Huntington's patients seek rare disease tag & registry

There is no registry for Huntington's disease, a rare neurodegenerative hereditary disorder, because it is not listed as a rare disease. And without a registry to officially quantify how many suffer from it, patients and their families are struggling to get it included as a rare disease.

Caught in this chicken-and-egg situation, the Huntington Disease Society, India - formed by families of persons suffering from the disease, doctors and researchers - gathered in the Institute of Genomics and Integrative Biology to discuss advances in treatment options and ways of making them accessible to patients in India.

Unlike most rare diseases included in the official list which are paediatric diseases, the symptoms of Huntington's disease, caused by a genetic mutation inherited from a parent, typically appear between 30-50 years of age and the symptoms progressively worsen over 15-20 years. The National Policy for Rare Diseases (NPRD), 2021, was updated in Aug 2024 when the list of diseases listed under it was expanded from 55-63 with diseases such as Laron syndrome and Glanzmann Thrombasthenia being added.

This has made the Huntington Disease Society hopeful.

"Recognising Huntington's Disease under NPRD and ensuring PMJAY coverage will reduce catastrophic out-of-pocket expenditure and provide long overdue policy visibility," stated the society's letter to the Union health minister pointing out that the disease imposed lifelong multidimensional burden on affected individuals and families.

"At least if the condition gets added, the ICMR can start a registry. NIMHANS has treated more than 500 patients in more than a decade. AIIMS must have treated a similar number. But without a registry, the patients remain invisible to the system. Such a registry will also help in research into the disease and its treatment modalities. We also need regional centres of excellence so that it becomes easier for patients to seek treatment," said Venkateshwara Rao Koushik, chairman of the society, whose wife is afflicted.

Dr Mohammed Faruq, senior principal scientist at IGIB, held out hope for treatment to be developed through consistent research into gene therapy, which has shown promise.