Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies

Completed

• Conditions: Healthy Controls; Mitochondrial Myopathies
• Interventions: Diagnostic Test: Diagnostic screenings tests

• Registration Number: NCT03513835
• Lead Sponsor: Rigshospitalet, Denmark

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2018-01-01
• Study First Submitted: 2018-01-15
• Study First Submitted QC: 2018-04-19
• Study First Posted: 2018-05-02
• Primary Completion: 2019-01-01
• Study Completion: 2019-01-01
• Status Verified: 2023-02
• Last Update Submitted: 2023-02-10
• Last Update Posted: 2023-02-14

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 50

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Mitochondrial myopathy	Diagnostic screenings tests	-
Healthy controls	Diagnostic screenings tests	-

Primary Outcome Measures

Name	Time	Method
Serum GDF-15	1 hour	Changes between: before and after exercise, fasted and fed.
Serum lactate / pyruvate ratio	1 hour	Changes between: before, during and after submaximal exercise
Serum Acyl-carnitine levels	1 hour	Changes between: before and after exercise, fasted and fed.

Trial Locations

Locations (1)

Copenhagen Neuromuscular Center, Rigshospitalet; 🇩🇰 Copenhagen, Denmark