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
This trial does not accept healthy volunteersQualifiers
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 population
Patients with Primary Mitochondrial Myopathy with a genetic diagnosis
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
150 Participants
are grouped into 1 trial groupGroup A: Mitochondrial myopathy
Trial outcomes
Primary outcomes
1
Motor Function (endurance)
6 minute walking test (6MWT)
Time frame
36 monthsSecondary outcomes
1
Motor Function (functional scale)
North Star Ambulatory Assessment (NSAA)
Time frame
36 months2
Biomarkers
Analysis of levels of GDF15 y FGF21 annually
Time frame
36 months3
Levels of heteroplasmy
Analysis of levels of heteroplasmy annually
Time frame
36 months4
Muscle magenitc resonance image (MRI)
Quantification of the fat fraction in muscle MRI, annually
Time frame
36 monthsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Cristina Domínguez González
Lead sponsor
Hospital Universitario 12 de Octubre
Sponsor institution
Source ClinicalTrials.gov