Status:
COMPLETED
Mitochondrial Dysfunctions Driving Insulin Resistance
Lead Sponsor:
Rigshospitalet, Denmark
Collaborating Sponsors:
University of Copenhagen
Conditions:
Mitochondrial Myopathies
Mitochondrial Diseases
Eligibility:
All Genders
18+ years
Brief Summary
The overarching aim of this observational study is to characterize muscle mitochondrial defects in individuals harboring pathogenic mitochondrial DNA (mtDNA) mutations associated with an insulin-resis...
Detailed Description
Background: Peripheral insulin resistance is a major risk factor for metabolic diseases such as type 2 diabetes. Skeletal muscle accounts for the majority of insulin-stimulated glucose disposal, hence...
Eligibility Criteria
Inclusion
- Eligibility criteria for individuals with pathogenic mtDNA mutations
- Inclusion criteria:
- Known m.3243A\>G mutation in the MT-TL1 gene encoding the mitochondrial leucyl-tRNA 1 gene
- Other known mtDNA point mutations
- Exclusion criteria:
- Use of antiarrhythmic medications or other medications which, in the opinion of the investigators, have the potential to affect outcome measures.
- Diagnosed severe heart disease, dysregulated thyroid gland conditions, or other dysregulated endocrinopathies, or other conditions which, in the opinion of the investigators, have the potential to affect outcome measures.
- Pregnancy
- Eligibility criteria for controls
- Exclusion criteria:
- Current and regular use of antidiabetic medications or other medications which, in the opinion of the investigators, have the potential to affect outcome measures.
- Diagnosed heart disease, symptomatic asthma, liver cirrhosis or -failure, chronic kidney disease, dysregulated thyroid gland conditions or other dysregulated endocrinopathies, or other conditions which, in the opinion of the investigators, have the potential to affect outcome measures
- Daily use of tobacco products
- Excessive alcohol consumption
- Pregnancy
Exclusion
Key Trial Info
Start Date :
October 20 2023
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 20 2024
Estimated Enrollment :
30 Patients enrolled
Trial Details
Trial ID
NCT06080581
Start Date
October 20 2023
End Date
December 20 2024
Last Update
June 22 2025
Active Locations (1)
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1
Rigshospitalet
Copenhagen, Denmark, Denmark, 2100