Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia

Phase 2

Completed

• Conditions: Friedreich's Ataxia
• Interventions: Drug: EPI-743 200 mg; Drug: EPI-743 400 mg; Drug: Placebo

• Registration Number: NCT01728064
• Lead Sponsor: PTC Therapeutics

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2012-11-13
• Study First Submitted QC: 2012-11-13
• Study First Posted: 2012-11-16
• Study Start: 2012-12-31
• Primary Completion: 2015-10-31
• Study Completion: 2016-02-29
• Status Verified: 2020-08
• Disposition First Submitted: 2020-08-17
• Disposition First Submitted QC: 2020-08-24
• Last Update Submitted: 2020-08-24
• Disposition First Posted: 2020-08-31
• Last Update Posted: 2020-08-31

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 60

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
EPI-743 200 mg	EPI-743 200 mg	EPI-743 at a dose of 200 mg three times daily
EPI-743 400 mg	EPI-743 400 mg	EPI-743 at a dose of 400 mg three times daily
Placebo	Placebo	Placebo capsules three times daily

Primary Outcome Measures

Name	Time	Method
Visual Function		Low contrast visual acuity

Secondary Outcome Measures

Name	Time	Method
Disease biomarkers		Blood biomarker levels
Cardiac function		Echocardiogram
Disease improvement		Patient Global Improvement Scale
Quality of life		SF-36
Color vision		Roth 28 hue test
Neurologic function		Friedreich's ataxia rating scale
Neuromuscular function		9-hole peg test
Safety		Number of adverse events
Visual Function	Baseline, Months 3, 6, 9 and 12	Visual field exam

Trial Locations

Locations (3)

University of California Los Angeles; 🇺🇸 Los Angeles, California, United States

Childrens Hospital of Philadelphia; 🇺🇸 Philadelphia, Pennsylvania, United States

University of South Florida; 🇺🇸 Tampa, Florida, United States