Fabry disease is a rare X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity, resulting in progressive glycosphingolipid accumulation across multiple organs. It can present with neuropathic pain, angiokeratomas, hypohidrosis, renal dysfunction, cardiac disease, and cerebrovascular complications. Disease progression is multisystemic and often severe without treatment.
uniQure disclosed the FDA will not accept Phase I/II data alone for AMT-130 approval, causing shares to drop 49%. The company held regulatory meetings and reported $622.5 million in cash while investors face an April 13 class action deadline.
Relay Therapeutics reported full-year 2025 revenue of $15.36 million and a narrowed net loss of $276.48 million, while securing FDA Breakthrough Therapy designation for lead asset zovegalisib. The company filed a $96.18 million shelf registration.
uniQure received FDA feedback stating current AMT-130 data unlikely to support accelerated approval for Huntington's disease, while securities fraud lawsuits challenge prior disclosures. Fresh Fabry disease trial data showed elevated enzyme activity but prompted a dosing pause for safety review.
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 |
|---|---|---|---|
| NCT07575347 |
Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE) |
NOT_YET_RECRUITING | |
| NCT07560956 |
Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF) |
NOT_YET_RECRUITING | |
| NCT07506083 |
Natural History in Fabry Disease With IVS4+919G>A Mutations |
ACTIVE_NOT_RECRUITING | |
| NCT07495410 |
Anderson-Fabry Disease Fitness Improvement Training: A-FAD-FIT |
ENROLLING_BY_INVITATION | NA |
| NCT07485660 |
Care Pathway for Patients With Fabry's Disease (Fabry-PATH) |
NOT_YET_RECRUITING | |
| NCT07351136 |
Novel Diagnostic and Prognostic Predictors in Fabry Cardiomyopathy: Proof of Concept in a Rare Disease |
NOT_YET_RECRUITING | |
| NCT07336394 |
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques |
RECRUITING | |
| NCT07277361 |
Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment |
RECRUITING | |
| NCT07235709 |
Effect of Agalsidase Alfa on Cardiac Inflammation in Patients With Fabry Disease: A [18F]-FDG PET-CMR Study |
RECRUITING | |
| NCT07187440 |
A Study of Agalsidase Alfa Enyzme Replacement Therapy in Chinese Children and Adults With Fabry Disease |
RECRUITING |
