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Clinical Trials in Spain / NCT05653544
Recruiting Observational

Natural History in Primary Mitochondrial Myopathies

NCT05653544 · tracked via the Priya Life Science Spain tracker
Sponsor
Cristina Domínguez González
Phase
Observational
Started
2023-01-01
Last updated
2025-09-16

Condition(s) studied

Primary Mitochondrial Myopathies

Study 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

Sex
ALL
Min age
16 Years
Max age
—
Healthy volunteers
No
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

Primary outcome measure(s)

  • Motor Function (endurance) — 36 months
    6 minute walking test (6MWT)

Trial sites (1)

FacilityCityRegionStatus
Hospital Universitario 12 Octubre Madrid Madrid Recruiting

More Cristina Domínguez González trials in Spain

Doxecitin and Doxribthymine in Adult Subjects With Thymidine Kinase 2 (TK2) Deficiency Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT05653544 on ClinicalTrials.gov ↗ ← All trials in Spain