Facioscapulohumeral Muscular DystrophyMETIN-FSHDNCT06086548
Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics
An observational study of Facioscapulohumeral Muscular Dystrophy, run by University Hospital, Angers.
Trial summary
The pathogenesis of facioscapulohumeral dystrophy (FSHD), one of the most prevalent types of inherited muscle disease, is unknown. The reasons underlying its significant clinical heterogeneity, incomplete penetrance, and sex specific differences in the age of onset, are not currently understood. Read more about this study
- Who is it for?
- Ages 18 to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- Facioscapulohumeral Muscular Dystrophy
- What is being tested?
- metabolomic on plasma sample
- How many people
- 120 participants
- Where
- No sites listed yet
- Study dates
- Jan 2024to Mar 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
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 18 to 60 years
- All sexes
- Healthy volunteers accepted
- Adult
Study population: Recruitment of participants will be conducted at Centre Hospitalier Universitaire d'Angers. All subjects will be clinically evaluated on the basis of the CCEF evaluation protocol. Informed consent will be obtained according to the declaration of Helsinki by each participant after explanations on the research protocol and scientific aims. Patients will be excluded when they have other disorders that will influence the measurements. Age- and sex-matched healthy subjects will be included through specific calls depending on age.
Who may be able to join
- participant fasting for at least 8 h at the time of blood sampling
- patient with a molecular diagnosis of FSHD (know number of D4Z4 contractions)
- patient with a typical FSHD presentation (at least facial, pelvic ans scapular girdles signs)
- patient with a preserved ability to ambulate at the time of the selection (use of a cane is allowed)
Who cannot join
- Severe cardiac and respiratory dysfunction.
- Presence of severe systemic diseases unrelated to FSHD.
- Presence of uncontrolled diabetes or hypothyroidism.
- Alcohol or toxic abuse.
Trial locations and contacts
No sites are listed yet.
About this study
The pathogenesis of facioscapulohumeral dystrophy (FSHD), one of the most prevalent types of inherited muscle disease, is unknown. The reasons underlying its significant clinical heterogeneity, incomplete penetrance, and sex specific differences in the age of onset, are not currently understood. While metabolic changes associated with this disease have so far deserved little attention, recent studies have pinpointed significant metabolic dysregulation as an emerging driving mechanism in the pathophysiology of this untreatable disease. To test this hypothesis, we will perform a deep metabolic phenotyping in a large cohort of highly clinically characterized FSHD patients at different stage of disease and age/sex-matched controls by state-of-art plasma metabolomic and mitochondrial biomarker profiling. These data will allow attributing specific metabolomic signatures to different stages of the disease in each sex. Metabolic pathway analysis will allow gaining insights into the type of metabolic dysregulation associated with the disease pathogenesis, leading to the identification of targeted metabolic/nutritional interventions and biomarker discovery.
- Conditions
- Facioscapulohumeral Muscular Dystrophy
- Being tested
- metabolomic on plasma sample
- Medical subject headings
- Muscular Dystrophy, Facioscapulohumeral
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
metabolomic on plasma sampleOther
metabolic phenotyping by plasma metabolomic and mitochondrial biomarker profiling
| Study group | Role | What they receive |
|---|---|---|
| cases | patients with molecular diagnosis of facioscapulohumeral dystrophy Receives: Other: metabolomic on plasma sample | |
| controls | healthy volunteers Receives: Other: metabolomic on plasma sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
metabolic profiling
to perform a detailed metabolic profiling by state-of-art plasma metabolomic coupled to the analysis of GDF15 and FGF21, two recently established biomarkers of mitochondrial dysfunction, in symptomatic FSHD patients of different clinical severity compared to controls
Measured: results should be obtained within 3 months following the inclusion of the last participant
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Oct 2023
- Study startJan 2024 (estimated)
- Primary completionJan 2026 (estimated)
- Study completionMar 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Facioscapulohumeral Muscular DystrophyStudies of the same condition, open and under way.
- More trials run by University Hospital, AngersThe 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
- Case-control
- Time perspective
- Retrospective
- Enrolment
- 120 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Angers
- Sponsor type
- Other government
- Collaborators
- University of Modena and Reggio Emilia, Federico II University
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06086548
- Sponsor's protocol ID
- 49RC23_0340
- Acronym
- METIN-FSHD
- Status last verified
- Oct 2023
- First submitted
- 11 Oct 2023
- Last updated
- 17 Oct 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Oct 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics
- ClinicalTrials.gov ID
- NCT06086548
- Acronym / sponsor ID
- METIN-FSHD / 49RC23_0340
- Conditions
- Facioscapulohumeral Muscular Dystrophy
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 120 participants (estimated)
- Lead sponsor
- University Hospital, AngersOther government
- Collaborators
- University of Modena and Reggio Emilia, Federico II University
- Study start
- Jan 2024 (estimated)
- Primary completion
- Jan 2026 (estimated)
- Study completion
- Mar 2026 (estimated)
- First posted
- 17 Oct 2023 (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.
The pathogenesis of facioscapulohumeral dystrophy (FSHD), one of the most prevalent types of inherited muscle disease, is unknown. The reasons underlying its significant clinical heterogeneity, incomplete penetrance, and sex specific differences in the age of onset, are not currently understood. While metabolic changes associated with this disease have so far deserved little attention, recent studies have pinpointed significant metabolic dysregulation as an emerging driving mechanism in the pathophysiology of this untreatable disease. To test this hypothesis, we will perform a deep metabolic phenotyping in a large cohort of highly clinically characterized FSHD patients at different stage of disease and age/sex-matched controls by state-of-art plasma metabolomic and mitochondrial biomarker profiling. These data will allow attributing specific metabolomic signatures to different stages of the disease in each sex. Metabolic pathway analysis will allow gaining insights into the type of metabolic dysregulation associated with the disease pathogenesis, leading to the identification of targeted metabolic/nutritional interventions and biomarker discovery.
Study design
- Observational model
- Case-control
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| cases | – | Other: metabolomic on plasma samplepatients with molecular diagnosis of facioscapulohumeral dystrophy |
| controls | – | Other: metabolomic on plasma samplehealthy volunteers |
Who may qualify
- Ages
- 18 to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
- Study population
- Recruitment of participants will be conducted at Centre Hospitalier Universitaire d'Angers. All subjects will be clinically evaluated on the basis of the CCEF evaluation protocol. Informed consent will be obtained according to the declaration of Helsinki by each participant after explanations on the research protocol and scientific aims. Patients will be excluded when they have other disorders that will influence the measurements. Age- and sex-matched healthy subjects will be included through specific calls depending on age.
Key inclusion criteria (4 listed)
- participant fasting for at least 8 h at the time of blood sampling
- patient with a molecular diagnosis of FSHD (know number of D4Z4 contractions)
- patient with a typical FSHD presentation (at least facial, pelvic ans scapular girdles signs)
- patient with a preserved ability to ambulate at the time of the selection (use of a cane is allowed)
Key exclusion criteria (4 listed)
- Severe cardiac and respiratory dysfunction.
- Presence of severe systemic diseases unrelated to FSHD.
- Presence of uncontrolled diabetes or hypothyroidism.
- Alcohol or toxic abuse.
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 |
|---|---|---|
| metabolomic on plasma samplemetabolic phenotyping by plasma metabolomic and mitochondrial biomarker profiling | Other | cases, controls |
Primary outcome
metabolic profiling
Time frame: results should be obtained within 3 months following the inclusion of the last participant
to perform a detailed metabolic profiling by state-of-art plasma metabolomic coupled to the analysis of GDF15 and FGF21, two recently established biomarkers of mitochondrial dysfunction, in symptomatic FSHD patients of different clinical severity compared to controls
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Oct 2023.
- Individual participant dataSharing planned: No
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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. This study is not recruiting at the moment.
Questions about this trial
What is this clinical trial studying?
An observational study of Facioscapulohumeral Muscular Dystrophy, run by University Hospital, Angers.
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 4 inclusion and 4 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: status not confirmed, as of the sponsor's last update on 17 Oct 2023. Status can change between updates, so confirm with the study contact before making plans.
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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Marco Spinazzi, MD, PhD (+33 (0)2 41 35 51 19, Marco.Spinazzi@chu-angers.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
metabolic profiling (time frame: results should be obtained within 3 months following the inclusion of the last participant). 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 17 Oct 2023.