Facioscapulohumeral Muscular DystrophyADVANCEDNCT05453461
ADVANCED FSHD-COM: New Clinical Outcome Measures to Evaluate Non-ambulant FSHD Patients, a Pilot Study
A study testing Validation of new COMs for non ambulant FSHD patients in people with Facioscapulohumeral Muscular Dystrophy, run by Centre Hospitalier Universitaire de Nice at 1 site in France.
Trial summary
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common adult muscular dystrophy with an estimated prevalence range of 2-7 per 100,000. The disease is characterized by slowly progressive, asymmetric muscle weakness that starts with the face and scapular muscles. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Facioscapulohumeral Muscular Dystrophy
- What is being tested?
- Validation of new COMs for non ambulant FSHD patients
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 30 participants
- Where
- 1 siteFrance
- Study dates
- 3 Apr 2023to Apr 2027
- 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 years and older
- 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
- Age 18-75 years
- Symptomatic limb weakness
- FSHD patients who use the wheelchair daily and are able to stand or to walk at most 30 meters with assistance, and wheelchair-bound patients who are unable to walk.
- Clinical severity score (CSS) ≥ 8
- 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
- Patients with comorbidity not related to the disease that can modify the natural evolution of the disease or would interfere with safe testing in the opinion of the Investigator
- 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
- Vulnerable person (person deprived of their administrative and legal liberty, hospitalized person for other purposes than research)
Trial locations and contacts
1 site in 1 country.
About this study
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common adult muscular dystrophy with an estimated prevalence range of 2-7 per 100,000. The disease is characterized by slowly progressive, asymmetric muscle weakness that starts with the face and scapular muscles. It causes significant lifetime morbidity, with up to 20% of patients eventually requiring full-time wheelchair use. However, there is a large degree of clinical variability in both disease progression and severity. This makes predicting an individual's disease course difficult and has made clinical trial design challenging.
The disease is caused by the aberrant expression of a normally silenced gene, DUX4, which causes disease by a toxic gain-of-function. The establishment of a unifying model for the cause of FSHD made it possible to develop disease-specific targeted treatments. Pharmaceutical companies are actively investigating therapeutic approaches in order to knockdown or silence DUX4, including the use of antisense RNA oligonucleotides which is already investigated for spinal muscular atrophy, Duchenne muscular dystrophy, and myotonic dystrophy. The drug development pipeline for FSHD over the next 5 years looks promising but meetings with industry, advocacy groups, and FSHD scientific experts have identified several gaps that need to be addressed to accelerate efficient drug development. As drugs move from preclinical testing into human trials, it is essential to validate clinical trial tools and methodologies to facilitate drug development. There is a strong need for clinical outcome measures (COMs) including biomarkers, strength outcomes, functional measures and patient reported outcomes to follow disease progression and to evaluate treatment efficacy.
A large international multicenter study is currently ongoing in order to validate COMs in ambulant FSHD patients (ReSolve, NCT03458832). Additionally, Nice University Hospital is conducting an ancillary study (CTRL FSHD France, NCT04038138) to evaluate muscle MRI, an additional emerging biomarker, to follow disease progression in the same patient population. To limit patient heterogeneity, only ambulant FSHD patients are included in these 2 ongoing studies. It is therefore important to generate data in severely affected non-ambulant FSHD patients, in order to validate COMs that are adapted to this specific subgroup of patients for future therapeutic trials.
- Conditions
- Facioscapulohumeral Muscular Dystrophy
- Being tested
- Validation of new COMs for non ambulant FSHD patients
- 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.
Validation of new COMs for non ambulant FSHD patientsDiagnostic test
Monitoring of commonly used and news COMs in non ambulant patients with facioscapulohumeral muscular dystrophy
| Study group | Role | What they receive |
|---|---|---|
| new COMs for non ambulant FSHD patients | Experimental | Not described Receives: Diagnostic Test: Validation of new COMs for non ambulant FSHD patients |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change of the Motor Function Measure-32 (MFM-32) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
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, 6, 12 and 24 months
Change of the Manual Muscle Testing (MMT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
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, 6, 12 and 24 months
Change of the Hand-Held dynamometry (HHD) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Hand-Held dynamometry (HHD) assess the isometric muscle strength in both the upper and lower limbs bilaterally (global shoulder abduction and flexion, elbow flexion and extension, hip abduction, knee extension, ankle dorsiflexion isometric strength). The required equipment is a calibrated hand-held dynamometer (MicroFet). The patient has to push against the hand-held dynamometer 3 times as hard as he can for 3-5 seconds. The maximal value will be kept for further analysis.
Measured: at baseline, 6, 12 and 24 months
Change of the Pinch and Grip test from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
The purpose of those tests is to measure the maximum isometric strength of the hand and forearm muscles when doing a grasping or a pinching action. The equipment required for the grip and the pinch tests is a calibrate dynamometer. The subject should be strongly encouraged to give a maximum effort. We record three trials for each hand, alternating hands with at least 30 seconds recovery between each effort. We keep the best result.
Measured: at baseline, 6, 12 and 24 months
Secondary outcomes (21)
Change of the 9-Hole Peg test (9-HPT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
The 9-Hole Peg Test is used to measure finger dexterity. The patient is seated at a table with a small, shallow container holding 9 pegs and a wood or plastic block containing nine empty holes. When a stopwatch is started, the patient picks up the 9 pegs one at a time as quickly as possible, puts them in the 9 holes, and, once they are in the holes, removes them again as quickly as possible one at a time, replacing them into the shallow container. The total time to put the pegs and to remove them (one lap) will be recorded, 3 times alternating hands. The best trial will be registered for both hands.
Measured: at baseline, 6, 12 and 24 months
Change of the repeated 9-Hole Peg test (r9-HPT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
The repeated 9-Hole Peg test (r9-HPT) est a fatigability test. The same procedure like 9-HPT is repeated 5 times (5 laps) with the same hand. The total time to complete the r9-HPT is recorded and the ratio "last lap/first lap" is calculated. The patient will choose the tested hand.
Measured: at baseline, 6, 12 and 24 months
Change of the classic Timed Up and Go test (classic TUG) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Balance and mobility in patients able to walk at most 30 meters will be assessed using the classic Timed Up and Go test (TUG). The classic TUG measures, in seconds, the time taken by a patient to stand up from a standard armchair (approximate seat height of 46 cm, arm height 65 cm), walk 3 meters, turn, walk back to the chair, and sit down. The best performance will be recorded.
Measured: at baseline, 6, 12 and 24 months
Change of the optimized Timed Up and Go test (classic TUG) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
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, 6, 12 and 24 months
Change of the Sit Up test (SiUT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
The SiUT measures, in seconds, the time taken by a patient to sit up from a lying down position and to return to the initial position.
Measured: at baseline, 6, 12 and 24 months
Change of the repeated Sit Up test (r-SiUT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
The r-SiUT measures, in seconds, the time taken by a patient to sit up from a lying down position and to return to the initial position (1 lap). This task is repeated 5 times (5 laps). The total time to complete the trial is recorded and the ratio last lap/first lap is calculated.
Measured: at baseline, 6, 12 and 24 months
Change of the Stand Up test (SaUT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
The SaUT measures, in seconds, the time taken by a patient to stand up from a standard armchair (approximate seat height of 46 cm, arm height 65 cm) and to return to the initial position.
Measured: at baseline, 6, 12 and 24 months
Change of the repeated Stand Up test (r-SaUT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
The r-SaUT measures, in seconds, the time taken by a patient to stand up from a standard armchair (approximate seat height of 46 cm, arm height 65 cm) and to return to the initial position. This task is repeated 5 times (5 laps). The total time to complete the trial is recorded and the ratio last lap/first lap is calculated.
Measured: at baseline, 6, 12 and 24 months
Change of the Neck Flexion Fatigability Test (NFFT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
The NFFT measures, in seconds, the total time that the patient can hold the following position: in a lying position, arm relaxed on each sides of the body, the patient has to raise his head from the table flexing his neck at 45°.
Measured: at baseline, 6, 12 and 24 months
Change of the Bend Over Test (BOT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
The BOT measures, in seconds, the time taken by the patient, to bend forward, knee in extension, to touch a support placed in front of the middle of the tibia and to return to the initial position.
Measured: at baseline, 6, 12 and 24 months
Change of the repeated Bend Over Test (r-BOT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
The r-BOT measures, in seconds, the time taken by the patient, to perform 5 times consecutively the following task: to bend forward, knee in extension, to touch a support placed in front of the middle of the tibia and to return to the initial position.
Measured: at baseline, 6, 12 and 24 months
Change of the muscle mass from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Muscle mass is assessed with a portable device that quantify muscle volume and reconstruct the profile of muscle cross-sectional area along the thigh or leg. The device consists in a multifrequency bioelectrical impedance analyser, a pair of current electrodes, and a matrix of voltage electrodes positioned on the anterior thigh. Impedance will be measured on each thigh and each arm one after the other.
Measured: at baseline, 6, 12 and 24 months
Change of the respiratory function (sitting and bedside spirometry) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
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, 6, 12 and 24 months
Change of the Swallowing Quality of Life questionnaire (SWAL-QOL) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
The original SWAL-QOL scale has 44 items exploring patient's quality of life and grouped into 10 lifestyle scales: burden of eating difficulty; eating duration; eating desire; food selection; communication; fear; mental health; social impact; fatigue; and sleep. There is also a symptom-frequency scale in which each item is scored from 1 to 5 (1 for poorest, 5 for best quality of life). For each scale, a separate score out of 100% is calculated, with each item having the same importance. There is no global score of QOL.
Measured: at baseline, 6, 12 and 24 months
Change of the Sydney Swallow Questionnaire (SSQ) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
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, 6, 12 and 24 months
Change of the Fatigue Severity Scale (FSS) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
The FSS is a unidimensional scale which focuses on the physical aspects of fatigue. It is a self-reported questionnaire developed to measure the impact of disabling fatigue on daily functioning. It covers several areas including physical, social, and cognitive effects. The FSS is a patient-reported outcome composed of 9-items with scores ranging from 1 = "strongly disagree" to 7 = "strongly agree".
Measured: at baseline, 6, 12 and 24 months
Change of the Patient-Reported Outcomes Measurement Information System 57 (PROMIS57) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
The PROMIS57 is an instrument developed by the NIH PROMIS initiative. The PROMIS®-57 scales include eight items from seven primary domains: depression, anxiety, physical function, pain interference (and pain intensity), fatigue, sleep disturbance, and satisfaction with social roles. A 5-point scale is used for each instrument, except for the 0-10 pain intensity item.
Raw scores for each of the seven short forms (domains) in PROMIS-57 are calculated, and scores are converted to T-scores for each of the seven short forms (domains) in PROMIS-57 based on the PROMIS guidelines (http://www.healthmeasures.net).
The T-score conversion establishes 50 as a general population mean for all PROMIS domains, and any 10-point deviation corresponds to one standard deviation (SD) difference, for easy-to-understand and consistent scoring across measures.
Measured: at baseline, 6, 12 and 24 months
Change of the Upper Extremity Functional Index 15 (UEFI15) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
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, 6, 12 and 24 months
Change of the Facial Disability Index (FDI) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
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, 6, 12 and 24 months
Change of the Multidimensional Dyspnea Profile (MDP) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
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, 6, 12 and 24 months
Change of the Speech Handicap Index (SHI) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
The Speech Handicap Index (SHI) is one of the self-report assessments and questionnaires to assess speech problem and it is a test with 30 items.
Measured: at baseline, 6, 12 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 posted12 Jul 2022
- Study start3 Apr 2023
- Primary completionApr 2027 (estimated)
- Study completionApr 2027 (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 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
- 30 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
- NCT05453461
- Sponsor's protocol ID
- 22-PP-06
- Acronym
- ADVANCED
- Status last verified
- Sep 2025
- First submitted
- 1 Jul 2022
- Last updated
- 25 Sep 2025
- 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 25 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- ADVANCED FSHD-COM: New Clinical Outcome Measures to Evaluate Non-ambulant FSHD Patients, a Pilot Study
- ClinicalTrials.gov ID
- NCT05453461
- Acronym / sponsor ID
- ADVANCED / 22-PP-06
- Conditions
- Facioscapulohumeral Muscular Dystrophy
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 30 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de NiceUniversity, hospital or other
- Study start
- 3 Apr 2023 (actual)
- Primary completion
- Apr 2027 (estimated)
- Study completion
- Apr 2027 (estimated)
- First posted
- 12 Jul 2022 (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.
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common adult muscular dystrophy with an estimated prevalence range of 2-7 per 100,000. The disease is characterized by slowly progressive, asymmetric muscle weakness that starts with the face and scapular muscles. It causes significant lifetime morbidity, with up to 20% of patients eventually requiring full-time wheelchair use. However, there is a large degree of clinical variability in both disease progression and severity. This makes predicting an individual's disease course difficult and has made clinical trial design challenging.
The disease is caused by the aberrant expression of a normally silenced gene, DUX4, which causes disease by a toxic gain-of-function. The establishment of a unifying model for the cause of FSHD made it possible to develop disease-specific targeted treatments. Pharmaceutical companies are actively investigating therapeutic approaches in order to knockdown or silence DUX4, including the use of antisense RNA oligonucleotides which is already investigated for spinal muscular atrophy, Duchenne muscular dystrophy, and myotonic dystrophy. The drug development pipeline for FSHD over the next 5 years looks promising but meetings with industry, advocacy groups, and FSHD scientific experts have identified several gaps that need to be addressed to accelerate efficient drug development. As drugs move from preclinical testing into human trials, it is essential to validate clinical trial tools and methodologies to facilitate drug development. There is a strong need for clinical outcome measures (COMs) including biomarkers, strength outcomes, functional measures and patient reported outcomes to follow disease progression and to evaluate treatment efficacy.
A large international multicenter study is currently ongoing in order to validate COMs in ambulant FSHD patients (ReSolve, NCT03458832). Additionally, Nice University Hospital is conducting an ancillary study (CTRL FSHD France, NCT04038138) to evaluate muscle MRI, an additional emerging biomarker, to follow disease progression in the same patient population. To limit patient heterogeneity, only ambulant FSHD patients are included in these 2 ongoing studies. It is therefore important to generate data in severely affected non-ambulant FSHD patients, in order to validate COMs that are adapted to this specific subgroup of patients for future therapeutic trials.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| new COMs for non ambulant FSHD patients | Experimental | Diagnostic Test: Validation of new COMs for non ambulant FSHD patients |
Who may qualify
- Ages
- 18 years and older
- 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
- Age 18-75 years
- Symptomatic limb weakness
- FSHD patients who use the wheelchair daily and are able to stand or to walk at most 30 meters with assistance, and wheelchair-bound patients who are unable to walk.
- Clinical severity score (CSS) ≥ 8
Key exclusion criteria (5 listed)
- Patients with comorbidity not related to the disease that can modify the natural evolution of the disease or would interfere with safe testing in the opinion of the Investigator
- 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
- Vulnerable person (person deprived of their administrative and legal liberty, hospitalized person for other purposes than research)
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 COMs for non ambulant FSHD patientsMonitoring of commonly used and news COMs in non ambulant patients with facioscapulohumeral muscular dystrophy | Diagnostic test | new COMs for non ambulant FSHD patients |
Primary outcome
Change of the Motor Function Measure-32 (MFM-32) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 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.)
Change of the Manual Muscle Testing (MMT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 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
Change of the Hand-Held dynamometry (HHD) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Hand-Held dynamometry (HHD) assess the isometric muscle strength in both the upper and lower limbs bilaterally (global shoulder abduction and flexion, elbow flexion and extension, hip abduction, knee extension, ankle dorsiflexion isometric strength). The required equipment is a calibrated hand-held dynamometer (MicroFet). The patient has to push against the hand-held dynamometer 3 times as hard as he can for 3-5 seconds. The maximal value will be kept for further analysis.
Change of the Pinch and Grip test from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
The purpose of those tests is to measure the maximum isometric strength of the hand and forearm muscles when doing a grasping or a pinching action. The equipment required for the grip and the pinch tests is a calibrate dynamometer. The subject should be strongly encouraged to give a maximum effort. We record three trials for each hand, alternating hands with at least 30 seconds recovery between each effort. We keep the best result.
21 secondary outcomes
Change of the 9-Hole Peg test (9-HPT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the repeated 9-Hole Peg test (r9-HPT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the classic Timed Up and Go test (classic TUG) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the optimized Timed Up and Go test (classic TUG) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the Sit Up test (SiUT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the repeated Sit Up test (r-SiUT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the Stand Up test (SaUT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the repeated Stand Up test (r-SaUT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the Neck Flexion Fatigability Test (NFFT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the Bend Over Test (BOT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the repeated Bend Over Test (r-BOT) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the muscle mass from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the respiratory function (sitting and bedside spirometry) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the Swallowing Quality of Life questionnaire (SWAL-QOL) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the Sydney Swallow Questionnaire (SSQ) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the Fatigue Severity Scale (FSS) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the Patient-Reported Outcomes Measurement Information System 57 (PROMIS57) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the Upper Extremity Functional Index 15 (UEFI15) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the Facial Disability Index (FDI) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the Multidimensional Dyspnea Profile (MDP) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 and 24 months
Change of the Speech Handicap Index (SHI) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24)
Time frame: at baseline, 6, 12 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 25 Sep 2025.
- 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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site 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 COMs for non ambulant FSHD patients in people with Facioscapulohumeral Muscular Dystrophy, run by Centre Hospitalier Universitaire de Nice 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 8 inclusion and 5 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 25 Sep 2025. 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?
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?
Change of the Motor Function Measure-32 (MFM-32) from Baseline (T0) to 6 months (T6), 12 months (T12) and 24 months (M24) (time frame: at baseline, 6, 12 and 24 months). The study lists 4 primary outcomes in all. 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 25 Sep 2025.