Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies
1 other identifier
observational
50
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Jan 2018
Shorter than P25 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
January 1, 2018
CompletedFirst Submitted
Initial submission to the registry
January 15, 2018
CompletedFirst Posted
Study publicly available on registry
May 2, 2018
CompletedPrimary Completion
Last participant's last visit for primary outcome
January 1, 2019
CompletedStudy Completion
Last participant's last visit for all outcomes
January 1, 2019
CompletedFebruary 14, 2023
February 1, 2023
1 year
January 15, 2018
February 10, 2023
Conditions
Outcome Measures
Primary Outcomes (3)
Serum lactate / pyruvate ratio
Changes between: before, during and after submaximal exercise
1 hour
Serum Acyl-carnitine levels
Changes between: before and after exercise, fasted and fed.
1 hour
Serum GDF-15
Changes between: before and after exercise, fasted and fed.
1 hour
Study Arms (2)
Mitochondrial myopathy
Healthy controls
Interventions
Handgrip test, 12-minute walk test and 6-minute walk test. Biomarkers: acyl-carnitine profile and GDF-15.
Eligibility Criteria
Genetically verified primary Mitochondrial disorder with myopathy.
You may qualify if:
- age 18-75
- verified mitochondrial myopathy
- or healthy control
- or disease control (another neuromuscular disease)
You may not qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Copenhagen Neuromuscular Center, Rigshospitalet
Copenhagen, Denmark
Related Publications (1)
Lokken N, Skriver SV, Khawajazada T, Storgaard JH, Vissing J. Plasma lactate responses during and after submaximal handgrip exercise are not diagnostically helpful in mitochondrial myopathy. Mitochondrion. 2021 Sep;60:21-26. doi: 10.1016/j.mito.2021.07.002. Epub 2021 Jul 15.
PMID: 34273558DERIVED
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- CROSS SECTIONAL
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- MD, PhD-student
Study Record Dates
First Submitted
January 15, 2018
First Posted
May 2, 2018
Study Start
January 1, 2018
Primary Completion
January 1, 2019
Study Completion
January 1, 2019
Last Updated
February 14, 2023
Record last verified: 2023-02
Data Sharing
- IPD Sharing
- Will not share