Evidence map›Paper›PMID 41144106›Full record

ArticleJournal of patient-reported outcomes2025

Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives.

Paolo Medrano, Benjamin Banderas, Marisa Brimmer, Lily Settel, Sari Berger, Alan Shields, Amy Goldstein, Amel Karaa, Austin Larson, Sumit Parikh and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of patient-reported outcomes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Review
  2. Review
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

19 authors.

Paolo MedranoAdelphi Values, One Lincoln Street, Suite 2900, Boston, MA, 02111, USA. paolo.medrano@omc.com.
Benjamin BanderasAdelphi Values, One Lincoln Street, Suite 2900, Boston, MA, 02111, USA.
Marisa BrimmerAdelphi Values, One Lincoln Street, Suite 2900, Boston, MA, 02111, USA.
Lily SettelAdelphi Values, One Lincoln Street, Suite 2900, Boston, MA, 02111, USA.
Sari BergerAdelphi Values, One Lincoln Street, Suite 2900, Boston, MA, 02111, USA.
Alan ShieldsAdelphi Values, One Lincoln Street, Suite 2900, Boston, MA, 02111, USA.
Amy GoldsteinMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Amel KaraaDivision of Genetics Unit, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Austin LarsonSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, 80045, USA.
Sumit ParikhMitochondrial Medicine Center, Neurosciences Institute, Cleveland, OH, USA.
Fernando ScagliaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Karra Danyelle HarringtonCogstate Ltd., New Haven, CT, USA.
Chris James EdgarCogstate Ltd., New Haven, CT, USA.
Pamela VentolaCogstate Ltd., New Haven, CT, USA.
Matthew WebsterTisento Therapeutics, Cambridge, MA, USA.
Jennifer ChickeringTisento Therapeutics, Cambridge, MA, USA.
Chad GwaltneyGwaltney Consulting, Westerly, RI, USA.
Phebe WilsonTisento Therapeutics, Cambridge, MA, USA.
Chad GlasserTisento Therapeutics, Cambridge, MA, USA.

Funding

Tisento Therapeutics N/A
6 · The paper itself

Abstract

BACKGROUND AND

objectivesMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a rare genetic syndrome mostly associated with pathogenic variants in mitochondrial DNA. As there is limited research on the life experience of patients with MELAS, this study aimed to develop an understanding of the patient experience of MELAS through qualitative interviews to identify, describe, and substantiate important and relevant signs, symptoms, and health-related quality-of-life (HRQoL) impact (S/S/I) concepts.

methodsClinician and patient interviews were conducted virtually using semi-structured interview guides. During 60-minute interviews with five experts in the United States, clinicians were asked for their perspective on S/S/I of patients with MELAS, patient experience of fatigue and cognitive impairment, and whether patients would be able to accurately report and rate their symptoms and complete a 90-minute patient experience interview. During a 45-minute interview conducted with 16 adults with confirmed pathogenic variant and clinical diagnosis of MELAS, patients were asked about S/S/I. Interviews were recorded, transcribed, anonymized, coded, and analyzed for saturation and concept frequency and clarification (e.g., severity, frequency, duration).

resultsExperts reported 44 distinct S/S and 36 HRQoL impact concepts. All five experts confirmed that cognitive impairment would not inhibit a typical patient's ability to report on their own experiences; three reported that patients with MELAS would not be able to complete a 90-minute interview. Sixteen patient interviews (mean age: 42.3 [11.1], n = 10 women) were conducted. Interviews with patients with MELAS achieved saturation of concept and yielded 35 S/S concepts and 68 HRQoL impacts across 15 domains. The most frequently reported S/S concepts were physical fatigue (n = 15, 93.8%), hearing loss (n = 13, 81.3%), mental fatigue (n = 12, 75.0%), and exercise intolerance and memory problems (n = 11, 68.8% each). The most frequently reported impact domains were adaptive behaviors and work impacts (n = 14, 87.5% each) and emotional function (n = 13, 81.3%). DISCUSSION: Patients with MELAS can self-report on S/S/I. Results from both patient and clinician interviews demonstrate that symptoms related to fatigue and cognitive impairment are frequent, bothersome, and important to improve. Assessments of fatigue and cognitive function should therefore be considered key outcome measures in clinical trials enrolling patients with MELAS.

Indexed as

MELAS SyndromeQuality of LifeAdultCognitive DysfunctionFatigueFemaleHumansInterviews as TopicMaleMiddle AgedQualitative ResearchConcept elicitationMELASMitochondrial diseaseMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodesPatient-centered outcomesQualitative interviews

Identifiers

PMID41144106
PMCPMC12559487

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LicenceCC BY
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Registered trials

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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.