Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD) (MOVE FSHD)
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|ClinicalTrials.gov Identifier: NCT04635891|
Recruitment Status : Recruiting
First Posted : November 19, 2020
Last Update Posted : September 23, 2021
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.
|Condition or disease|
|Study Type :||Observational|
|Estimated Enrollment :||450 participants|
|Official Title:||Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)|
|Actual Study Start Date :||December 15, 2020|
|Estimated Primary Completion Date :||December 2023|
|Estimated Study Completion Date :||January 2024|
MOVE FSHD Study Visits
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.
- 10m walk/run [ Time Frame: Baseline - 3 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 [ Time Frame: Baseline - 3 years ]Range of motion tasks mimicking lifting or reaching up will be performed.
- Shoulder and Arm Function [ Time Frame: Baseline - 3 years ]Participants will be timed on stacking cans.
- Spirometry (FVC, FEV1, PCF) [ Time Frame: Baseline - 3 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.
- Trunk Function [ Time Frame: Baseline - 3 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 [ Time Frame: Baseline - 3 years ]Hand function is captured by examining hand grip strength.
- Timed Up and Go (TUG) [ Time Frame: Baseline - 3 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 [ Time Frame: Baseline - 3 years ]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 [ Time Frame: Baseline - 3 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) [ Time Frame: Baseline - 3 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 [ Time Frame: Baseline - 3 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.
- Exercise and Pain Assessment [ Time Frame: Baseline - 3 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) [ Time Frame: Baseline - 3 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.
- MIP/MEP and SNIP [ Time Frame: Baseline - 3 years ]For sites who routinely obtain negative inspiratory or expiratory force (MIP/MEP) will be collected.
- Biospecimen Retention: Samples with DNA, RNA, plasma, and serum [ Time Frame: Baseline - 3 years ]Optional sub-study collecting DNA, RNA, plasma, and serum for biobanking.
- Remote Assessment Pilot [ Time Frame: Baseline - 3 years ]A sub-group of approximately 20 participants will perform remote assessments in the home. The remote assessments are meant to capture the assessments that occur during a routine in-person visit, and will overlap functional categories, to include reaching and lifting objects, core functional measures, measures of gait and balance, and midarm and hand tasks. Measures of respiratory (FVC, FEV1, PCF, SNIP), bulbar function, and handgrip strength will also be included. Functional measures will be modified to allow for independent and/or via two-way video performance.
- MRI [ Time Frame: Baseline - 12-Month ]Whole body MRI will be performed for a sub-group of approximately 200 participants. MRI is recognized as a gold standard for body composition analysis, enabling a more complete description of a person's body composition profile from a single examination.In addition, we will include analysis to help make needle biopsy based on STIR and quantitative fat fraction more efficient with higher yield using standard fiducial markings and body landmarks.
- Muscle Biopsy [ Time Frame: Baseline - 4-Month ]Muscle biopsy will be be performed for a sub-group of approximately 200 participants. Muscle biopsies will be performed at the baseline visit and for a subset of 20 participants at 4 months. We will use MRI analysis to help inform which lower extremity muscle will be chosen for biopsy. Muscle samples will be used to recapitulate RNA sequencing to confirm prior DUX4 target selection. In addition, other early or late genes of interest may be included which are FSHD-related but not specific to DUX4. We will also select 4 control genes for quality assurance, 2 to confirm muscle tissue, and 2 to rule out high fat content.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04635891
|Contact: Michaela Walker, MPHemail@example.com|
|Contact: Kiley Higgs, BSfirstname.lastname@example.org|
|United States, California|
|David Geffen School of Medicine at UCLA||Recruiting|
|Los Angeles, California, United States, 90095|
|Contact: Jennifer Huynh 310-825-3264 JenniferH@mednet.ucla.edu|
|Principal Investigator: Perry Shieh, MD, PhD|
|Neuromuscular Disorders Program at Stanford University School of Medicine||Recruiting|
|Stanford, California, United States, 94306|
|Contact 650-725-4341 NeuromuscularResearch@stanford.edu|
|Principal Investigator: John Day, MD, PhD|
|United States, Colorado|
|University of Colorado Anschutz Medical Campus||Recruiting|
|Aurora, Colorado, United States, 80045|
|Contact 303-724-4644 email@example.com|
|Principal Investigator: Matthew Wicklund, MD|
|United States, Florida|
|Univeristy of Florida Gainesville||Recruiting|
|Gainesville, Florida, United States, 32608|
|Contact: Katiana Fenelon 352-733-2436 Katiana.Fenelon@neurology.ufl.edu|
|Contact: Julie Segura 352-733-2412 Julie.firstname.lastname@example.org|
|Principal Investigator: Subramony H Subramony, MD|
|United States, Kansas|
|Univeristy of Kansas Medical Center||Recruiting|
|Kansas City, Kansas, United States, 66160|
|Contact: Rebecca Clay 913-945-9936 email@example.com|
|Contact: Michaela Walker, MPH 913-945-9920 firstname.lastname@example.org|
|Principal Investigator: Jeffrey Statland, MD|
|United States, Maryland|
|Kennedy Krieger Institute||Recruiting|
|Baltimore, Maryland, United States, 21205|
|Contact: Mary Yep 443-923-7318 Yep@kennedykrieger.org|
|Contact: Geni Bibat 423-923-2629 email@example.com|
|Principal Investigator: Doris Leung, MD, PhD|
|United States, New York|
|University of Rochester Medical Center||Recruiting|
|Rochester, New York, United States, 14642|
|Contact: Leann Lewis, MS 585-275-7680 Leann_Lewis@URMC.Rochester.edu|
|Principal Investigator: Rabi Tawil, MD|
|United States, Ohio|
|The Ohio State University Medical Center||Recruiting|
|Columbus, Ohio, United States, 43221|
|Contact: Marco Tellez 614-688-7837 Marco.Tellez@osumc.edu|
|Principal Investigator: Bakri Elsheikh, MD|
|United States, Texas|
|Univeristy of Texas Southwestern Medical Center||Recruiting|
|Dallas, Texas, United States, 75390|
|Contact: Osniel Gonzalez Ramos 214-648-2926 Osniel.GonzalezRamos@UTSouthwestern.edu|
|Contact: Steve Hopkins 214-648-9275 Steve.Hopkins@UTSouthwestern.edu|
|Principal Investigator: Jaya Trivedi, MD|
|United States, Utah|
|University of Utah||Recruiting|
|Salt Lake City, Utah, United States, 84132|
|Contact: Sarah Moldt 801-585-9399 firstname.lastname@example.org|
|Principal Investigator: Russell Butterfield, MD, PhD|
|United States, Virginia|
|Virginia Commonwealth University||Recruiting|
|Richmond, Virginia, United States, 23219|
|Contact: Jodie Howell 804-828-6110 Jodie.Howell@vcuhealth.org|
|Contact: Ruby Langeslay 804-828-8481 Ruby.email@example.com|
|Principal Investigator: Nicholas Johnson, MD|
|United States, Washington|
|University of Washington Medical Center||Recruiting|
|Seattle, Washington, United States, 98195|
|Contact: Corrie Moreau, BSN 206-685-2028 firstname.lastname@example.org|
|Principal Investigator: Leo Wang, MD, PhD|
|Principal Investigator:||Jeffrey Statland, MD||University of Kansas Medical Center|
|Principal Investigator:||Rabi Tawil, MD||University of Rochester|