Pompe disease is an inherited lysosomal glycogen storage disorder caused by acid alpha-glucosidase deficiency, leading to glycogen accumulation in muscle and multisystem impairment.
India is expanding rare disease support under the 2021 policy, with aid up to Rs 50 lakh and 15 Centres of Excellence. Officials also called for local innovation as treatment costs can reach ₹16 crore.
India's rare disease treatment funding fell to Rs 32.73 crore in 2025-26 from Rs 82.87 crore a year earlier, while several Centres of Excellence reported unspent balances. In Madhya Pradesh, concerns were also raised over the absence of dedicated rare disease centres in most state-run medical colleges.
Over 100 children with rare diseases in India have exhausted the Rs 50 lakh financial assistance limit under the National Policy for Rare Diseases 2021, forcing treatment halts and prompting urgent appeals for continued support.
| NCT ID | Title | Status | Phase |
|---|---|---|---|
| NCT07123155 |
Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD) |
RECRUITING | PHASE2 |
| NCT00231400 |
Pompe Disease Registry Protocol |
RECRUITING |
