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.
Gene therapies for Fabry and Gaucher disease showed sustained benefits in early trials: all 11 Fabry patients stopped enzyme replacement therapy, and four of six Gaucher patients stayed off standard treatment for up to two years.
FDA granted priority review to Sanofi's venglustat for type 3 Gaucher disease (action date Nov 25, 2026). Phase 3 LEAP2MONO data showed venglustat met both primary endpoints and three of four key secondary endpoints.
Sangamo Therapeutics has retained Raymond James to evaluate strategic alternatives to advance its pipeline and maximize stakeholder value. Key assets include the BLA-ready Fabry disease gene therapy ST-920, the STAC-BBB capsid platform generating $88M in fees to date, and multiple neurology programs. No transaction has been agreed and no timetable has been set.
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.
Myriad Genetics, uniQure, and Legend Biotech have scheduled Q4 and full year 2025 earnings calls for Feb 23, Mar 2, and Mar 10, 2026, respectively. Details include webcast access, dial-in numbers, and company background.
| NCT ID | Title | Status | Phase |
|---|---|---|---|
| NCT07778667 |
A Study to Learn How Well Lucerastat Works and How Safe it is in Untreated Adult Male Participants With Fabry Disease |
NOT_YET_RECRUITING | PHASE3 |
| NCT07762638 |
Post Trial Access to Lucerastat for Patients With Fabry Disease Who Participated in Study ID-069A302 |
AVAILABLE | |
| NCT07575347 |
Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE) |
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 |
