Friedreich's Ataxia (FRDA)
Friedreich's ataxia (FRDA) is a rare, inherited neurodegenerative disorder that causes progressive damage to the nervous system. With early diagnosis and management, individuals with FA can improve quality of life, though the condition typically leads to progressive disability and a shortened life expectancy.
Cause: Caused by mutations in the FXN gene, leading to a deficiency in frataxin, a protein involved in mitochondrial function. It is inherited in an autosomal recessive pattern.
Features: Ataxia (loss of coordination and balance), particularly in the legs and trunk, muscle weakness, vision and hearing problems, speech difficulties, and scoliosis (curvature of the spine), heart problems, including cardiomyopathy, are common and can be life-threatening, diabetes may also occur in some individuals.
Diagnosis: Confirmed through genetic testing for mutations in the FXN gene.
Treatment: No cure, but treatment focuses on symptom management, including physical therapy, speech therapy, and medications for associated conditions.
Active Trials
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TITLE: An Open-Label Extension Study to Assess the Long-Term Safety, Efficacy, Pharmacodynamics, Pharmacokinetics, and Tolerability of Subcutaneous CTI-1601 in Subjects With Friedreich’s Ataxia
SPONSOR: Larimar Therapeutics, Inc.
INDICATION: Friedreich's ataxia (FA)
PROTOCOL: CLIN-1601-201 (JIVE)
PHASE: 2
DESCRIPTION: Patients with FRDA have a deficiency of FXN, a protein that is essential for mitochondrial metabolism. CTI-1601, intended to be a mitochondrial FXN replacement therapy, utilizes a cell-penetrant peptide fused to human FXN in order to deliver FXN to the mitochondria where it is presumed to be processed to mature FXN and subsequently becomes active in mitochondrial metabolism. The specific rationale for this open-label extension (OLE) study is to collect long-term safety, tolerability, PK, pharmacodynamics (PD), and efficacy data while allowing subjects who participated in a prior study to continue receiving CTI-1601. This study will also allow those subjects who participated in a prior study and received placebo to initiate treatment with CTI-1601.
STATUS: Upcoming
RECRUITING PATIENTS: Not yet recruiting
RDR LOCATION: North Carolina