Natural History in Primary Mitochondrial Myopathies
ConditionPrimary Mitochondrial Myopathies
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age16+
SponsorCristina Domínguez González
About this trial
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 criteria
Qualifiers
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.
Disqualifiers
None
Trial design
Treatments tested in this trial
- Not listed
Trial groups
150 Participants
are grouped into 1 trial groupSponsors and collaborators
Cristina Domínguez González
Lead sponsor
Hospital Universitario 12 de Octubre
Sponsor institution
Source ClinicalTrials.gov