Natural history of primary mitochondrial myopathies
Natural History and Longitudinal Clinical Assessments in a Spanish Cohort of Primary Mitochondrial Myopathies
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 |
|---|---|
| Enrollment | 150 (estimated) |
| Ages | 16 Years and up |
| Sex | All |
| Sponsor | Hospital Universitario 12 de Octubre Academic / other |
| Locations | 1 site (Madrid, Madrid) |
| Trial ID | NCT05653544 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: 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.
Eligibility criteria
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 this trial is running
Madrid, Madrid
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.