Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- Rigshospitalet, Denmark
- Enrollment
- 50
- Locations
- 1
- Primary Endpoint
- Serum GDF-15
Study Overview
Brief Summary
The purpose of this study is to develop simple diagnostic screeningtests and investigate potential biomarkers for identifying patients with abnormalities of mitochondrial function, which also can be used as outcome measures in future clinical trials. The study will investigate two submaximal tests: a submaximal handgrip test and a walking test. Furthermore investigators will investigate Acyl-carnitine profiles and GDF-15 levels in patients with mitochondrial myopathy.
Study Design
- Study Type
- Observational
- Observational Model
- Case Control
- Time Perspective
- Cross Sectional
Eligibility Criteria
- Ages
- 18 Years to 75 Years (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- •age 18-75
- •verified mitochondrial myopathy
- •or healthy control
- •or disease control (another neuromuscular disease)
Exclusion Criteria
- •Patient has any prior or current medical conditions that, in the judgment of the Investigator, would prevent the patient from safely participating in and/or completing all study requirements.
- •Patient has symptoms of mitochondrial myopathy due to known secondary mitochondrial dysfunction
- •Patient does not have the cognitive capacity to understand/comprehend and complete all study assessments.
- •Pregnancy or breastfeeding.
Outcomes
Primary Outcomes
Serum GDF-15
Time Frame: 1 hour
Changes between: before and after exercise, fasted and fed.
Serum lactate / pyruvate ratio
Time Frame: 1 hour
Changes between: before, during and after submaximal exercise
Serum Acyl-carnitine levels
Time Frame: 1 hour
Changes between: before and after exercise, fasted and fed.
Secondary Outcomes
No secondary outcomes reported
Investigators
Nicoline Løkken
MD, PhD-student
Rigshospitalet, Denmark