Petition sent to Union Health Minister seeking sustainable treatment support for Gaucher Disease

Lysosomal Storage Disorders Society of India seeks sustainable treatment support for Gaucher Disease patients from Health Minister.

The Lysosomal Storage Disorders Society of India, a patient advocacy group, has written to Union Health Minister J.P. Nadda, seeking sustainable treatment support for patients with Gaucher Disease.

Gaucher disease is a rare genetic disorder, one of the lysosomal storage disorders. Lysosomal Storage Disorders are categorised under Group 3 (a) in the National Policy for Rare Diseases 2021. Patients with Gaucher disease have low levels of an enzyme that breaks down lipids (fatty substances). This results in these lipids building up in organs such as the spleen and liver, and causing a host of symptoms. October is observed as Gaucher month.

In its petition, signed by national president Manjit Singh, the Society expressed their gratitude to the government for its support to those with rare diseases. It pointed out that the Health Ministry has, to date, allocated ₹143.19 crore for the treatment of rare disease patients, and it was recently announced that this allocation would be increased to ₹974 crore.

In India, the treatment of Gaucher disease through Enzyme Replacement Therapy (ERT) began 25 years ago. Thanks to early diagnosis and timely treatment, a substantial number of Gaucher patients in India are now leading normal lives, the petition said.

However despite favourable progress, a brief analysis of Gaucher patients predominantly aged between age groups of 5 - 15 years, undergoing or awaiting treatment across 12 Centres of Excellence (CoEs) revealed significant challenges, the petition said. Of the 506 LSD patients listed on the national crowdfunding portal, 242 are Gaucher. Among this group, 68 patients are currently receiving treatment, while 128 patients are still on the waitlist. Additionally, 21 patients have exhausted their one-time aid of ₹50 lakh, and are waiting for a sustainable funding mechanism in place to ensure the continuation of life-saving ERT and so, only 25% of the eligible Gaucher patients are currently receiving treatment.

Requesting that this issue be addressed as a top priority, the Society made a few recommendations. These included:

Consideration of these measures would contribute to building a more progressive and sustainable rare disease treatment ecosystem, the petition noted.