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Study · Case report or series · n = 1 · 2025

1 result

Cardiac pathology in a patient with a novel pathogenic variant c.703del (p.Ile235SerfsTer4) of the TAFAZZIN gene.

Prasanpanich M, Husain M, Halnon NJ, Chang R, Zadeh N, Knight J, Fishbein GA

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology10 Jul 2025

PMID40645388 (opens in a new tab)DOI10.1016/j.carpath.2025.107749 (opens in a new tab)PepBankPUB-40645388
Publisher pagePubMedAsk about this study
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Summary

The text of this summary is not shown here, because the article license does not allow reuse. Read it at the source (opens in a new tab)

Text rights: Publisher copyright. Results still quote short attributed sentences.

Results from this study1

1 result from studies that gave the peptide. 1 result from people.

  1. 01HumanCase report or seriesSafety outcome

    In an infant with Barth syndrome and dilated cardiomyopathy, elamipretide was well tolerated without significant side effects.

    In plain wordsIn one infant with Barth syndrome, elamipretide caused no significant side effects. One case cannot show safety in others.

    Peptide
    Elamipretide (SS-31)
    Outcome
    No significant changeTolerability of elamipretide
    Study

    n = 1

    Outcome group
    Adverse events · Cardiovascular
    Studied dose
    Dose not stated · intravenous, then subcutaneous · from three weeks of age through transplantation, then continuedAs given in this study (human).

    Source sentences

    Summary
    he was treated with intravenous Elamipretide, a mitochondrially-targeted tetrapeptide interacting with cardiolipin, without significant side effects
    3 context sentences
    Summary · context
    Elamipretide was well tolerated.
    Summary · context
    A full-term male infant with an anatomically normal heart presented postnatally with cardiogenic shock necessitating VA-ECMO within the second day of life.
    Summary · context
    WGS revealed a pathogenic c.703del (p.Ile235SerfsTer4) variant in the TAFAZZIN gene.

AI wrote and checked these results. AI can make mistakes, so check important results against the source.

Version history

PepBank keeps every version of the data on this study. Status changes from Retraction Watch, Europe PMC and Crossref are listed with their source.

  1. Version 2Current

    10 Oct 2026, 08:19 UTC

    Study results updated

  2. Version 1

    9 Oct 2026, 02:47 UTC

    First added · source update from Europe PMC

Subjects

Terms as the source lists them.

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