Understanding how mitochondrial dysfunction affects insulin resistance
Mitochondrial Derangements Driving Muscle Insulin Resistance in Humans
Rigshospitalet, Denmark · NCT06080581
This study looks at how problems with tiny energy factories in muscles, caused by certain genetic mutations, affect insulin resistance in people compared to those without these mutations.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Rigshospitalet, Denmark (other) |
| Locations | 1 site (Copenhagen) |
| Trial ID | NCT06080581 on ClinicalTrials.gov |
What this trial studies
This observational study aims to characterize muscle mitochondrial defects in individuals with pathogenic mitochondrial DNA mutations linked to insulin resistance. It employs a case-control design, comparing affected individuals to matched controls based on sex, age, and physical activity. Participants will undergo an oral glucose tolerance test, a hyperinsulinemic-euglycemic clamp, and muscle biopsy sampling to assess mitochondrial function and its relationship to insulin action. The study seeks to clarify the role of mitochondrial dysfunction in the development of insulin resistance and its implications for metabolic diseases.
Who should consider this trial
Good fit: Ideal candidates include individuals with known pathogenic mitochondrial DNA mutations, particularly the m.3243A>G mutation.
Not a fit: Patients without mitochondrial DNA mutations or those with conditions affecting insulin action may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and potential treatments for insulin resistance in patients with mitochondrial disorders.
How similar studies have performed: While mitochondrial dysfunction has been studied in relation to insulin resistance, this specific approach focusing on genetic mutations is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Copenhagen
- Rigshospitalet — Copenhagen, Denmark (RECRUITING)
Study contacts
- Principal investigator: Matteo Fiorenza, Ph.D. — Rigshospitalet, Denmark
- Study coordinator: Matteo Fiorenza, Ph.D.
- Email: matteo.fiorenza@regionh.dk
- Phone: +4535458748
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Mitochondrial Myopathies, Mitochondrial Diseases, Mitochondrial Disorders, Mitochondrial disease, Muscle metabolism, Insulin resistance