Status:

COMPLETED

Human Mitochondrial Stress-driven Obesity Resistance

Lead Sponsor:

Rigshospitalet, Denmark

Collaborating Sponsors:

University of Copenhagen

Conditions:

Mitochondrial Diseases

Mitochondrial Myopathies

Eligibility:

All Genders

18+ years

Brief 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 ...

Detailed Description

Background: Pre-clinical models of mitochondrial stress are resistant to diet-induced obesity. Likewise, humans with primary mitochondrial diseases present a high prevalence of underweight (42%) as co...

Eligibility Criteria

Inclusion

  • 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

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

    NCT06080568

    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