Acknowledging it as a ''major development'' in the field, Jain said it would need to be adapted for patients in India. ''After all, it (gene therapy) is a technology and if we have scientists and clinicians collaborating, there's no reason why it cannot be adapted for use in India,'' Jain said.