A Pilot Investigator Initiated Study to Evaluate the Safety, Tolerability and Efficacy of Elamipretide in the Treatment of Advanced Symptoms of Friedreich Ataxia (FRDA)

20-018049

To evaluate the safety, tolerability, and activity of Elamipretide in treating vision loss in Friedreich Ataxia (FRDA).

2022-03-03

2024-07-31

2024-12-31

Active (not recruiting)

Early phase I

18

Inclusion Criteria: 1. Genetically confirmed FRDA (point mutations allowed). 2. Age \>16 years. 3. Disease onset before 18 years of age. 4. If female, the subject is not pregnant or lactating or intending to become pregnant before, during, or within 30 days after the last dose of study drug. Female subjects of child-bearing potential must have a negative serum pregnancy test result at Screening, a negative urine pregnancy test result at Baseline. 5. All subjects must agree to use a reliable method of contraception throughout the study and for 30 days after the last dose of study drug. Male subjects should not father a baby during the study or for at least 30 days after the last dose of study drug. 6. All concomitant medications (including over-the-counter medications), vitamins, and supplements must be at stable doses for 30 days prior to study entry and kept stable throughout the study to the best of their ability. 7. Visual acuity (VA) worse than 20/40 (binocular) on the basis of FRDA. Must not be correctable by refraction, or subjects must have sufficient physical exam findings of optic neuropathy (funduscopic, visual fields, or retinal ganglion cell loss) to justify the primary diagnosis of FRDA related optic neuropathy Or 8. Ejection Fraction (EF) less than 50% at last evaluation (within 1 year before screening), with a history consistent with cardiomyopathy from FRDA, and VA 20/25- 20/40. Exclusion Criteria: 1. Any unstable illness that in the investigator's opinion precludes participation in the study. 2. Use of any investigational product within 30 days prior to Screening. 3. A history of substance abuse. 4. Diagnosis of active HIV or Hepatitis B or C infection. 5. Presence of severe renal disease (eGFR \<30 mL/min) or hepatic disease \[aspartate aminotransferase (AST) or alanine aminotransferase (ALT) \>2x the upper limit of normal\] as evidenced by laboratory results at Screening. 6. Clinically significant abnormal white blood cell count (ANC \<1500), hemoglobin (\< 9.0 gm/dL), or platelet count (100 K or \>500 K) as evidenced by laboratory test results at Screening. 7. Any other active cause of optic neuropathy (Vitamin B12 deficiency, Vitamin E deficiency, etc.) or cardiac disease 8. EF less than 35% at last echocardiographic evaluation 9. Uncontrolled arrhythmia 10. Current use of any systemic chronic immunosuppressive drugs 11. Current use of Metformin

{'studyType': 'INTERVENTIONAL', 'phases': ['PHASE1', 'PHASE2'], 'designInfo': {'allocation': 'RANDOMIZED', 'interventionModel': 'PARALLEL', 'primaryPurpose': 'TREATMENT', 'maskingInfo': {'masking': 'NONE'}}, 'enrollmentInfo': {'count': 18, 'type': 'ESTIMATED'}}

2023-08-14