Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies

February 10, 2023 updated by: Nicoline Løkken, Rigshospitalet, Denmark
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 Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Denmark
      • Copenhagen, Denmark
        • Copenhagen Neuromuscular Center, Rigshospitalet

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 75 years (ADULT, OLDER_ADULT)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Genetically verified primary Mitochondrial disorder with myopathy.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Healthy controls
Diagnostic test: Diagnostic screenings tests
Handgrip test, 12-minute walk test and 6-minute walk test. Biomarkers: acyl-carnitine profile and GDF-15.
Mitochondrial myopathy
Diagnostic test: Diagnostic screenings tests
Handgrip test, 12-minute walk test and 6-minute walk test. Biomarkers: acyl-carnitine profile and GDF-15.

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Rigshospitalet, Denmark

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

January 1, 2018

Primary Completion (ACTUAL)

January 1, 2019

Study Completion (ACTUAL)

January 1, 2019

Study Registration Dates

First Submitted

January 15, 2018

First Submitted That Met QC Criteria

April 19, 2018

First Posted (ACTUAL)

May 2, 2018

Study Record Updates

Last Update Posted (ESTIMATE)

February 14, 2023

Last Update Submitted That Met QC Criteria

February 10, 2023

Last Verified

February 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • H-17032512

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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