Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)
- Conditions
- FSHD
- Registration Number
- NCT04635891
- Lead Sponsor
- University of Kansas Medical Center
- Brief Summary
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 reachable workspace, as well as optional muscle biopsy and wearable device (US participants only).
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 450
- Genetically confirmed FSHD (types 1 or 2) or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring.
- Unwilling or unable to provide informed consent.
- Any other medical condition which in the opinion of the investigator would interfere with study participation.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 10m walk/run Baseline - 5 years 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.
Shoulder and Arm Range of Motion Baseline - 5 years Range of motion tasks mimicking lifting or reaching up will be performed.
Shoulder and Arm Function Baseline - 5 years Participants will be timed on stacking cans.
Spirometry (FVC, FEV1, PCF) Baseline - 5 years 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.
- Secondary Outcome Measures
Name Time Method MIP/MEP and SNIP Baseline - 5 years For sites who routinely obtain negative inspiratory or expiratory force (MIP/MEP) will be collected.
4 Stair Climb Baseline - 5 years Time to ascend and descend 4 standard stairs.
Manual Muscle Testing (MMT) Baseline - 5 years For MMT a modified Medical Research Council 13-point scale will be used - with standardized positions for each muscle.
Exercise and Pain Assessment Baseline - 5 years An exercise and pain assessment questionnaire was comprised specifically for this study and will be completed at every visit.
The Facial Disability Index (FDI) Baseline - 5 years 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.
Trunk Function Baseline - 5 years 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.
Hand Function Baseline - 5 years Hand function is captured by examining hand grip strength.
Timed Up and Go (TUG) Baseline - 5 years 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.
Saliva Methylation Baseline (collected only once) 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.
FSHD Clinical Severity Scores Baseline - 5 years 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.
Patient-Reported Outcomes Measurement Information System-57 (PROMIS57) Baseline - 5 years 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.
The Upper Extremity Functional Index Baseline - 5 years 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.
FSHD Rasch-built overall disability scales (FSHD-RODS) Baseline - 5 years The FSHD-RODS is a questionnaire about the relationship between daily activities and health. 32 questions are are constructed using a modern clinimetric technique, the Rasch analysis, which by ordering the items in increasing difficulty, allows for the calculation of the sum of item scores to achieve a total score. Answers provide information about how FSHD affects daily and social activities and to what degree participants are able to perform usual activities.
Trial Locations
- Locations (20)
Austin Neuromuscular Center
🇺🇸Austin, Texas, United States
University of Texas Health San Antonio
🇺🇸San Antonio, Texas, United States
University of Sao Paulo
🇧🇷Sao Paulo, Brazil
David Geffen School of Medicine at UCLA
🇺🇸Los Angeles, California, United States
Neuromuscular Disorders Program at Stanford University School of Medicine
🇺🇸Stanford, California, United States
University of Colorado Anschutz Medical Campus
🇺🇸Aurora, Colorado, United States
Univeristy of Florida Gainesville
🇺🇸Gainesville, Florida, United States
University of Iowa
🇺🇸Iowa City, Iowa, United States
Univeristy of Kansas Medical Center
🇺🇸Kansas City, Kansas, United States
University of Calgary
🇨🇦Calgary, Alberta, Canada
Kennedy Krieger Institute
🇺🇸Baltimore, Maryland, United States
University of Rochester Medical Center
🇺🇸Rochester, New York, United States
The Ohio State University Medical Center
🇺🇸Columbus, Ohio, United States
Univeristy of Texas Southwestern Medical Center
🇺🇸Dallas, Texas, United States
University of Utah
🇺🇸Salt Lake City, Utah, United States
Virginia Commonwealth University
🇺🇸Richmond, Virginia, United States
University of Washington Medical Center
🇺🇸Seattle, Washington, United States
Ottawa Hospital Research Institute
🇨🇦Ottawa, Ontario, Canada
University of McGill
🇨🇦Montreal, Quebec, Canada
Sheffield Teaching Hospital
🇬🇧Sheffield, South Yorkshire, United Kingdom