Mitochondrial Disease Clinical Trial
Official title:
Calf Muscle Strength in Patients Affected by Mitochondrial Diseases as Compared to Healthy Individuals
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 disorders are highly disabling.
The aim of the study is to investigate the relation between muscle strength and contractile
cross sectional area (CCSA) in the leg of patients affected by mitochondrial diseases. The
hypothesis is that there can be a disrupted relationship between strength and CCSA.
Mitochondrial disorders are a group of inherited disorders caused by mutations in genes
encoding mitochondrial proteins. The proteins are encoded by genes from both the
mitochondrial DNA (mtDNA) and the nucleus, making some of the disorders maternally inherited
and some autosomal recessive or dominant.
The mitochondria are found in almost all cells in the body and are the main source of energy.
The energy is produced through the electron transport chain, which is composed of four multi
subunit complexes (I to IV). A mutation in one or more of these complexes is a typical cause
of a mitochondrial disease.
Since the mitochondria are found in almost every cell, mitochondrial disease can give rise to
symptoms from many organs. The symptoms depend on what kind of mutation the patient has, but
usually includes muscular and neurological problems, as these cells have especially high
energy needs.
It is believed that the muscle weakness in mitochondrial diseases is caused by the reduced
ability to produce energy. However, recent research has suggested that there is a structural
change in the muscles as well. The hypothesis is that this structural change in the muscles
will affect its function.
The aim of the study is to investigate the relation between muscle strength and contractile
cross sectional area (CCSA) in the calf of patients affected by mitochondrial diseases. In
healthy individuals there is a close relation between strength and CCSA, as the strength will
decrease according to a decrease in CCSA. In mitochondrial disease, the hypothesis is that
there can be a disrupted relationship between strength and CCSA.
The investigators will recruit 30 subjects with verified mitochondrial disease, and compare
the results to that of healthy individuals (results from an earlier research project). A
Dixon MRI will be used to find the CCSA of the calf muscle and a muscle dynamometer will be
used to find the strength. These two variables are compared.
;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
NCT02311257 -
Survey on Supplement Use in Mitochondrial Disease
|
N/A | |
| Terminated |
NCT01001585 -
Anesthetic Effects in Mitochondrial Disease
|
N/A | |
| Completed |
NCT01642056 -
EPI-743 for Metabolism or Mitochondrial Disorders
|
Phase 1/Phase 2 | |
| Recruiting |
NCT04419870 -
Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity During the COVID19 Pandemic
|
||
| Completed |
NCT00786539 -
Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases
|
||
| Active, not recruiting |
NCT02000284 -
Mitochondrial Dysfunction in Autism Spectrum Disorder
|
||
| Completed |
NCT04643249 -
Drug-drug Interaction Study of KL1333 in Healthy Subjects
|
Phase 1 | |
| Completed |
NCT02544217 -
A Dose-escalating Clinical Trial With KH176
|
Phase 1 | |
| Completed |
NCT02154711 -
Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease
|
||
| Completed |
NCT01264471 -
Mechanisms of Mitochondrial Defects in Gulf War Syndrome
|
N/A | |
| Completed |
NCT00829270 -
Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques
|
N/A | |
| Completed |
NCT02745938 -
GDF-15 as a Biomarker for Mitochondrial Disease
|
N/A | |
| Enrolling by invitation |
NCT01803906 -
Tissue Sample Study for Mitochondrial Disorders
|
||
| Completed |
NCT01776918 -
Energy Requirements in Mitochondrial Disease
|
N/A | |
| Completed |
NCT01301235 -
Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics in Patients With Mitochondrial Myopathy
|
N/A | |
| Completed |
NCT02985710 -
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
|
N/A | |
| Recruiting |
NCT05241262 -
Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
|
Phase 1 |