CompletedNot Applicable

Human Mitochondrial Stress-driven Obesity Resistance

Denmark30 participantsStarted 2023-10-20

Plain-language summary

The overarching aim of this observational study is to determine alterations in energy balance while exploring the underlying cellular mechanisms in human genetic models of mitochondrial stress. In a case-control design, individuals with pathogenic mitochondrial DNA mutations will be compared to healthy controls matched for sex, age, and physical activity level. Participants will attend a screening visit and an experimental trial including assessments of energy expenditure, appetite sensation, energy intake, and muscle and subcutaneous adipose tissue biopsy samples.

Who can participate

Age range

18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Eligibility criteria for individuals with mitochondrial DNA mutations Inclusion criteria: \- 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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Resting energy expenditure

Timeframe: Before (baseline) and 60-180 minutes after ingestion of a glucose solution

Appetite

Timeframe: Before (baseline) and 60-180 minutes after ingestion of a glucose solution as well as immediately after an ad libitum meal test

Energy intake

Timeframe: 180 minutes after ingestion of a glucose solution

Trial details

NCT IDNCT06080568

SponsorRigshospitalet, Denmark

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2024-12-20

View on ClinicalTrials.gov More Mitochondrial Diseases trials