Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-01-01

Study Completion Date

2019-01-01

Brief Summary

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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.

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Detailed Description

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Conditions

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Mitochondrial Myopathies Healthy Controls

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Mitochondrial myopathy

Diagnostic screenings tests

Intervention Type DIAGNOSTIC_TEST

Handgrip test, 12-minute walk test and 6-minute walk test. Biomarkers: acyl-carnitine profile and GDF-15.

Healthy controls

Diagnostic screenings tests

Intervention Type DIAGNOSTIC_TEST

Handgrip test, 12-minute walk test and 6-minute walk test. Biomarkers: acyl-carnitine profile and GDF-15.

Interventions

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Diagnostic screenings tests

Handgrip test, 12-minute walk test and 6-minute walk test. Biomarkers: acyl-carnitine profile and GDF-15.

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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.

Minimum Eligible Age

18 Years

Maximum Eligible Age

75 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes