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.
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.
PTC Therapeutics has withdrawn its New Drug Application resubmission for ataluren (Translarna) for nonsense mutation Duchenne muscular dystrophy after the FDA indicated the submission lacked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PTC Therapeutics has withdrawn its New Drug Application for Translarna (ataluren) for Duchenne muscular dystrophy after the FDA indicated the data were unlikely to meet approval thresholds,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 |
|---|---|---|---|
| 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 |
| NCT02497534 |
Biomarkers in Friedreich's Ataxia |
RECRUITING | |
| NCT02445794 |
A First in Human Study of RT001 in Patients With Friedreich's Ataxia |
COMPLETED | PHASE1/PHASE2 |
| NCT02415127 |
Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia |
COMPLETED | PHASE3 |
