Natural History in Primary Mitochondrial Myopathies

Recruiting now

Conditions studied: Primary Mitochondrial Myopathies

In brief

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.

Key facts

Study ID

NCT05653544

Run by

Cristina Domínguez González

People needed

150

Starts

2023-01-01

Expected to finish

2026-12-31

Last updated by the study team

2025-09-16

Who can join

Age: 16 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• None

Where it is running

• Hospital Universitario 12 Octubre — Madrid, Madrid, Spain (enrolling)

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.