Evidence map›Paper›PMID 33077895›Full record

Trial reportGenetics in medicine : official journal of the American College of Medical Genetics2021

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.

W Reid Thompson, Brittany Hornby, Ryan Manuel, Elena Bradley, Janice Laux, Jim Carr, Hilary J Vernon

Open access · hybridAbstract readClinical Trial, Phase IIClinical Trial, Phase IIIRandomized Controlled Trial
PubMed Full text at PMC Publisher
In one paragraph

Trial report in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
84citing papers in PubMed, 1 pooled it
5.0field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

84 citing papers in PubMed, 1 synthesis or guideline pooled it, 116 citations in OpenAlex.

  1. Pooled it
  2. Trial
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  9. Article
  10. AMCP Market Insights: Managed care considerations in Barth syndrome.Journal of managed care & specialty pharmacy · 2026
    Article
  11. Review
  12. Effects of Cannabidiol on TAFAZZIN-Deficient B-Lymphoblastoid Cells.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026
    Article
  13. Review
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  15. Article
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24 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 1 country.

W Reid Thompson *Department of Pediatric Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Brittany Hornby *Department of Physical Therapy, Kennedy Krieger Institute, Baltimore, MD, USA.
Ryan ManuelDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Elena BradleyDepartment of Physical Therapy, Kennedy Krieger Institute, Baltimore, MD, USA.
Janice LauxDepartment of Physical Therapy, Kennedy Krieger Institute, Baltimore, MD, USA.
Jim CarrStealth BioTherapeutics Inc, Newton, MA, USA.
Hilary J VernonDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. hvernon1@jhmi.edu.ORCID http://orcid.org/0000-0001-9940-9866
Johns Hopkins University · USKennedy Krieger Institute · USStealth BioTherapeutics (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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

methodsWe performed a randomized, double-blind, placebo-controlled crossover trial followed by an open-label extension in BTHS to test the effect of elamipretide, a mitochondrial tetrapeptide that interacts with cardiolipin. In part 1, 12 subjects were randomized to 40 mg per day of elamipretide or placebo for 12 weeks, followed by a 4-week washout and then 12 weeks on the opposite arm. Ten subjects continued on the open-label extension (part 2) of 40 mg per day of elamipretide, with eight subjects reaching 36 weeks. Primary endpoints were improvement on the 6-minute walk test (6MWT) and improvement on a BTHS Symptom Assessment (BTHS-SA) scale.

resultsIn part 1 neither primary endpoint was met. At 36 weeks in part 2, there were significant improvements in 6MWT (+95.9 m, p = 0.024) and BTHS-SA (-2.1 points, p = 0.031). There were also significant improvements in secondary endpoints including knee extensor strength, patient global impression of symptoms, and some cardiac parameters.

conclusionIn this interventional clinical trial in BTHS, daily administration of elamipretide led to improvement in BTHS symptoms.

Indexed as

Barth SyndromeCardiolipinsHumansMitochondriaOligopeptidesarginyl-2,'6'-dimethyltyrosyl-lysyl-phenylalaninamideCardiolipinsOligopeptides6-minute walk testBarth syndromecardiolipinelamipretide

Identifiers

PMID33077895
PMCPMC7935714
OpenAlexW3093230103

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.