Friedreich's Ataxia
Conditions
Keywords
Friedreich's ataxia point mutation
Brief summary
The purpose of this study is to evaluate the effects of EPI-743 in patients with Friedreich's Ataxia point mutations
Detailed description
The primary objective of this study is to investigate whether treatment with EPI-743 has a discernible impact on visual function-including visual acuity, visual fields and color vision as well as on any of a number of functional and subject/clinician-rated scales relevant in the treatment of Friedreich's ataxia, and to determine the safety of treatment with EPI-743.
Interventions
DRUGEPI-743
EPI-743 (alpha-tocotrienol quinone) is a small molecule therapeutic that was rationally designed to replete reduced glutathione through NQO1-catalyzed electron transfer from NADPH.
Sponsors
Edison Pharmaceuticals Inc
Friedreich's Ataxia Research Alliance
University of South Florida
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 65 Years
Healthy volunteers
No
Inclusion criteria
1. Diagnosis of genetically confirmed Friedreich's ataxia point mutation. 2. Visual acuity at baseline more than 15 letters on high contrast EDTRS at four meters. 3. FARS score of 20 to 90. 4. Male or female between 18 and 65 years of age. 5. Agreement to use contraception if within reproductive years 6. Hormone replacement therapy, if used, must remain stable for the duration of the study. 7. Willingness and ability to comply with study procedures. 8. Willingness and ability to arrive at study site metropolitan area day prior to evaluations. 9. 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. 10. Abstention from foods or beverages or bars fortified with Coenzyme Q10, vitamin E, super fortified functional foods or beverages at least 30 days prior to initiation of treatment and for the duration of the study. 11. Abstention from use of other investigative or non-approved drugs within 30 days of enrollment and for the duration of the study. 12. Subject can swallow multiple size 0 capsules. 13. Subject has voluntarily signed an IRB approved informed consent form to participate in the study after all relevant aspects of the study have been explained and discussed with the subject.
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. Clinically significant cardiomyopathy with ejection fraction \< 40 percent at screening. 9. Clinically significant arrhythmia within past two years requiring treatment. 10. Surgery planned through the duration of the study, including follow-up. 11. Pregnancy or breastfeeding. 12. Anticoagulant therapy within 30 days of enrollment.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Visual function | 3 months | Low contrast acuity |
| Safety parameters | 3 months | Clinical and laboratory safety parameters |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Physical function | 3 months | 25-foot walk (for subjects capable of completing the test on enrollment); |
| Health related quality of life | 3 months | Patient report via rating scale |
| Activities of Daily Living | 3 months | Patient report via rating scale |
| Visual function | 3 months | Visual fields as assessed by Humphrey 30-2 exam; High contrast visual acuity |
| Upper extremity function | 3 months | 9 hole peg test |
| Disease biomarkers | 3 months | Glutathione cycle components |
| Cardiac indices | 3 months | Echocardiogram |
| Neurologic function | 3 months | Friedreich's Ataxia Rating Scale |
Countries
United States
Outcome results
None listed