Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)

Study Overview
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Brief Summary
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The primary goal of this proposal is to collect motor and functional outcomes specific to FSHD over time. By collecting measures specific to FSHD, this will help ensure the best level of clinical care is being provided. Also, the hope is to speed up drug development by gaining a better understanding of how having FSHD impacts motor function and other health outcomes (i.e. breathing, wheelchair use, etc.) and how big a change in motor function would be clinically meaningful to those with FSHD. Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD) will have approximately 450 FSHD participants followed for a minimum of 3 years. A subset of MOVE FSHD participants, approximately 200, will participate in the MOVE+ sub-study which includes whole body MRI and muscle biopsy.

Official Title
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Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)

Conditions
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FSHD

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Genetically confirmed FSHD (types 1 or 2) or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring. Exclusion Criteria: Unwilling or unable to provide informed consent. Any other medical condition which in the opinion of the investigator would interfere with study participation.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| MOVE FSHD Study Visits<br>Patients will receive standard of care as determined by their treating physician. Study visits will occur per standard of care and are anticipated to occur at least once a year. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 10m walk/run | The 10-meter walk/run (previously the 30 foot go) or gait speed task will be performed during study visits. This task tests a range of different abilities, from power, to endurance, and balance. Also, the 10 meter walk/run is a predictor of loss of ambulation in Duchenne Muscular Dystrophy. | Baseline - 3 years | 
| Shoulder and Arm Range of Motion | Range of motion tasks mimicking lifting or reaching up will be performed. | Baseline - 3 years | 
| Shoulder and Arm Function | Participants will be timed on stacking cans. | Baseline - 3 years | 
| Spirometry (FVC, FEV1, PCF) | Investigators will obtain forced vital capacity and forced expiratory volume in 1 second, both standardized outcomes used commonly in clinic and clinical trials. Also, for sites who routinely collect Peak Cough Flow this will also be obtained. | Baseline - 3 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Trunk Function | There are no specific functional tasks designed to measure trunk function in FSHD so Investigators have chosen a practical task that will reflect changes in core truncal muscle groups. The ability to sit up and the timed supine to sitting test reflects core muscle strength and coordination. | Baseline - 3 years | 
| Hand Function | Hand function is captured by examining hand grip strength. | Baseline - 3 years | 
| Timed Up and Go (TUG) | Balance and mobility are assessed by using the Timed Up and Go (TUG), a standard outcome measure for the elderly that is also increasingly being used in neuromuscular disorders. Participants are asked to rise from a chair, walk 3 meters, turn 180 degrees and return to a seated position in the chair. | Baseline - 3 years | 
| Saliva Methylation | Investigators will isolate DNA from blood cells in saliva - and will determine the methylation levels in the 4q region on chromosome 4 using this new technique. Investigators will compare methylation levels between participants and compare to other clinical information collected in this study. | Baseline - 3 years | 
| FSHD Clinical Severity Scores | A limited physical exam and strength testing will be used to derive two FSHD clinical severity scores. These severity scores both rank weakness in the face, shoulders, arms, distal, and proximal lower extremities on either a 10 or 15 point scale. The higher the severity score the more affected the individual. | Baseline - 3 years | 
| Patient-Reported Outcomes Measurement Information System-57 (PROMIS57) | The PROMIS57 is an instrument developed by the NIH which generates scores for physical function, and the impact of physical limitations on daily life. 57 questions are summed into a total score, which is transformed into a normalized t-score with 50 representing normal, and lower scores representing increasing disability. | Baseline - 3 years | 
| The Upper Extremity Functional Index | 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. | Baseline - 3 years | 
| Exercise and Pain Assessment | An exercise and pain assessment questionnaire was comprised specifically for this study and will be completed at every visit. | Baseline - 3 years | 
| The Facial Disability Index (FDI) | The FDI is a short 5 item questionnaire. The five questions are summed into total score which transformed onto a percentage scale, with 100 representing normal, and lower scores representing increasing disability. | Baseline - 3 years | 
| MIP/MEP and SNIP | For sites who routinely obtain negative inspiratory or expiratory force (MIP/MEP) will be collected. | Baseline - 3 years |