RecruitingNot Applicable

Natural History in Primary Mitochondrial Myopathies

Spain150 participantsStarted 2023-01-01

Plain-language summary

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.

Who can participate

Age range16 Years

SexALL

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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

What they're measuring

Motor Function (endurance)

Timeframe: 36 months

Trial details

NCT IDNCT05653544

SponsorCristina Domínguez González

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2026-06-01

Contact for this trial

Cristina Domínguez González, MD, PhD

+34917792582 Neuromuscular.hdoc@salud.madrid.org

View on ClinicalTrials.gov More Primary Mitochondrial Myopathies trials