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 : December 14, 2022
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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.
|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 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.
- Reachable and Functional Workspace [ Time Frame: Baseline - 24-Months ]Reachable and Functional Workspace will be performed for a sub-group of approximately 200 participants. Participants are seated in front of a stereo-camera and perform a standardized upper extremity movement protocol under the supervision of a study clinical evaluator. Five-hundred-gram wrist weights will be added. The standardized simple set of movements consist of lifting the arm from the resting position to above the head while keeping the elbow extended, performing the same movement in vertical planes at around 0, 45, 90, 135 degrees. The second set of movements consists of horizontal sweeps at the level of the umbilicus and shoulder. Each set of movements is repeated three times for left and right arm.
Biospecimen Retention: Samples With DNA
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
|Ages Eligible for Study:||Child, Adult, Older Adult|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Non-Probability Sample|
Participants with FSHD that are seen in the researchers clinic.
This study is meant to be 'inclusive' and cover the full range of clinical FSHD: including children and adults, all ranges of abilities (ambulatory and non-ambulatory), and both genetic types of FSHD.
- 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.
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, MPHfirstname.lastname@example.org|
|Contact: Leann Lewis, MSGC||585-275-7680||Leann_Lewis@URMC.Rochester.edu|
|United States, California|
|David Geffen School of Medicine at UCLA||Recruiting|
|Los Angeles, California, United States, 90095|
|Contact: Dennis Fernando DeFernando@mednet.ucla.edu|
|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: Victoria Sims 352-733-2436 Victoria.Sims@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: Shemikka Young 614-685-8661 Shemikka.Young@osumc.edu|
|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: Sean Evans 214-648-2926 Sean.Evans@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|
|Contact: Italia Perez email@example.com|
|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.firstname.lastname@example.org|
|Principal Investigator: Nicholas Johnson, MD|
|United States, Washington|
|University of Washington Medical Center||Recruiting|
|Seattle, Washington, United States, 98195|
|Contact: Aliya Shabbir 206-543-0081 email@example.com|
|Principal Investigator: Leo Wang, MD, PhD|
|Ottawa Hospital Research Institute||Not yet recruiting|
|Ottawa, Ontario, Canada, K1y 4e9|
|Contact: Isabelle Fisette-Paulhus 613-798-5555 ext #19070 firstname.lastname@example.org|
|Contact: Jessica MacGregor 613-798-5555 ext #19627 email@example.com|
|Principal Investigator: Hanns Lochmuller, MD|
|University of McGill||Not yet recruiting|
|Montreal, Quebec, Canada, H3A 2B4|
|Contact: Smita Patel 514-398-4097 firstname.lastname@example.org|
|Contact: Romina Perrotti email@example.com|
|Principal Investigator: Angela Genge, MD|
|Principal Investigator: Erin O'Ferrall, MD|
|Sheffield Teaching Hospital||Not yet recruiting|
|Sheffield, South Yorkshire, United Kingdom, S10 2JF|
|Contact: Priya Patel 0114 22 65394 firstname.lastname@example.org|
|Contact: Eleanor Bickle email@example.com|
|Principal Investigator: Channa Hewamadduma, MD, PhD|
|Principal Investigator:||Jeffrey Statland, MD||University of Kansas Medical Center|
|Principal Investigator:||Rabi Tawil, MD||University of Rochester|
|Responsible Party:||University of Kansas Medical Center|
|Other Study ID Numbers:||
|First Posted:||November 19, 2020 Key Record Dates|
|Last Update Posted:||December 14, 2022|
|Last Verified:||December 2022|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Muscular Dystrophy, Facioscapulohumeral
Muscular Disorders, Atrophic
Nervous System Diseases
Genetic Diseases, Inborn