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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT04635891
Recruitment Status : Recruiting
First Posted : November 19, 2020
Last Update Posted : December 14, 2022
FSHD Society, Inc.
Friends Research Institute, Inc.
University of Rochester
University of Nevada, Reno
FSHD Canada
Avidity Biosciences, Inc.
AMRA Medical
Seattle Children's Hospital
Information provided by (Responsible Party):
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 muscle biopsy.

Condition or disease

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Study Type : Observational
Estimated Enrollment : 450 participants
Observational Model: Cohort
Time Perspective: Prospective
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.

Primary Outcome Measures :
  1. 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.

  2. Shoulder and Arm Range of Motion [ Time Frame: Baseline - 3 years ]
    Range of motion tasks mimicking lifting or reaching up will be performed.

  3. Shoulder and Arm Function [ Time Frame: Baseline - 3 years ]
    Participants will be timed on stacking cans.

  4. 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.

Secondary Outcome Measures :
  1. 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.

  2. Hand Function [ Time Frame: Baseline - 3 years ]
    Hand function is captured by examining hand grip strength.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  10. MIP/MEP and SNIP [ Time Frame: Baseline - 3 years ]
    For sites who routinely obtain negative inspiratory or expiratory force (MIP/MEP) will be collected.

Other Outcome Measures:
  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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
Saliva samples that are collected will be sent to University of Nevada Reno for DNA methylation testing, and participants will receive results. DNA, RNA, plasma, and serum biomarker samples that are collected will be sent to University of Rochester Medical Center and will be stored in a biorepository for future research. Muscle tissue samples that are collected will be sent for RNA sequencing and commercial assay validation. Remaining muscle tissue will be sent to University of Rochester Medical Center biorepository for future research use.

Information from the National Library of Medicine

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.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

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.


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.

Information from the National Library of Medicine

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

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Contact: Michaela Walker, MPH 913-945-9920 mwalker20@kumc.edu
Contact: Leann Lewis, MSGC 585-275-7680 Leann_Lewis@URMC.Rochester.edu

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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    neurologyresearchpartners@cuanschutz.edu   
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.segura@neurology.ufl.edu   
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    rclay@kumc.edu   
Contact: Michaela Walker, MPH    913-945-9920    mwalker20@kumc.edu   
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    bibat@kennedykrieger.org   
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    sarah.moldt@hsc.utah.edu   
Contact: Italia Perez       italia.perez@hsc.utah.edu   
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.langeslay@vcuhealth.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    aliya15@uw.edu   
Contact       neustudy@uw.edu   
Principal Investigator: Leo Wang, MD, PhD         
Canada, Ontario
Ottawa Hospital Research Institute Not yet recruiting
Ottawa, Ontario, Canada, K1y 4e9
Contact: Isabelle Fisette-Paulhus    613-798-5555 ext #19070    ifisette@ohri.ca   
Contact: Jessica MacGregor    613-798-5555 ext #19627    jemacgregor@ohri.ca   
Principal Investigator: Hanns Lochmuller, MD         
Canada, Quebec
University of McGill Not yet recruiting
Montreal, Quebec, Canada, H3A 2B4
Contact: Smita Patel    514-398-4097    smita.patel@mcgill.ca   
Contact: Romina Perrotti       romina.perrotti@mcgill.ca   
Principal Investigator: Angela Genge, MD         
Principal Investigator: Erin O'Ferrall, MD         
United Kingdom
Sheffield Teaching Hospital Not yet recruiting
Sheffield, South Yorkshire, United Kingdom, S10 2JF
Contact: Priya Patel    0114 22 65394    priya.patel89@nhs.net   
Contact: Eleanor Bickle       eleanor.bickle@nhs.net   
Principal Investigator: Channa Hewamadduma, MD, PhD         
Sponsors and Collaborators
University of Kansas Medical Center
FSHD Society, Inc.
Friends Research Institute, Inc.
University of Rochester
University of Nevada, Reno
FSHD Canada
Avidity Biosciences, Inc.
AMRA Medical
Seattle Children's Hospital
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Principal Investigator: Jeffrey Statland, MD University of Kansas Medical Center
Principal Investigator: Rabi Tawil, MD University of Rochester
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Responsible Party: University of Kansas Medical Center
ClinicalTrials.gov Identifier: NCT04635891    
Other Study ID Numbers: STUDY00145405
First Posted: November 19, 2020    Key Record Dates
Last Update Posted: December 14, 2022
Last Verified: December 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn