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Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies

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Rigshospitalet

Status

Completed

Conditions

Healthy Controls
Mitochondrial Myopathies

Treatments

Diagnostic Test: Diagnostic screenings tests

Study type

Observational

Funder types

Other

Identifiers

NCT03513835
H-17032512

Details and patient eligibility

About

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.

Enrollment

50 patients

Sex

All

Ages

18 to 75 years old

Volunteers

Accepts Healthy Volunteers

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.

Trial design

50 participants in 2 patient groups

Mitochondrial myopathy
Treatment:
Diagnostic Test: Diagnostic screenings tests
Healthy controls
Treatment:
Diagnostic Test: Diagnostic screenings tests

Trial contacts and locations

1

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Data sourced from clinicaltrials.gov

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