Actively Recruiting
Natural History in Primary Mitochondrial Myopathies
Led by Cristina Domínguez González · Updated on 2025-09-16
150
Participants Needed
1
Research Sites
208 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Natural History in Primary Mitochondrial Myopathies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Muscle symptoms such as exercise intolerance, fatigue, muscle pain, recurrent rhabdomyolysis, chronic progressive external ophthalmoplegia, or muscular weakness
- Presence of primary mitochondrial DNA mutation or pathogenic mutations in nuclear DNA, especially in genes related to mitochondrial DNA maintenance such as TK2, POLG, TWNK, and RRM2B
You will not qualify if you...
- None
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Hospital Universitario 12 Octubre
Madrid, Madrid, Spain, 28041
Actively Recruiting
Research Team
C
Cristina Domínguez González, MD, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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