Study type: Human research · Status: Verified against declared source

A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism.

Genetics in medicine : official journal of the American College of Medical Genetics · 2021

Study scale: The trial protocol was approved by the Johns Hopkins University School of Medicine Investigational Review Board.

Abstract only: Open source record

Product or molecular entity relationships

  • SS-31: Exact entity relationship. Legacy citation custody associates this source with the catalog record; no product-relevance conclusion is implied.

Plain-language verified summary

Question

Statistical significance was achieved in improved measures for 6-minute walk test (m), the Barth Syndrome Symptom Assessment (BTHS-SA) total fatigue scale (mean score), Patient Global Impression (PGI) of symptoms (mean score), muscle strength measured by handheld dynamometry (HHD) (newtons), and the EQ-5D questionnaire Fig.

Methods

The “Phase 2 randomized, double-blind, placebo-controlled crossover trial to evaluate the safety, tolerability, and efficacy of subcutaneous injections of elamipretide (MTP-131) in subjects with genetically confirmed Barth syndrome followed by an open-label treatment extension (SPIBA 201)” (Clinicaltrials.gov NCT03098797) study was a sponsor-initiated, single-site, randomized, blinded, placebo-controlled crossover trial that was conducted at the Johns Hopkins Hospital.

Scale or participants

The trial protocol was approved by the Johns Hopkins University School of Medicine Investigational Review Board.

Key findings

To evaluate effectiveness of elamipretide in Barth syndrome (BTHS), a genetic condition of defects in TAZ, which causes abnormal cardiolipin on the inner mitochondrial membrane.

Limitations and uncertainty

After 12 weeks of elamipretide exposure, we did not see significant improvements in primary or secondary outcomes compared with placebo.

Verified against declared source. Verification is limited to the declared source and review scope. It does not mean independent replication or establish efficacy, safety, or suitability.