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

• ClinicalTrials.gov Identifier: NCT01728064
• Recruitment Status: Completed
• First Posted: November 16, 2012
• Last Update Posted: August 31, 2020
• Sponsor: PTC Therapeutics
• Information provided by (Responsible Party): PTC Therapeutics

Study Description

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.

Condition or disease	Intervention/treatment	Phase
Friedreich's Ataxia	Drug: Placebo; Drug: EPI-743 400 mg; Drug: EPI-743 200 mg	Phase 2

Study Design

• Study Type: Interventional (Clinical Trial)
• Estimated Enrollment: 60 participants
• Allocation: Randomized
• Intervention Model: Parallel Assignment
• Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
• Primary Purpose: Treatment
• Official Title: Safety and Efficacy Study of EPI-743 on Visual Function in Patients With Friedreich's Ataxia
• Actual Study Start Date: December 31, 2012
• Actual Primary Completion Date: October 31, 2015
• Actual Study Completion Date: February 29, 2016

Arms and Interventions

Arm	Intervention/treatment
Placebo Comparator: Placebo; Placebo capsules three times daily	Drug: Placebo; Placebo capsules
Active Comparator: EPI-743 400 mg; EPI-743 at a dose of 400 mg three times daily	Drug: EPI-743 400 mg
Active Comparator: EPI-743 200 mg; EPI-743 at a dose of 200 mg three times daily	Drug: EPI-743 200 mg

Outcome Measures

Primary Outcome Measures :

1. Visual Function
   Low contrast visual acuity

Secondary Outcome Measures :

1. Color vision
   Roth 28 hue test
2. Neurologic function
   Friedreich's ataxia rating scale
3. Neuromuscular function
   25-foot walk test
4. Neuromuscular function
   9-hole peg test
5. Quality of life
   SF-36
6. Disease biomarkers
   Blood biomarker levels
7. Cardiac function
   Echocardiogram
8. Safety
   Number of adverse events
9. Disease improvement
   Patient Global Improvement Scale
10. Visual Function [ Time Frame: Baseline, Months 3, 6, 9 and 12 ]
    Visual field exam

Eligibility Criteria

• Ages Eligible for Study: 18 Years to 45 Years (Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

Criteria

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.

Contacts and Locations

Locations

United States, California

University of California Los Angeles

Los Angeles, California, United States, 90095

United States, Florida

University of South Florida

Tampa, Florida, United States, 33612

United States, Pennsylvania

Childrens Hospital of Philadelphia

Philadelphia, Pennsylvania, United States, 19104

Sponsors and Collaborators

PTC Therapeutics

More Information

Additional Information:

Edison Pharmaceuticals Web Site 

• Responsible Party: PTC Therapeutics
• ClinicalTrials.gov Identifier: NCT01728064
• Other Study ID Numbers: EPI2010-006
• First Posted: November 16, 2012
• Last Update Posted: August 31, 2020
• Last Verified: August 2020

Keywords provided by PTC Therapeutics:

Friedreich's; Ataxia; FRDA; FA; EPI-743; Edison

Additional relevant MeSH terms:

Ataxia; Cerebellar Ataxia; Friedreich Ataxia; Dyskinesias; Neurologic Manifestations; Nervous System Diseases; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Spinocerebellar Degenerations; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Mitochondrial Diseases; Metabolic Diseases; Ubiquinone; Micronutrients; Physiological Effects of Drugs