Muscular DystrophyReSOLVE_FranceNCT04038138
Clinical Trial Readiness Network FSHD France: Prospective 24 Months MRI Study
A study testing Validation of new COA for FSHD patients in people with Muscular Dystrophy and Facioscapulohumeral, run by Centre Hospitalier Universitaire de Nice at 3 sites in France.
Trial summary
The overall aim of this study is to hasten drug development for facioscapulohumeral muscular dystrophy (FSHD). Recent breakthroughs in FSHD research have identified the primary disease mechanism as the aberrant expression of a normally silenced gene, DUX4, resulting in a toxic gain-of-function. Read more about this study
- Who is it for?
- Ages 18 to 75 years
- Conditions the study is for
- Muscular Dystrophy, Facioscapulohumeral
- What is being tested?
- Validation of new COA for FSHD patients
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 100 participants
- Where
- 3 sitesFrance
- Study dates
- 16 Sep 2019to 3 Sep 2026
- Phase
- Interventional
- 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 18 to 75 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Genetically confirmed FSHD1 or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring 63
- Age 18-75 years
- Symptomatic limb weakness
- Patient able to walk alone or with a walking aid.
- Manual Muscle Testing (MMT) score ≥ 4 for one of the lower limb muscles
- Patient affiliated to the social security system
- Patient giving written consent after written and oral information.
- If taking over the counter supplements willing to remain consistent with supplement regimen throughout the course of the study
Who cannot join
- Cardiac or respiratory dysfunction (deemed clinically unstable, or would interfere with safe testing in the opinion of the Investigator)
- Orthopedic conditions that preclude safe testing of muscle function
- Regular use of available muscle anabolic/catabolic agents such as corticosteroids, oral testosterone or derivatives, or oral beta agonists
- Use of an experimental drug in an FSHD clinical trial within the past 30 days
- Pregnancy.
- Contraindication for muscle MRI
- Any major comorbidity
Trial locations and contacts
3 sites in 1 country.
France3 sites
CHRU de Lille
Lille, Hauts-de-France, 59000
CHU de Nice
Nice, Provence-Alpes-Côte d'Azur Region, 06000
Myology institute Association
Paris, Île-de-France Region, 75013
About this study
The overall aim of this study is to hasten drug development for facioscapulohumeral muscular dystrophy (FSHD). Recent breakthroughs in FSHD research have identified the primary disease mechanism as the aberrant expression of a normally silenced gene, DUX4, resulting in a toxic gain-of-function. This disease mechanism is particularly amenable to knock-down of DUX4 using epigenetic strategies or RNA therapies, as well as to other interventions targeting the downstream effects of DUX4 expression. There are many drug companies actively working towards disease-targeted therapies, and two clinical trials either under way now, or planned to start in early Fall 2016. However, meetings with industry, advocacy groups, and FSHD researchers have identified several gaps in the clinical trial arsenal, and clinical trial planning as a major goal for the community. Consequently, there is an urgent need to establish the tools necessary for the conduct of currently planned and expected therapeutic trials in FSHD.
To this end, the researchers propose to develop two novel clinical outcome assessments (COA), a composite functional outcome measure (FSH-COM) and skeletal muscle biomarker, electrical impedance myography (EIM). In addition there is broad consensus a better understanding of the relationship of genetic and demographic features to disease progression will be necessary for enumerating eligibility criteria.
The specific aims are to: 1. Determine the multi-site validity of the COAs, 2. Compare the responsiveness of new COAs to other FSHD outcomes and determine the minimal clinically meaningful changes, and 3. establish FSHD cohort characteristics useful for determining clinical trial eligibility criteria. To achieve these aims, the Nice University Hospital is conducting a monocentric, prospective, 18 month study on 30 subjects.
- Conditions
- Muscular Dystrophy, Facioscapulohumeral
- Being tested
- Validation of new COA for FSHD patients
- Medical subject headings
- Muscular Dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Validation of new COA for FSHD patientsDiagnostic test
Monitoring of commonly used and news COA in patients with facioscapulohumeral muscular dystrophy
| Study group | Role | What they receive |
|---|---|---|
| Patient with facioscapulohumeral muscular dystrophy | Experimental | Not described Receives: Diagnostic Test: Validation of new COA for FSHD patients |
What is being measured
The primary outcome is the main question the study is designed to answer.
Validate FSHD-COM in French as COA
The FSHD-COM is an 18-item evaluator-administered instrument comprised of individually validated functional motor tasks. The body regions represented match areas of importance identified by patients and include: leg function; shoulder and arm function; trunk function, hand function; and balance. Each item is scored on a 0-4 scale, with 0 representing unaffected/normal performance, and the divisions based on healthy population normative values, or the relative degree of ability to perform the functional task. The total scale has 72 points, with larger weight given to the two most frequently patient-cited areas of functional motor concern - leg function and shoulder and arm function.
Measured: at baseline, 12, 18 and 24 months
Validate optimized Timed Up and Go Test (optimized TUG) as COA
Balance and mobility in patients able to walk at most 30 meters will be assessed using the optimized Timed Up and Go test (TUG). The optimized TUG test measures, in seconds, the time taken by patient to sit up from a lying down position (1st time interval); stand up from the mat (approximate height of 46 cm, walk 3 meters, turn, walk back to the mat, sit down (2nd time interval); and lie down to return to starting position (3rd time interval).
Measured: at baseline, 12, 18 and 24 months
Secondary outcomes (15)
Change of the Motor Function Measure-32 (MFM-32) from Baseline to 12, 18 and 24 months
Within MFM-32, 32 terms will be evaluated to describe patient's motor functions and grouped into 3 sub-scores at baseline, 6, 12 and 24 months:
D1: standing position and transfer D2: axial and proximal motor function D3: distal motor function The MFM-32 ratings rely on the use of a 4-point Likert scale based on the subject's maximal abilities without assistance (0: cannot initiate the task or maintain the starting position; 1: performs the task partially; 2: performs the task incompletely or imperfectly; 3: performs the task fully and normally.)
Measured: at baseline, 12, 18 and 24 months
Validate the Severity Scores (CSS) as COA
A limited physical exam and strength testing will be used to derive a FSHD clinical severity score. The severity score ranks weakness in the face, shoulders, arms, distal, and proximal lower extremities on a 10 point scale.
Measured: at baseline, 12, 18 and 24 months
Validate the Severity Scores (FCS) as COA
A limited physical exam and strength testing will be used to derive a FSHD clinical severity score. The severity score ranks weakness in the face, shoulders, arms, distal, and proximal lower extremities on a 15 point scale.
Measured: at baseline, 12, 18 and 24 months
Change of the Manual Muscle Testing (MMT) from Baseline to 12, 18 and 24 months
The Manual Muscle Testing is a modified Medical Research Council 13-point and is used with standardized positions for each grade and each muscle following the recommendations of the FSH-DY Group. Shoulder abduction and flexion, elbow flexion and extension, wrist flexion and extension, fingers flexion and extension, hip flexion and abd/adduction, knee flexion and extension, ankle plantarflexion and dorsiflexion strength will be measured bilaterally
Measured: at baseline, 12, 18 and 24 months
Validate the Quantitative Muscle Testing (QMT) as COA
Quantitative Muscle Assessment is performed using a fixed myometry testing system, with a force transducer attached by an inelastic strap to a metal frame.
Measured: at baseline, 12, 18 and 24 months
Validate the fall and exercice questionnaire as COA
A fall and exercise questionnaire will assess average monthly falls and near falls, and average weekly amount of exercise. A fall assessment will be completed weekly for 3 months after the first visit. Subjects will be asked to respond to a call every week, for 12 consecutive weeks, that asks about any falls they have had over the past week.
Measured: at baseline, 12, 18 and 24 months
Validate the work questionnaire as COA
The work questionnaire is a standard questionnaire asking about the effect of FSHD on work/occupation.
Measured: at baseline, 12, 18 and 24 months
Validate the Patient-Reported Outcomes Measurement Information System-57 (PROMIS57) as COA
The PROMIS57 is an instrument developed by the NIH PROMIS initiative. It generates scores for physical function, and the impact of physical limitations on daily life.
Measured: at baseline, 18 and 24 months
Validate the Upper Extremity Functional Index 15 (UEFI15) as COA
The Upper Extremity Functional Index 15 (UEFI15) is a validated patient reported measure for adults with upper extremity dysfunction. This index measures upper extremity dysfunction. 20 questions are combined into a total score, the score is transformed into a normalized score with 80 representing normal, and lower scores representing increasing disability.
Measured: at baseline, 18 and 24 months
Validate the Facial Disability Index (FDI) as COA
The Facial Disability Index (FDI) is a short 5 items questionnaire which assesses the physical impact of facial weakness. The five questions are summed into total score which transformed onto a percentage scale, with 100 representing normal, and lower scores representing increasing disability.
Measured: at baseline, 18 and 24 months
Validate the Iowa Oral Performance Instrument (IOPI) as COA
IOPI is a means to quantify lip, tongue, and buccal strength using a validated tool with published ranges for normative data for lingual measurements.
Measured: at baseline, 12, 18 and 24 months
Validate Muscle Magnetic Resonance Imaging (MRI) as COA
Muscle MRI studies will be performed on a 1.5 Tesla equipment at baseline,12 and 24 months
Measured: at baseline, 12 and 24 months
Change of the respiratory function (sitting and bedside spirometry) from Baseline to 12, 18 and months
Sitting and bedside spirometry allow to obtain forced vital capacity and forced respiratory volume in 1 second, two standardized outcomes commonly used to evaluate respiratory function in clinical follow up and clinical trials.
Measured: at baseline, 12, 18 and 24 months
Validate the Sydney Swallow Questionnaire (SSQ) as COA
The Sydney Swallow Questionnaire (SSQ) is a 17 question, self-report inventory, which was developed to measure symptomatic severity of oral-pharyngeal dysphagia as reported by the affected patient. The questionnaire uses a 100mm long visual analogue scale (VAS) for all but one question.
Measured: at baseline, 18 and 24 months
Validate the Multidimensional Dyspnea Profile (MDP) as COA
The Multidimensional Dyspnea Profile (MDP) is a questionnaire which assesses overall breathing discomfort, sensory qualities, and emotional responses in laboratory and clinical settings. The MDP assesses dyspnea during a specific time or a particular activity (focus period) and is designed to examine individual items that are theoretically aligned with separate mechanisms.
Measured: at baseline, 18 and 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Jul 2019
- Study start16 Sep 2019
- Primary completion3 Sep 2025
- Study completion3 Sep 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Muscular DystrophyStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire de NiceThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 100 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nice
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04038138
- Sponsor's protocol ID
- 19-PP-04
- Acronym
- ReSOLVE_France
- Status last verified
- Nov 2025
- First submitted
- 26 Jul 2019
- Last updated
- 3 Dec 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Pini J, Martinuzzi E, Dhifallah S, Slioui A, Puma A, Villa L, Cavalli M, Ezaru A, Garcia J, Gambella M, Torre F, Pavan LJ, Glaichenhaus N, Sacconi S. Interleukin-6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses. Ann Clin Transl Neurol. 2026 Feb;13(2):310-323. doi: 10.1002/acn3.70210. Epub 2025 Oct 7.
PubMed 41058127
Study at a glance
From the registry record, last updated by the sponsor on 3 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Trial Readiness Network FSHD France: Prospective 24 Months MRI Study
- ClinicalTrials.gov ID
- NCT04038138
- Acronym / sponsor ID
- ReSOLVE_France / 19-PP-04
- Conditions
- Muscular Dystrophy, Facioscapulohumeral
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 100 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de NiceUniversity, hospital or other
- Study start
- 16 Sep 2019 (actual)
- Primary completion
- 3 Sep 2025 (actual)
- Study completion
- 3 Sep 2026 (estimated)
- First posted
- 30 Jul 2019 (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 overall aim of this study is to hasten drug development for facioscapulohumeral muscular dystrophy (FSHD). Recent breakthroughs in FSHD research have identified the primary disease mechanism as the aberrant expression of a normally silenced gene, DUX4, resulting in a toxic gain-of-function. This disease mechanism is particularly amenable to knock-down of DUX4 using epigenetic strategies or RNA therapies, as well as to other interventions targeting the downstream effects of DUX4 expression. There are many drug companies actively working towards disease-targeted therapies, and two clinical trials either under way now, or planned to start in early Fall 2016. However, meetings with industry, advocacy groups, and FSHD researchers have identified several gaps in the clinical trial arsenal, and clinical trial planning as a major goal for the community. Consequently, there is an urgent need to establish the tools necessary for the conduct of currently planned and expected therapeutic trials in FSHD.
To this end, the researchers propose to develop two novel clinical outcome assessments (COA), a composite functional outcome measure (FSH-COM) and skeletal muscle biomarker, electrical impedance myography (EIM). In addition there is broad consensus a better understanding of the relationship of genetic and demographic features to disease progression will be necessary for enumerating eligibility criteria.
The specific aims are to: 1. Determine the multi-site validity of the COAs, 2. Compare the responsiveness of new COAs to other FSHD outcomes and determine the minimal clinically meaningful changes, and 3. establish FSHD cohort characteristics useful for determining clinical trial eligibility criteria. To achieve these aims, the Nice University Hospital is conducting a monocentric, prospective, 18 month study on 30 subjects.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patient with facioscapulohumeral muscular dystrophy | Experimental | Diagnostic Test: Validation of new COA for FSHD patients |
Who may qualify
- Ages
- 18 to 75 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (8 listed)
- Genetically confirmed FSHD1 or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring 63
- Age 18-75 years
- Symptomatic limb weakness
- Patient able to walk alone or with a walking aid.
- Manual Muscle Testing (MMT) score ≥ 4 for one of the lower limb muscles
Key exclusion criteria (7 listed)
- Cardiac or respiratory dysfunction (deemed clinically unstable, or would interfere with safe testing in the opinion of the Investigator)
- Orthopedic conditions that preclude safe testing of muscle function
- Regular use of available muscle anabolic/catabolic agents such as corticosteroids, oral testosterone or derivatives, or oral beta agonists
- Use of an experimental drug in an FSHD clinical trial within the past 30 days
- Pregnancy.
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 |
|---|---|---|
| Validation of new COA for FSHD patientsMonitoring of commonly used and news COA in patients with facioscapulohumeral muscular dystrophy | Diagnostic test | Patient with facioscapulohumeral muscular dystrophy |
Primary outcome
Validate FSHD-COM in French as COA
Time frame: at baseline, 12, 18 and 24 months
The FSHD-COM is an 18-item evaluator-administered instrument comprised of individually validated functional motor tasks. The body regions represented match areas of importance identified by patients and include: leg function; shoulder and arm function; trunk function, hand function; and balance. Each item is scored on a 0-4 scale, with 0 representing unaffected/normal performance, and the divisions based on healthy population normative values, or the relative degree of ability to perform the functional task. The total scale has 72 points, with larger weight given to the two most frequently patient-cited areas of functional motor concern - leg function and shoulder and arm function.
Validate optimized Timed Up and Go Test (optimized TUG) as COA
Time frame: at baseline, 12, 18 and 24 months
Balance and mobility in patients able to walk at most 30 meters will be assessed using the optimized Timed Up and Go test (TUG). The optimized TUG test measures, in seconds, the time taken by patient to sit up from a lying down position (1st time interval); stand up from the mat (approximate height of 46 cm, walk 3 meters, turn, walk back to the mat, sit down (2nd time interval); and lie down to return to starting position (3rd time interval).
15 secondary outcomes
Change of the Motor Function Measure-32 (MFM-32) from Baseline to 12, 18 and 24 months
Time frame: at baseline, 12, 18 and 24 months
Validate the Severity Scores (CSS) as COA
Time frame: at baseline, 12, 18 and 24 months
Validate the Severity Scores (FCS) as COA
Time frame: at baseline, 12, 18 and 24 months
Change of the Manual Muscle Testing (MMT) from Baseline to 12, 18 and 24 months
Time frame: at baseline, 12, 18 and 24 months
Validate the Quantitative Muscle Testing (QMT) as COA
Time frame: at baseline, 12, 18 and 24 months
Validate the fall and exercice questionnaire as COA
Time frame: at baseline, 12, 18 and 24 months
Validate the work questionnaire as COA
Time frame: at baseline, 12, 18 and 24 months
Validate the Patient-Reported Outcomes Measurement Information System-57 (PROMIS57) as COA
Time frame: at baseline, 18 and 24 months
Validate the Upper Extremity Functional Index 15 (UEFI15) as COA
Time frame: at baseline, 18 and 24 months
Validate the Facial Disability Index (FDI) as COA
Time frame: at baseline, 18 and 24 months
Validate the Iowa Oral Performance Instrument (IOPI) as COA
Time frame: at baseline, 12, 18 and 24 months
Validate Muscle Magnetic Resonance Imaging (MRI) as COA
Time frame: at baseline, 12 and 24 months
Change of the respiratory function (sitting and bedside spirometry) from Baseline to 12, 18 and months
Time frame: at baseline, 12, 18 and 24 months
Validate the Sydney Swallow Questionnaire (SSQ) as COA
Time frame: at baseline, 18 and 24 months
Validate the Multidimensional Dyspnea Profile (MDP) as COA
Time frame: at baseline, 18 and 24 months
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 3 Dec 2025.
- Derived from this study: PubMed 41058127Pini J, Martinuzzi E, Dhifallah S, Slioui A, Puma A, Villa L, Cavalli M, Ezaru A, Garcia J, Gambella M, Torre F, Pavan LJ, Glaichenhaus N, Sacconi S. Interleukin-6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses. Ann Clin Transl Neurol. 2026 Feb;13(2):310-323. doi: 10.1002/acn3.70210. Epub 2025 Oct 7.
Related trials for Muscular Dystrophy
RecruitingPhase 3
Efficacy, Safety, and Tolerability of Zeleciment Basivarsen (DYNE-101) in Participants With Myotonic Dystrophy Type 1
Myotonic Dystrophy Type 1 (DM1), DM1
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
RecruitingEarly Phase 1
Safety and Dystrophin Expression of SPOT-03 in Duchenne Muscular Dystrophy (DMD) Patients
Duchenne Muscular Dystrophy (DMD)
RecruitingObservational study
Preclinical Assessment of an Engineered HMGB1 Protein as a Novel Companion Therapy for Muscular Dystrophies
LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)
RecruitingPhase 2
Safety and Efficacy of KER-065 in Participants With Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy
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.
The record lists no contact. Use the official record to reach the sponsor.
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Validation of new COA for FSHD patients in people with Muscular Dystrophy and Facioscapulohumeral, run by Centre Hospitalier Universitaire de Nice at 3 sites 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 8 inclusion and 7 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: under way, not looking for participants, as of the sponsor's last update on 3 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Validate FSHD-COM in French as COA (time frame: at baseline, 12, 18 and 24 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04038138, which also lists 1 linked publication.
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 3 Dec 2025.