Also known as: Friedreich ataxia, Friedreich Ataxia
Friedreich's ataxia is a genetic neurodegenerative disorder that affects the nervous system and progressively impairs coordination, gait, and motor function. It is commonly associated with cardiomyopathy and may also involve diabetes and scoliosis. Symptoms usually begin in childhood or adolescence and worsen over time.
India convened a national conference on rare diseases, Irish lawmakers debated Skyclarys access, and Malta unveiled its first rare disease strategy. New measures include expanded Centres of Excellence, ₹50 lakh assistance, and givinostat reimbursement.
Quantitative and functional MRI techniques are gaining traction as biomarkers in neurodegenerative diseases. A consensus statement provides MRI endpoint recommendations for clinical trials in hereditary ataxias like SCA and Friedreich ataxia. Separately, research shows resting-state fMRI can distinguish subtypes of multiple system atrophy and may improve early diagnosis.
Phase 1 data in 17 adults with Friedreich's ataxia cardiomyopathy showed AAVrh.10hFXN (LX2006) was generally well tolerated and showed signs of biological activity. The gene therapy is being advanced into a larger trial.
Solid Biosciences has secured FDA alignment on a registration pathway for its Duchenne muscular dystrophy gene therapy SGT-003, with 36 patients dosed to date showing no drug-induced liver injury, myocarditis, or other serious adverse events reported with competing therapies.
The FDA has denied or discouraged at least eight drug applications in the past year, including treatments for rare diseases, raising concerns about regulatory consistency and the future of experimental therapies.
PTC Therapeutics has withdrawn its New Drug Application resubmission for ataluren (Translarna) for nonsense mutation Duchenne muscular dystrophy after the FDA indicated the submission lacked substantial evidence of effectiveness.
PTC Therapeutics has withdrawn its New Drug Application for Translarna (ataluren) for Duchenne muscular dystrophy after the FDA indicated the data were unlikely to meet approval thresholds, ending a pursuit spanning more than a decade.
| NCT ID | Title | Status | Phase |
|---|---|---|---|
| NCT07778836 |
A Study to Evaluate the Efficacy and Safety of Subcutaneous Nomlabofusp in Subjects With Friedreich's Ataxia |
RECRUITING | PHASE3 |
| NCT07681713 |
Long-Term Efficacy Study of Vatiquinone for the Treatment of Friedreich's Ataxia (FA) |
NOT_YET_RECRUITING | PHASE3 |
| NCT07635030 |
GABA and GSH in FRDA |
ENROLLING_BY_INVITATION | |
| NCT07444333 |
Cardiac Output and Fatigue in Friedreich's Ataxia |
NOT_YET_RECRUITING | NA |
| NCT07095062 |
Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome. |
RECRUITING | NA |
| NCT04102501 |
A Study to Assess Efficacy, Long Term Safety and Tolerability of RT001 in Subjects With Friedreich's Ataxia |
COMPLETED | PHASE3 |
| NCT02840669 |
A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study) |
COMPLETED | NA |
| NCT02797080 |
Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia |
COMPLETED | PHASE3 |
| NCT02660112 |
(+) Epicatechin to Treat Friedreich's Ataxia |
COMPLETED | PHASE2 |
| NCT02593773 |
Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Study |
COMPLETED | PHASE3 |
