Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies


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 Type

  • Study Type: Observational
  • Study Primary Completion Date: January 2020


  • Diagnostic Test: Diagnostic screenings tests
    • Handgrip test, 12-minute walk test and 6-minute walk test. Biomarkers: acyl-carnitine profile and GDF-15.

Clinical Trial Outcome Measures

Primary Measures

  • 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.
  • Serum GDF-15
    • Time Frame: 1 hour
    • Changes between: before and after exercise, fasted and fed.

Participating in This Clinical Trial

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.

Gender Eligibility: All

Minimum Age: 18 Years

Maximum Age: 75 Years

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • Rigshospitalet, Denmark
  • Provider of Information About this Clinical Study
    • Principal Investigator: Nicoline Løkken, MD, PhD-student – Rigshospitalet, Denmark
  • Overall Contact(s)
    • Nicoline Løkken, MD, +45 3545 8748, Nicoline.Loekken@regionh.dk

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