Natural history of primary mitochondrial myopathies
Official title: Natural History and Longitudinal Clinical Assessments in a Spanish Cohort of Primary Mitochondrial Myopathies
Run by Hospital Universitario 12 de Octubre · NCT05653544 · Data updated 2026-11-12
This study will follow people with genetically confirmed primary mitochondrial myopathies to see how muscle symptoms and biomarkers change over time.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 16 Years and up |
| Sex | All |
| Enrollment | 150 (estimated) |
| Sponsor | Hospital Universitario 12 de Octubre Academic / other |
| Locations | 1 site (Madrid, Madrid) |
| Status | Recruiting |
| Started | January 1, 2023 |
| Main results expected | June 1, 2026 |
| Study ends | December 31, 2026 |
| Registry record updated | September 16, 2025 |
| Trial ID | NCT05653544 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
People with predominant muscle symptoms and a genetic diagnosis of primary mitochondrial myopathy (mtDNA mutations or pathogenic nuclear genes such as TK2, POLG, TWNK, or RRM2B) are ideal candidates.
✕Probably not a fit
Patients without a confirmed pathogenic mitochondrial mutation, those whose disease is not primarily muscular, or people seeking an immediate therapeutic intervention are unlikely to benefit directly from this observational study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This is a longitudinal, observational cohort of patients with genetically confirmed primary mitochondrial myopathies who have predominantly muscular symptoms. Investigators will collect repeated clinical measures (motor strength, timed tests, functional and quality-of-life scales), serum biomarkers (including GDF15), molecular data, and radiological findings. Participants will be followed over time to identify which measures correlate best with disease severity and progression. The data are intended to define outcome measures and biomarkers that can be used in future clinical trials and to improve clinical monitoring.
Why it matters
Potential benefit: If successful, the study could identify reliable clinical and biomarker measures that speed up development of effective treatments and help doctors track disease progression.
How similar studies have gone: Natural history studies in mitochondrial disease are limited but prior work has suggested biomarkers like GDF15 can reflect disease burden, so this study builds on emerging but still incomplete evidence.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Muscle symptoms: exercise intolerance and fatigue, myalgia, recurrent rhabdomyolysis, chronic progressive external ophthalmoplegia and/or muscular weakness * Primary mtDNA mutation or pathogenic mutations in nDNA, especially in genes related to mtDNA maintenance such as TK2, POLG, TWNK and RRM2B, among others. Exclusion Criteria: * None
Where it's running
-
Hospital Universitario 12 Octubre
Madrid, Madrid, Spain Recruiting
Study contacts
- Study coordinator: Cristina Domínguez González, MD, PhD
- Email: Neuromuscular.hdoc@salud.madrid.org
- Phone: +34917792582
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.