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Natural History in Primary Mitochondrial Myopathies

Recruitingn/aAges 16 Years - anyAllCristina Domínguez González
NCT05653544 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

This is a longitudinal study in a cohort of patients with a genetic diagnosis of Primary Mitochondrial Myopathy to describe the natural history of the disease and identify clinical, biochemical, molecular, and radiological variables that allow evaluation of the severity and progression of the disease and may be useful in future clinical trials.

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📋 Eligibility rules (as published)
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
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What it tests

  • Not listed
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Where

1 site
Hospital Universitario 12 Octubre
Madrid, Spain
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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