RecruitingNCT05653544
Natural History in Primary Mitochondrial Myopathies
Natural History and Longitudinal Clinical Assessments in a Spanish Cohort of Primary Mitochondrial Myopathies
Sponsor
Cristina Domínguez González
Enrollment
150 participants
Start Date
Jan 1, 2023
Study Type
OBSERVATIONAL
Conditions
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.
Eligibility
Min Age: 16 Years
Inclusion Criteria2
- 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 Criteria1
- None
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Locations(1)
View Full Details on ClinicalTrials.gov
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NCT05653544