Friedreich's Ataxia
Conditions
Keywords
Friedreich's, Ataxia, FRDA, FA, EPI-743, Edison
Brief summary
The purpose of this study is to examine the effects of EPI-743 on visual function and neurologic function in patients with Friedreich's ataxia.
Interventions
DRUGPlacebo
Placebo capsules
DRUGEPI-743 400 mg
DRUGEPI-743 200 mg
Sponsors
PTC Therapeutics
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
QUADRUPLE (Subject, Caregiver, Investigator, Outcomes Assessor)
Eligibility
Sex/Gender
ALL
Age
18 Years to 45 Years
Healthy volunteers
No
Inclusion criteria
1. Diagnosis of genetically confirmed Friedreich's ataxia 2. Visual acuity at baseline more than 15 letters on EDTRS at four meters 3. FARS score of 20 to 90 4. Agreement to use contraception if within reproductive years (see specifics in section D1, page 21) 5. Hormone replacement therapy, if used, must remain stable for the duration of the study 6. Willingness and ability to comply with study procedures 7. Willingness and ability to arrive at study site day prior to evaluations 8. Abstention from use of dietary supplements and non-prescribed medications at least 30 days prior to initiation of treatment and for the duration of the study. This would specifically include idebenone, Coenzyme Q10 and vitamin E 9. Abstention from use of other investigative or non-approved drugs within 30 days of enrollment and for the duration of the study
Exclusion criteria
1. Allergy to EPI-743 or sesame oil or nuts 2. Clinically significant bleeding condition or abnormal PT/PTT INR (INR \> two; PTT \> two-times normal) 3. Liver insufficiency with LFTs greater than three-times upper normal limit at screening 4. Renal insufficiency with creatinine \> 1.5 at screening 5. Fat malabsorption syndromes 6. Any other respiratory chain diseases of the mitochondria or inborn errors of metabolism 7. Any other ophthalmologic conditions 8. History of alcohol or drug abuse 9. Clinically significant cardiomyopathy with ejection fraction \< 40 percent at screening 10. Clinically significant arrhythmia within past two years requiring treatment 11. Anticoagulant therapy within 30 days of enrollment.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Visual Function | — | Low contrast visual acuity |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Neurologic function | — | Friedreich's ataxia rating scale |
| Neuromuscular function | — | 25-foot walk test |
| Quality of life | — | SF-36 |
| Disease biomarkers | — | Blood biomarker levels |
| Color vision | — | Roth 28 hue test |
| Safety | — | Number of adverse events |
| Disease improvement | — | Patient Global Improvement Scale |
| Visual Function | Baseline, Months 3, 6, 9 and 12 | Visual field exam |
| Cardiac function | — | Echocardiogram |
Countries
United States
Outcome results
None listed