MedTrace Logo

The Impact of Mitochondrial Dysfunction on Human Bone Cell Metabolism and Remodelling

NCT05483738 · Status: ACTIVE_NOT_RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 30

Last updated 2025-10-02

No results posted yet for this study

Summary

Cell and mice studies suggest mitochondrial dysfunction may cause altered bone structure.

Hypothesis: Decreased mitochondrial energy production affects bone cell development and activity negatively.

Comparing humans with the mitochondrial DNA variant, m.3243A\>G, pathogenic variants in POLG or TWNK genes to healthy controls, the aim is to evaluate the effect of mitochondrial dysfunction on: 1: bone-cell development and -activity in bone marrow stem cells and blood.

2: bone cell metabolism including glucose consumption. 3: bone structure assessed by electron microscopy and μCT scans of bone biopsies.

Conditions

  • Mitochondrial Diseases
  • Bone Remodeling Disorder

Interventions

DIAGNOSTIC_TEST

Clinical assessment, blood samples, bone marrow and bone biopsy

Assessment of blood samples, bone marrow and bone biopsy

Sponsors & Collaborators

  • Odense University Hospital

    collaborator OTHER

  • University of Southern Denmark

    collaborator OTHER

  • Aalborg University Hospital

    lead OTHER

Principal Investigators

  • Anja L Frederiksen, MD · Aalborg University Hospital

Study Design

Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2020-02-01
Primary Completion
2026-08-01
Completion
2026-12-01

Countries

  • Denmark

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05483738 on ClinicalTrials.gov