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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01728064
Recruitment Status : Completed
First Posted : November 16, 2012
Last Update Posted : August 31, 2020
Information provided by (Responsible Party):
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.

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

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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

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

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

  6. Disease biomarkers
    Blood biomarker levels

  7. Cardiac function

  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

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 45 Years   (Adult)
Sexes Eligible for Study:   All
Accepts 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01728064

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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
Additional Information:
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Responsible Party: PTC Therapeutics
ClinicalTrials.gov Identifier: NCT01728064    
Other Study ID Numbers: EPI2010-006
First Posted: November 16, 2012    Key Record Dates
Last Update Posted: August 31, 2020
Last Verified: August 2020
Keywords provided by PTC Therapeutics:
Additional relevant MeSH terms:
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Cerebellar Ataxia
Friedreich Ataxia
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
Physiological Effects of Drugs