An observational study in MItochondrial Myopathies, sponsored by Hospices Civils de Lyon. Not yet recruiting at 1 site in France. Open to participants aged Up to 100 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-11-05.
Sponsored by Hospices Civils de Lyon · Observational
Mitochondrial cytopathies are a heterogeneous group of rare inherited diseases characterized by primary mitochondrial dysfunction caused by a pathogenic mutation located either in nuclear DNA or mitochondrial DNA. Mitochondrial cytopathies can virtually begin at any age, affect any tissue or organ, and involve all modes of inheritance (autosomal dominant, autosomal recessive, maternal, etc.).
Muscle stem cells are highly specialized cells that enable skeletal muscle repair after injury. Upon activation, these cells proliferate, differentiate, and fuse to repair damaged muscle fibers. The process by which a myocyte (a differentiated, mononucleated muscle stem cell) fuses with a muscle fiber (i.e., a myofiber) is called myonuclear accretion.
Through work conducted in the investigators' laboratory using preclinical models (cell lines and mouse models), the role of the AMPKα2 signaling pathway in myonuclear accretion has been demonstrated. However, the AMPK pathway is a key regulator of mitochondrial metabolism. The investigators aim to use muscle stem cells derived from muscle biopsies of patients with mitochondrial cytopathies as a model of primary mitochondrial metabolic dysregulation. It is hypothesized that muscle stem cells from these patients exhibit a defect in myonuclear accretion secondary to dysregulation of the AMPKα2 pathway.
Assessing the role of AMPKα2 signaling in the regulation of myonuclear accretion will make it possible to demonstrate that mitochondrial myopathies are not solely a primary pathology of the muscle fiber, but also involve defects in muscle stem cells and in stem cell-myofiber communication. This leads to impaired myonuclear accretion and, ultimately, defective skeletal muscle repair.
This study could open new therapeutic avenues (e.g., pharmacological AMPK activators) for patients with mitochondrial cytopathies, as well as for diseases associated with metabolic dysfunction of muscle stem cells (such as diabetes, obesity, etc.).
46 studies on the registry are indexed under Mitochondrial Myopathies; 14 are open to participants now.
This study's planned enrollment of 12 is below the median of 42 across 15 observational studies indexed under Mitochondrial Myopathies.
Browse Mitochondrial Myopathies studies →Hospices Civils de Lyon is the lead sponsor of 1,866 studies on the registry; 448 are open to participants now.
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Patients with genetically confirmed mitochondrial cytopathy who have undergone a muscle biopsy and donated their myoblasts for research purposes Minimum theoretical headcount = 6 AND Control subjects An equal number of control subjects will be included
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Patients with genetically confirmed mitochondrial cytopathy :
Control subjects :
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
In vitro experimentation and sample analysis
Other: Analysis of signaling pathway : AMPK
In vitro experimentation and sample analysis
Other: Analysis of signaling pathway : AMPK
Confirmation of mitochondrial dysfunction and myonuclear accretion impairment
Metabolic dysfunction
Presence and type of primary metabolic dysfunction in myoblast cells from patients with mitochondrial cytopathy compared with myoblast cells from control patients.
Time frame: Baseline
Plan to share: Undecided
No publications or documents are linked to this record.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
This study is not yet recruiting, as verified in Nov 2026. You cannot join it, but the record below documents what was studied.
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