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

NCT ID: NCT03098797

Last Updated: 2024-04-16

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE2/PHASE3
• Total Enrollment: 12 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2017-07-05
• Study Completion Date: 2021-10-11

Brief Summary

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

Detailed Description

A phase 2 randomized, double-blind, placebo-controlled crossover trial to evaluate the safety, tolerability, and efficacy of subcutaneous injections of elamipretide in subjects with genetically confirmed Barth syndrome followed by open-label treatment extension. Part 1 was a randomized, double-blind, placebo-controlled, crossover trial to assess safety, tolerability, and efficacy single daily subcutaneous (SC) doses of 40 mg elamipretide administered for 12 weeks in subjects with Barth syndrome. Part 2: This was an open-label extension trial to assess the long-term safety, tolerability, and longitudinal trends in efficacy single daily SC doses of 40 mg elamipretide for up to 192 weeks.

Conditions

Barth Syndrome

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: CROSSOVER
• Primary Study Purpose: TREATMENT
• Blinding Strategy: QUADRUPLE

Study Groups

Elamipretide, then Placebo

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

Group Type: EXPERIMENTAL

Elamipretide

Intervention Type: DRUG

40 mg daily subcutaneous injection for 12 weeks

Placebo

Intervention Type: DRUG

daily subcutaneous injection for 12 weeks

Placebo , then Elamipretide

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

Group Type: PLACEBO_COMPARATOR

Elamipretide

Intervention Type: DRUG

40 mg daily subcutaneous injection for 12 weeks

Placebo

Intervention Type: DRUG

daily subcutaneous injection for 12 weeks

Interventions

Elamipretide

40 mg daily subcutaneous injection for 12 weeks

Intervention Type: DRUG

Placebo

daily subcutaneous injection for 12 weeks

Intervention Type: DRUG

Other Intervention Names

MTP-131; Placebo Comparator

Eligibility Criteria

Inclusion Criteria

• Genetically confirmed Barth Syndrome
• Male aged 12 and above
• At the screening visit, eGFR must meet the following:

1. Body weight >30 kg AND eGFR ≥ 90mL/min at screening

2. 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

Exclusion Criteria

• 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

• Minimum Eligible Age: 12 Years
• Eligible Sex: MALE
• Accepts Healthy Volunteers: No

Sponsors

Stealth BioTherapeutics Inc.

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Hilary Vernon, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

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

Locations

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

Baltimore, Maryland, United States

Countries

United States

References

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.

Reference Type: DERIVED

PMID: 40281531 (View on PubMed)

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.

Reference Type: DERIVED

PMID: 37180415 (View on PubMed)

Provided Documents

Document Type: Study Protocol and Statistical Analysis Plan

View Document

Other Identifiers

SPIBA-201

Identifier Type: -

Identifier Source: org_study_id