Investigating how mitochondrial dysfunction affects bone cell metabolism and remodeling
The Impact of Mitochondrial Dysfunction on Human Bone Cell Metabolism and Remodelling
NA · Aalborg University Hospital · NCT05483738
This study is trying to see how problems with energy production in cells affect bone health by comparing people with certain genetic traits to healthy individuals.
Quick facts
| Phase | NA |
|---|---|
| Study type | Interventional |
| Enrollment | 30 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Aalborg University Hospital (other) |
| Locations | 1 site (Aalborg) |
| Trial ID | NCT05483738 on ClinicalTrials.gov |
What this trial studies
This study aims to explore the impact of mitochondrial dysfunction on bone cell development and activity by comparing individuals with specific mitochondrial DNA variants to healthy controls. It will assess bone cell metabolism, including glucose consumption, and evaluate bone structure using advanced imaging techniques such as electron microscopy and μCT scans of bone biopsies. The research focuses on understanding the role of mitochondria in bone health, particularly in relation to conditions like osteoporosis. By analyzing bone marrow stem cells and blood samples, the study seeks to uncover the mechanisms linking mitochondrial dysfunction to bone disorders.
Who should consider this trial
Good fit: Ideal candidates include adults over 18 years with a genetic diagnosis of specific mitochondrial DNA variants or pathogenic variants in POLG or TWNK genes.
Not a fit: Patients with renal or liver dysfunction, those on certain medications affecting bone metabolism, or individuals with pre-existing coagulopathy may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to new insights and potential treatments for patients with mitochondrial diseases and related bone disorders.
How similar studies have performed: While the specific focus on mitochondrial dysfunction in bone metabolism is novel, related studies have shown promising results in understanding mitochondrial roles in other metabolic tissues.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria - cases: * Genetic diagnosis with: MT-TL1 m.3243A\>G, or POLG variant, het or TWNK variant, het, \> 18 years * Signed informed consent Inclusion Criteria - controls: * Healthy subjects matched on age and gender \> 18 years * Signed informed consent Exclusion Criteria: * Renal (creatinine \> 90 µmol/l) * Liver dysfunction (AST \> 3 times the upper limit) * Medical treatment influencing bone metabolism (oral corticosteroid \<12 weeks, anti-osteoporosis treatment, sex steroids, anti-convulsants) * Pregnancy * Excessive consumption of alcohol * Treatment with anticoagulants * Pre-existing coagulopathy * Allergy to lidocaine, morphine or diazepam.
Where this trial is running
Aalborg
- Dept. of Clinical Genetics — Aalborg, Denmark (RECRUITING)
Study contacts
- Principal investigator: Anja L Frederiksen, MD — Aalborg University Hospital
- Study coordinator: Anja L Frederiksen, MD
- Email: Anja.Lisbeth.Frederiksen@rn.dk
- Phone: +4597664999
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 Diseases, Bone Remodeling Disorder, m3243A>G, POLG, TWNK, Mitochondria