A Non-Interventional Mechanistic Study to Characterize Biomarkers for Mitochondrial Dysfunction and Inflammation in Subjects with Mitochondrial Disorder and Cardiomyopathy, and Healthy Volunteers

A Non-Interventional Mechanistic Study to Characterize Biomarkers for Mitochondrial Dysfunction and Inflammation in Subjects with Mitochondrial Disorder and Cardiomyopathy, and Healthy Volunteers - Biomarkers in mitochondrial patients and healthy volunteers

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON51060

Enrollment

Registered

2021-08-01

Start date

2021-10-13

Completion date

Unknown

Last updated

2025-08-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

cardiomyopathy energy metabolism disease mitochondrial diseases

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: All subjects 1. Adults between 18 and 75 years, inclusive at screening 2. Body mass index (BMI) 18.0 to 30.0 kg/m2, inclusive at screening 3. Ability and willingness to abstain from alcohol at study visit 4. Subject (and/or parent/legal guardian) has voluntarily signed consent form. 5. Willingness and ability to comply with all study procedures. 6. Ability to communicate with the investigator in Dutch or English Subjects of cohort 1 with Mitochondrial Disorder (in addition) 7. Diagnosis of Mitochondrial Disorder, confirmed by: a. Genetic testing at any time prior to screening showing m.3243A>G mutation b. Newcastle Mitochondrial Disease Scale (NMDAS) score *11 8. Any current cardiomyopathy (e.g., LVH, reduced systolic function or strain, ECG abnormalities consistent with cardiac involvement etc.). Subjects of cohort 2 Healthy Volunteers (in addition) 9. Judged to be in good health in the opinion of the Investigator on the basis of a medical evaluation that reveals the absence of any clinically relevant abnormality 10. Matching to MitoD group for age (+/- 5 years), gender, and BMI (+/- 3 kg/m2).

Exclusion criteria

Exclusion criteria: 2. Women with positive urine hCG test at screening 3. Subject has a hemoglobin values outside the normal limits (as per local lab) 4. Subject has received drug therapy with any cytostatic, sGC stimulator/activator or nitrate agent during the last 3 months 5. Subjects with severe aortic valve stenosis 6. Subject has received drug therapy with Metformin during last 3 months 7. Significant psychiatric or neurological disorder that would inhibit the subject from being compliant with study procedures 15. Positive nasopharyngeal rapid antigen test for SARS-CoV-2 at admission to the clinical research center 16. Subject has received any vaccination in the last 2 weeks prior to Visit 1 Subjects of cohort 2 Healthy Volunteers (in addition) 17. Subject has acute decompensated hepatic, gastrointestinal, respiratory, cardiovascular, metabolic, immunological, or hormonal disorders.

Design outcomes

Primary

Measure	Time frame
The difference in performance of mitochondrial function assays between MitoD subjects and HV subjects	—

Secondary

Measure	Time frame
Difference in blood serum/plasma markers associated with inflammation and oxidative stress (IL-6, hs-CRP, PTX-3, and GDF-15) between MitoD subjects and HV subjects	—

Countries

Netherlands

Outcome results