RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
Updates are delayed or unverified. Check original sources for the latest information.
Your saved research and appointment questionsView recorded trial and retraction changes
Mitochondrial Disease: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Clinical spectrum and genotype–phenotype correlations of MT-CYB-associated mitochondrial disease: from the m.15045G > A variant to the broader disease landscape
He Z et al. (16 October 2026)
https://europepmc.org/search?query=Clinical%20spectrum%20and%20genotype%E2%80%93phenotype%20correlati
- 2.
Riboflavin therapy in complex I deficiency: Two new cases of leukoencephalopathy and a systematic literature review.
Ferrera Giulia et al., Journal of the neurological sciences (15 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42476091/
- 3.
Survival and causes of death in primary mitochondrial diseases
Katherine R. Schon et al., Genome Medicine (14 October 2026)
https://doi.org/10.1186/s13073-026-01801-z
- 4.
Optimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven prioritization
Lucile Riera-Navarro et al., European Journal of Human Genetics (12 October 2026)
https://doi.org/10.1038/s41431-026-02256-x
- 5.
Integrated Genotype, Phenotype and Neuro-Immune Biomarker Profiling in Primary Mitochondrial Disease
Ignazio Giuseppe Arena et al., Apollo (University of Cambridge) (12 October 2026)
https://doi.org/10.17863/cam.135513
Clinical Trials : Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
Digital Health Technology for People With Mitochondrial Disease
NCT06535646 · Completed · Neuroscience Research Australia
Ages 18 and over
https://clinicaltrials.gov/study/NCT06535646
- 2.
Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease
NCT05650229 · Recruiting · Phase 2 · Pharming Technologies B.V.
Ages 18 and over
https://clinicaltrials.gov/study/NCT05650229
- 3.
Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)
NCT05162768 · Completed · Phase 3 · Stealth BioTherapeutics Inc.
Ages 18 to 70
https://clinicaltrials.gov/study/NCT05162768
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Mitochondrial Disease
Mitochondrial Disease refers to a group of genetic disorders caused by mutations in mitochondrial or nuclear DNA that impair the mitochondria's ability to produce energy. Affecting approximately 1 in 5,000 Australians, it can cause a wide range of symptoms including muscle weakness, neurological problems, vision loss, and organ failure. Australia has world-leading research in this area.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Common Questions
What is Mitochondrial Disease?
Mitochondrial Disease refers to a group of genetic disorders caused by mutations in mitochondrial or nuclear DNA that impair the mitochondria's ability to produce energy. Affecting approximately 1 in 5,000 Australians, it can cause a wide range of symptoms including muscle weakness, neurological problems, vision loss, and organ failure. Australia has world-leading research in this area.
How many clinical trials are available for Mitochondrial Disease?
RareWays currently indexes 67 clinical trials for Mitochondrial Disease, of which 11 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Mitochondrial Disease come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
Get research updates
Monthly email when new findings are published for Mitochondrial Disease.
Your email and selected disease are stored for these updates. Unsubscribe any time. Privacy and deletion.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.