A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth Syndrome

NCT03098797 | Completed Phase 2 Results DMC FDA Drug

• 1 other identifier: SPIBA-201
• Study Type: interventional
• Target: 12
• Locations: 1 country
• Sites: 1

Brief Summary

A randomized, double-blind cross over trial to evaluate the safety, efficacy, and tolerability of elamipretide in subjects with Barth syndrome.

Conditions

Barth Syndrome

Keywords

Barth Syndrome; elamipretide; MTP-131; Stealth; Stealth BT; BTHS

Outcome Measures

Primary Outcomes (2)

• Part 1: Distance Walked During the 6-Minute Walk Test (6MWT) by Visit

  Average distance walked in meters during the 6-minute walk test (6MWT) at end of treatment, where end of treatment means end of Visit 5 (Week 12) for Period 1 and end of Visit 10 (Week 12) for Period 2. Results were pooled for each 12 week period.

  Pre-dose to Week 12 (end of treatment)

• Part 1: Total Fatigue Score Based on the BTHS-SA by Visit.

  Total Fatigue Score (Q1, Q2, and Q4) Based on the BarTH Syndrome Symptom Assessment (BTHS-SA) by visit at predose, Weeks 1, 4, 8, and 12 (end of treatment). The BTHS-SA is 3-question fatigue assessment using a 0 to 4-point scale for each question where no fatigue =0 and very severe fatigue =4, with scores from all 3 questions combined and averaged for all subjects; a lower score means better outcome, higher score means a worse outcome. Combined Min score=0, max score =12. Weekly values are based on the weekly average of the last 7 days before the site or visiting nurse visit for both periods. Results from each 12-week period were combined, where end of treatment for Period 1 =Visit 5 (week 12), and End of Period 2 = Visit 10 (week 12)

  Pre-dose, Weeks 1, 4, 8, and 12 (end of treatment)

Secondary Outcomes (12)

• Part 2: Distance Walked During the 6MWT

  Baseline to Weeks 12, 24, 36, 48, 72, 96, 168, 192

• Part 2: Change From Baseline: Total Fatigue Score (Q1, Q2, and Q4) Based on the BTHS-SA by Visit

  Baseline to Weeks 12, 24, 36, 48, 72, 96, 120, 144, 168, 192

• Part 1: Muscle Strength as Measured by HHD by Visit

  Pre-dose to Week 12 (end of treatment)

• Part 2: Change From Baseline: Muscle Strength by HHD (Newtons) by Visit

  Baseline to Weeks 12, 24, 36, 48, 72, 96,168, 192

• Part 1: 5XSST by Visit

  Pre-dose to Week 12 (end of treatment)

Study Arms (2)

Elamipretide, then Placebo

EXPERIMENTAL

Experimental Part 1: 12 weeks of single daily SC doses of 40 mg elamipretide in Treatment Period 1 followed by 12 weeks of treatment with placebo in Treatment Period 2 (separated by a 4 week washout period). Experimental Open Label Extension Part 2: All subjects will receive Elamipretide 40mg SC daily injections for up to 168 weeks

Drug: Elamipretide; Drug: Placebo

Placebo , then Elamipretide

PLACEBO COMPARATOR

Placebo Comparator Part 1: 12 weeks of single daily SC doses of placebo in Treatment Period 1 followed by 12 weeks of treatment with 40 mg elamipretide in Treatment Period 2 (separated by a 4 week washout period). Placebo Comparator Open Label Extension Part 2: All subjects will receive Elamipretide 40mg SC daily injections for up to 168 weeks

Drug: Elamipretide; Drug: Placebo

Interventions

Elamipretide DRUG

40 mg daily subcutaneous injection for 12 weeks

Also known as: MTP-131

Elamipretide, then Placebo; Placebo , then Elamipretide

Placebo DRUG

daily subcutaneous injection for 12 weeks

Also known as: Placebo Comparator

Elamipretide, then Placebo; Placebo , then Elamipretide

Eligibility Criteria

• Age: 12 Years+
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Genetically confirmed Barth Syndrome
• Male aged 12 and above
• At the screening visit, eGFR must meet the following:
• Body weight \>30 kg AND eGFR ≥ 90mL/min at screening
• Body weight \>40kg AND eGFR ≥60 but \<90mL/min/ 1.73m² at screening
• Ambulatory and impaired during the baseline 6MWT
• On stable medication for 30 days prior to the baseline visit

You may not qualify if:

• Participated in another interventional clinical trial within 30 days of or is currently enrolled in a non-interventional clinical trial at the baseline visit potentially confounding with this trial
• Prior or current medical condition that would prevent the subject from safely participating in the trial
• Undergone any inpatient hospitalizations within 30 days of the baseline visit
• Is undergoing an apparent pubertal growth spurt
• Has uncontrolled hypertension
• History of substance abused within the year before the baseline visit or is likely to be uncompliant
• History of heart transplantation or current placement on the waiting list for a heart transplant
• For subjects with an ICD: known occurrence of ICD discharge in the 3 months prior to the baseline visit
• For subjects without an ICD: expected to undergo an implantation of an ICD during the conduct of the study
• Currently receiving treatment with chemotherapeutic agents or immunosuppressant agents or has received prior radiation therapy to the chest
• Recipient of stem cell or gene therapy or is currently being treated by a therapeutic investigational device

Sponsors & Collaborators

• Stealth BioTherapeutics Inc.: lead

Study Sites (1)

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine

Baltimore, Maryland, 21287, United States

Location

Related Publications (2)

• Gwaltney C, Shields A, Love E, Ollis S, Stokes J, Mazar I, Arenson E, Aiudi A, Wirth RJ, Houts C. Initial Psychometric Evaluation of the Barth Syndrome Symptom Assessment (BTHS-SA) for Adolescents and Adults in a Phase 2 Clinical Study. Orphanet J Rare Dis. 2025 Apr 25;20(1):199. doi: 10.1186/s13023-025-03693-5.

  PMID: 40281531 DERIVED

• Kim AY, Vernon H, Manuel R, Almuqbil M, Hornby B. Quality of life in Barth syndrome. Ther Adv Rare Dis. 2022 Jun 11;3:26330040221093743. doi: 10.1177/26330040221093743. eCollection 2022 Jan-Dec.

  PMID: 37180415 DERIVED

MeSH Terms

Conditions

Barth Syndrome

Interventions

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

Condition Hierarchy (Ancestors)

Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Results Point of Contact

• Title: Jim Carr, Pharm.D. Chief Clinical Development Officer
• Organization: Stealth BioTherapeutics, Inc

jim.carr@stealthbt.com

1-617-600-6888

Study Officials

• Hilary Vernon, MD, PhD

  McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: GT60
• Restrictive Agreement: Yes

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Model Details: 28 weeks, double-blinded crossover followed by a 168-week open label long term safety \& tolerability trial.

Study Record Dates

• First Submitted: March 21, 2017
• First Posted: April 4, 2017
• Study Start: July 5, 2017
• Primary Completion: October 5, 2018
• Study Completion: October 11, 2021
• Last Updated: April 16, 2024
• Results First Posted: April 16, 2024

Record last verified: 2024-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)