FRDA Investigator Initiated Study (IIS) With Elamipretide

NCT05168774 | Completed Phase 1 Results FDA Drug

• 2 other identifiers: 20-018049SPIFA-101
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Friedreich Ataxia

Keywords

Friedreich Ataxia

Outcome Measures

Primary Outcomes (1)

• Change in High Contrast Visual Acuity

  Change in High Contrast Visual Acuity will be measured by assessing the differences in the number of letters read (binocular) on the ETDRS High Contrast Visual Acuity Chart between groups (low dose and high dose).

  Baseline to 52 weeks

Secondary Outcomes (7)

• Change in Low Contrast Visual Acuity

  Baseline to 52 weeks

• Change in Low Luminescence Visual Activity

  Baseline to 52 weeks

• Change in Retinal Nerve Fiber Layer by Optical Coherence Tomography (OCT)

  Baseline to 52 weeks

• Change in Visual Quality of Life by Visual Functioning Questionnaire (VFQ)

  Baseline to 52 weeks

• Change in Cardiac Strain

  Baseline to 36 weeks

Study Arms (2)

Low Dose (20-30mg)

EXPERIMENTAL

Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (20-30 mg) for 52 weeks

Drug: Elamipretide

High Dose (40-60 mg)

EXPERIMENTAL

Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (40-60 mg) for 52 weeks

Drug: Elamipretide

Interventions

Elamipretide DRUG

Elamipretide is a tetra peptide with limited blood brain barrier penetration being developed for use in a variety of mitochondrial disorders, including FRDA, mitochondrial myopathy and Barth Syndrome.

Also known as: MTP-131, SS-31

High Dose (40-60 mg); Low Dose (20-30mg)

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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
• Uncontrolled arrhythmia
• Current use of any systemic chronic immunosuppressive drugs
• Current use of Metformin

Sponsors & Collaborators

• Children's Hospital of Philadelphia: lead
• Friedreich's Ataxia Research Alliance: collaborator
• Stealth BioTherapeutics Inc.: collaborator

Study Sites (1)

Children's Hospital of Philadelphia - Neurology

Philadelphia, Pennsylvania, 19104, United States

Location

MeSH Terms

Conditions

Friedreich Ataxia

Interventions

arginyl-2,'6'-dimethyltyrosyl-lysyl-phenylalaninamide

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Results Point of Contact

• Title: Dr. David Lynch
• Organization: Children's Hospital of Philadelphia

lynch@chop.edu

215-590-2242

Study Officials

• David Lynch, MD, PhD

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Neurology in Pediatrics at the Children's Hospital of Philadelphia
• Expanded Access: Yes

Study Record Dates

• First Submitted: December 9, 2021
• First Posted: December 23, 2021
• Study Start: March 3, 2022
• Primary Completion: June 25, 2024
• Study Completion: July 25, 2024
• Last Updated: December 12, 2025
• Results First Posted: December 12, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)