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Trial record 19 of 179 for:    "Mitochondrial Diseases" OR "mitochondrial neurogastrointestinal encephalopathy disease"

GDF-15 as a Biomarker for Mitochondrial Disease (GDF-15)

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ClinicalTrials.gov Identifier: NCT02745938
Recruitment Status : Completed
First Posted : April 20, 2016
Last Update Posted : August 17, 2017
Sponsor:
Information provided by (Responsible Party):
Nanna Scharff Nielsen, Rigshospitalet, Denmark

Brief Summary:

Mitochondrial disorders are a group of inherited disorders causing malfunctional mitochondria. Mitochondria are found in every cell of the body, and the disorders therefore give symptoms from every tissue, especially those with high energy needs as the brain, heart and muscles. The symptoms are often unspecific in terms of muscle weakness and fatigue, which delays the first contact to the doctor and further delays the diagnosis.

The aim of this study is to investigate if it is possible to use GDF-15 (Growth and Differentiation Factor 15) as a biomarker for mitochondrial disease and compare the results with that of healthy controls, metabolic myopathies and muscular dystrophies. The concentration relative to exercise will further be investigated.


Condition or disease
Mitochondrial Disease Metabolic Myopathy Muscular Dystrophy

  Show Detailed Description

Study Type : Observational
Actual Enrollment : 97 participants
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: GDF-15 as a Biomarker for Mitochondrial Disease
Study Start Date : June 2016
Actual Primary Completion Date : August 2017
Actual Study Completion Date : August 2017


Group/Cohort
Mitochondrial disease
Patients with mitochondrial disease, investigated by blood samples and exercise test.
Metabolic myopathy
Patients with metabolic myopathy, investigated by blood samples and exercise test.
Muscular dystrophy
Patients with muscular dystrophy, investigated by blood samples and exercise test.
Healthy controls
Healthy controls, investigated by blood samples and exercise test.



Primary Outcome Measures :
  1. GDF-15 concentration in plasma sample at rest. [ Time Frame: One blood sample per subject will be analysed. It takes 5 minutes. ]
    The blood sample will be analysed with a Luminex analyser to determine the concentration of GDF-15.


Secondary Outcome Measures :
  1. GDF-15 concentration in plasma after exercise [ Time Frame: The exercise test takes half an hour. Blood samples will be taken 1, 2, 3, 24 and 48 hours after the exercise test. ]
    The subjects perform an incremental exercise test until exhaustion on a cycle ergometer. The concentration of GDF-15 is measured afterwards with a Luminex analyser.

  2. Other biomarkers of energy metabolism disorders at rest and after exercise test. [ Time Frame: If the blood samples are only taken at rest, the test takes 5 minutes. If an exercise test is done, it takes 48 hours. ]
    Lactate is a muscle marker, that is measured in this study.

  3. Other biomarkers of energy metabolism disorders at rest and after exercise test. [ Time Frame: If the blood samples are only taken at rest, the test takes 5 minutes. If an exercise test is done, it takes 48 hours. ]
    Pyruvate is a muscle marker, that is measured in this study.

  4. Other biomarkers of energy metabolism disorders at rest and after exercise test. [ Time Frame: If the blood samples are only taken at rest, the test takes 5 minutes. If an exercise test is done, it takes 48 hours. ]
    Creatin kinase is a muscle marker, that is measured in this study.

  5. Other biomarkers of energy metabolism disorders at rest and after exercise test. [ Time Frame: If the blood samples are only taken at rest, the test takes 5 minutes. If an exercise test is done, it takes 48 hours. ]
    FGF-21 (Fibroblast Growth Factor 21) is a muscle marker that is measured in this study.

  6. Maximal oxidative capacity (VO2max) [ Time Frame: The test takes half an hour per subject. ]
    During the exercise test, the subjects will breath through a mask, that is connected to a machine. The machine is able to calculate the VO2max.

  7. Maximal workload capacity (Wmax) [ Time Frame: The test takes half an hour per subject. ]
    The Wmax will be calculated during the exercise test.


Biospecimen Retention:   Samples With DNA
Blood samples


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Ages Eligible for Study:   15 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Four groups are studied:

  1. Patients with mitochondrial disease.
  2. Patients with metabolic myopathy.
  3. Patients with muscular dystrophy.
  4. Healthy controls.
Criteria

Criteria for subjects with mitochondrial disease, metabolic myopathy or muscle dystrophy:

Inclusion Criteria:

  • Verified mitochondrial disease, metabolic myopathy or muscular dystrophy.

Exclusion Criteria:

  • Other muscle disorders.
  • Heart failure or significantly reduced kidney or lung function.
  • Contraindications for exercise test, e.g. serious heart and lung disease. The investigator will decide whether or not it is possible for the subject to participate (Only for the subjects doing an exercise test.).

Criteria for healthy individuals:

Inclusion Criteria:

None (except age > 15 years).

Exclusion Criteria:

  • Any muscle disorder
  • Heart failure
  • Contraindications for exercise test, e.g. serious heart and lung disease. The investigator will decide whether or not it is possible for the subject to participate (Only when participating in the exercise test).

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02745938


Locations
Denmark
Rigshospitalet
Copenhagen, Copenhagen East., Denmark, 2100
Sponsors and Collaborators
Rigshospitalet, Denmark
Investigators
Principal Investigator: Nanna S. Nielsen, B.Sc. Copenhagen Neuromuscular Center

Publications:

Responsible Party: Nanna Scharff Nielsen, Student researcher, Rigshospitalet, Denmark
ClinicalTrials.gov Identifier: NCT02745938     History of Changes
Other Study ID Numbers: H-16023953
First Posted: April 20, 2016    Key Record Dates
Last Update Posted: August 17, 2017
Last Verified: August 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: No plan

Keywords provided by Nanna Scharff Nielsen, Rigshospitalet, Denmark:
Exercise test
GDF-15
Growth and Differentiation Factor 15

Additional relevant MeSH terms:
Muscular Dystrophies
Mitochondrial Diseases
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Metabolic Diseases