CompletedPhase 1/2

FRDA Investigator Initiated Study (IIS) With Elamipretide

United States20 participantsStarted 2022-03-03

Plain-language summary

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

Age range16 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

✓. Genetically confirmed FRDA (point mutations allowed).
✓. Age \>16 years.
✓. Disease onset before 18 years of age.
✓. 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.
✓. 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.
✓. 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.
✓. 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
✓. 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.

✕. Any unstable illness that in the investigator's opinion precludes participation in the study.
✕. Use of any investigational product within 30 days prior to Screening.
✕. A history of substance abuse.
✕. Diagnosis of active HIV or Hepatitis B or C infection.
✕. 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.
✕. 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.
✕. Any other active cause of optic neuropathy (Vitamin B12 deficiency, Vitamin E deficiency, etc.) or cardiac disease
✕. EF less than 35% at last echocardiographic evaluation

Change in High Contrast Visual Acuity

Timeframe: Baseline to 52 weeks

NCT IDNCT05168774

SponsorChildren's Hospital of Philadelphia

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2024-06-25

Results submitted2025-06-25

Who can participate

Age range16 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

✓. Genetically confirmed FRDA (point mutations allowed).
✓. Age \>16 years.
✓. Disease onset before 18 years of age.
✓. 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.
✓. 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.
✓. 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.
✓. 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
✓. 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.

✕. Any unstable illness that in the investigator's opinion precludes participation in the study.
✕. Use of any investigational product within 30 days prior to Screening.
✕. A history of substance abuse.
✕. Diagnosis of active HIV or Hepatitis B or C infection.
✕. 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.
✕. 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.
✕. Any other active cause of optic neuropathy (Vitamin B12 deficiency, Vitamin E deficiency, etc.) or cardiac disease
✕. EF less than 35% at last echocardiographic evaluation