Gaucher disease is an inherited lysosomal storage disorder caused by deficient glucocerebrosidase activity, leading to accumulation of fatty substances in macrophages and multisystem manifestations.
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 |
|---|---|---|---|
| NCT05487599 |
A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED) |
RECRUITING | PHASE1/PHASE2 |
| NCT04388969 |
World Data on Ambroxol for Patients With GD and GBA Related PD |
RECRUITING | |
| NCT03291223 |
Gaucher Disease Outcome Survey (GOS) |
RECRUITING | |
| NCT00302146 |
Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations |
COMPLETED | |
| NCT00001215 |
Genetic Studies of Lysosomal Storage Disorders |
ENROLLING_BY_INVITATION |
