ArticlePloS one2018
Mitochondrial disease patient motivations and barriers to participate in clinical trials.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled 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.
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.
Who cites it
43 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Quantitative assessment of efficacy and evaluation of feasibility of exercise training protocols in adult and pediatric primary mitochondrial disease.BMC medicine · 2026Pooled it
- Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy.Journal of cachexia, sarcopenia and muscle · 2020Trial
- Motivations and Decision Making Processes of Men With X-linked Retinoschisis Considering Participation in an Ocular Gene Therapy Trial.American journal of ophthalmology · 2019Trial
- Mitochondria-Targeted Nanotherapies in Aging Neurodegenerative Disorders: Emerging Prospects and Clinical Potential.Advanced healthcare materials · 2026Review
- Clinical trial awareness and participation attitudes among patients with epidermolysis bullosa and their caregivers: a nationwide cross-sectional study from Saudi Arabia.Frontiers in medicine · 2026Article
- Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives.Journal of patient-reported outcomes · 2025Article
- Zagociguat prevented stressor-induced neuromuscular dysfunction, improved mitochondrial physiology, and increased exercise capacity in diverse mitochondrial respiratory chain disease zebrafish models.Frontiers in pharmacology · 2025Article
- The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviews.Therapeutic advances in chronic disease · 2025Article
- Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trials.Orphanet journal of rare diseases · 2024Article
- Knowledge and Attitudes of Clinical Trials among Patients with Rare Diseases and the Guardians in China.Therapeutic innovation & regulatory science · 2024Article
- Optimized Nutrition in Mitochondrial Diseases Correlates with Improved Muscle Fatigue, Strength, and Quality of Life: You Are What You Eat, or Are You?Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Article
- Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Article
- The evolution of the mitochondrial disease diagnostic odyssey.Orphanet journal of rare diseases · 2023Article
- Psychometric performance of the Primary Mitochondrial Myopathy Symptom Assessment (PMMSA) in a randomized, double-blind, placebo-controlled crossover study in subjects with mitochondrial disease.Journal of patient-reported outcomes · 2022Article
- Qualitative exploration of the lived experience of adults diagnosed with primary mitochondrial disease.JIMD reports · 2022Article
- Stakeholders' views on drug development: the congenital disorders of glycosylation community perspective.Orphanet journal of rare diseases · 2022Article
- Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).Molecular genetics and metabolism · 2022Review
- Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis.Molecular genetics and metabolism · 2022Article
- The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ).Orphanet journal of rare diseases · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
backgroundClinical treatment trials are increasingly being designed in primary mitochondrial disease (PMD), a phenotypically and genetically heterogeneous collection of inherited multi- system energy deficiency disorders that lack effective therapy. We sought to identify motivating factors and barriers to clinical trial participation in PMD.
methodsA survey study was conducted in two independent mitochondrial disease subject cohorts. A discovery cohort invited subjects with well-defined biochemical or molecularly- confirmed PMD followed at a single medical center (CHOP, n = 30/67 (45%) respondents). A replication cohort included self-identified PMD subjects in the Rare Disease Clinical Research Network (RDCRN) national contact registry (n = 290/1119 (26%) respondents). Five-point Likert scale responses were analyzed using descriptive and quantitative statistics. Experienced and prioritized symptoms for trial participation, and patient attitudes toward detailed aspects of clinical trial drug features and study design.
resultsPMD subjects experienced an average of 16 symptoms. Muscle weakness, chronic fatigue, and exercise intolerance were the lead symptoms encouraging trial participation. Motivating trial design factors included a self-administered study drug; vitamin, antioxidant, natural or plant-derivative; pills; daily treatment; guaranteed treatment access during and after study; short travel distances; and late-stage (phase 3) participation. Relative trial participation barriers included a new study drug; discontinuation of current medications; disease progression; daily phlebotomy; and requiring participant payment. Treatment trial type or design preferences were not influenced by population age (pediatric versus adult), prior research trial experience, or disease severity.
conclusionsThese data are the first to convey clear PMD subject preferences and priorities to enable improved clinical treatment trial design that cuts across the complex diversity of disease. Partnering with rare disease patient communities is essential to effectively design robust clinical trials that engage patients and enable meaningful evaluation of emerging treatment interventions.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.