MItochondrial MyopathiesMITOMYONCT07920562
Role of AMPKalpha2 in Myonuclear Accretion in Mitochondrial Myopathies
An observational study of MItochondrial Myopathies, run by Hospices Civils de Lyon at 1 site in France.
Trial summary
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. Read more about this study
- Who is it for?
- Ages Up to 100 yearsHealthy volunteers can take part
- Conditions the study is for
- MItochondrial Myopathies
- What is being tested?
- Analysis of signaling pathway : AMPK
- How many people
- 12 participants
- Where
- 1 siteFrance
- Study dates
- 1 Jan 2027to 1 Mar 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 100 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: 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
Who may be able to join
- Patients with genetically confirmed mitochondrial cytopathy :
- Patients aged 0 to 100 years at the time of muscle biopsy who have signed consent for the donation of their myoblasts to the Biobank (CRB) for research purposes at the time of the procedure;
- With a genetically confirmed diagnosis of mitochondrial cytopathy (pathogenic variant in nuclear DNA OR mitochondrial DNA);
- Not opposed to the reuse of their personal data for research purposes.
- Control subjects :
- Patients aged 18 to 100 years having undergone orthopedic surgery resulting in discarded surgical tissue OR
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- Patients aged 0 to 100 years at the time of muscle biopsy who have signed consent for the donation of their myoblasts to the Biobank (CRB) for research purposes at the time of the procedure;
- In whom a neuromuscular disorder has been ruled out
- Not opposed to the reuse of their personal data for research purposes.
Who cannot join
- None
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
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.
Read more
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.).
- Conditions
- MItochondrial Myopathies
- Being tested
- Analysis of signaling pathway : AMPK
- Keywords
- AMPKalpha2 pathway, myonuclear accretion
- Medical subject headings
- Mitochondrial Myopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Analysis of signaling pathway : AMPKOther
Confirmation of mitochondrial dysfunction and myonuclear accretion impairment
| Study group | Role | What they receive |
|---|---|---|
| Patients with genetically confirmed mitochondrial cytopathy who have undergone a muscle biopsy and d | In vitro experimentation and sample analysis Receives: Other: Analysis of signaling pathway : AMPK | |
| Control subjects having undergone orthopedic surgery resulting in discarded surgical tissue Or contr | In vitro experimentation and sample analysis Receives: Other: Analysis of signaling pathway : AMPK |
What is being measured
The primary outcome is the main question the study is designed to answer.
Metabolic dysfunction
Presence and type of primary metabolic dysfunction in myoblast cells from patients with mitochondrial cytopathy compared with myoblast cells from control patients.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Nov 2026
- Study start1 Jan 2027 (estimated)
- Primary completion1 Feb 2027 (estimated)
- Study completion1 Mar 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for MItochondrial MyopathiesStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 12 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07920562
- Sponsor's protocol ID
- 25-5472
- Acronym
- MITOMYO
- Status last verified
- Nov 2026
- First submitted
- 2 Nov 2026
- Last updated
- 5 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Role of AMPKalpha2 in Myonuclear Accretion in Mitochondrial Myopathies
- ClinicalTrials.gov ID
- NCT07920562
- Acronym / sponsor ID
- MITOMYO / 25-5472
- Conditions
- MItochondrial Myopathies
- Keywords
- AMPKalpha2 pathway, myonuclear accretion
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 12 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 1 Jan 2027 (estimated)
- Primary completion
- 1 Feb 2027 (estimated)
- Study completion
- 1 Mar 2027 (estimated)
- First posted
- 5 Nov 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.).
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with genetically confirmed mitochondrial cytopathy who have undergone a muscle biopsy and d | – | Other: Analysis of signaling pathway : AMPKIn vitro experimentation and sample analysis |
| Control subjects having undergone orthopedic surgery resulting in discarded surgical tissue Or contr | – | Other: Analysis of signaling pathway : AMPKIn vitro experimentation and sample analysis |
Who may qualify
- Ages
- Up to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 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
Key inclusion criteria (9 listed)
- Patients aged 0 to 100 years at the time of muscle biopsy who have signed consent for the donation of their myoblasts to the Biobank (CRB) for research purposes at the time of the procedure;
- With a genetically confirmed diagnosis of mitochondrial cytopathy (pathogenic variant in nuclear DNA OR mitochondrial DNA);
- Not opposed to the reuse of their personal data for research purposes.
- Patients aged 18 to 100 years having undergone orthopedic surgery resulting in discarded surgical tissue OR
- Patients aged 0 to 100 years at the time of muscle biopsy who have signed consent for the donation of their myoblasts to the Biobank (CRB) for research purposes at the time of the procedure;
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Analysis of signaling pathway : AMPKConfirmation of mitochondrial dysfunction and myonuclear accretion impairment | Other | Control subjects having undergone orthopedic surgery resulting in discarded surgical tissue Or contr, Patients with genetically confirmed mitochondrial cytopathy who have undergone a muscle biopsy and d |
Primary outcome
Metabolic dysfunction
Time frame: Baseline
Presence and type of primary metabolic dysfunction in myoblast cells from patients with mitochondrial cytopathy compared with myoblast cells from control patients.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of MItochondrial Myopathies, run by Hospices Civils de Lyon at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact lola LESSARD (04 72 35 72 18, lola.lessard@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Metabolic dysfunction (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Nov 2026.