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

Denmark30 participantsStarted 2020-02-01

Plain-language 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.

Who can participate

Age range18 Years

SexALL

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

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.

What they're measuring

Extracellular acidification rate (ECAR) (mpH/min)

Timeframe: Up to 12 weeks

Oxygen consumption rate (OCR) (mpMol/min)

Timeframe: Up to 12 weeks

Growth rate (number of cells)

Timeframe: Up to 12 weeks

Trial details

NCT IDNCT05483738

SponsorAalborg University Hospital

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2026-08-01

View on ClinicalTrials.gov More Mitochondrial Diseases trials

Plain-language summary

Who can participate

Age range18 Years

SexALL

See this in plain English?

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