Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)

NCT04635891 | Recruiting

• 1 other identifier: STUDY00145405
• Study Type: observational
• Target: 450
• Locations: 4 countries
• Sites: 21

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).

Conditions

FSHD

Outcome Measures

Primary Outcomes (4)

• 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 - 5 years

• Shoulder and Arm Range of Motion

  Range of motion tasks mimicking lifting or reaching up will be performed.

  Baseline - 5 years

• Shoulder and Arm Function

  Participants will be timed on stacking cans.

  Baseline - 5 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 - 5 years

Secondary Outcomes (13)

• Trunk Function

  Baseline - 5 years

• Hand Function

  Baseline - 5 years

• Timed Up and Go (TUG)

  Baseline - 5 years

• Saliva Methylation

  Baseline (collected only once)

• FSHD Clinical Severity Scores

  Baseline - 5 years

Other Outcomes (8)

• Biospecimen Retention: Samples with DNA, RNA, plasma, and serum

  Baseline - 5 years

• Remote Assessment Pilot

  Baseline - 5 years

• MRI

  Baseline - 12-Month

Study Arms (1)

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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Genetically confirmed FSHD (types 1 or 2) or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring.

You may not qualify if:

• Unwilling or unable to provide informed consent.
• Any other medical condition which in the opinion of the investigator would interfere with study participation.

Sponsors & Collaborators

• University of Kansas Medical Center: lead
• FSHD Society, Inc.: collaborator
• Friends Research Institute, Inc.: collaborator
• University of Rochester: collaborator
• University of Nevada, Reno: collaborator
• FSHD Canada: collaborator
• Avidity Biosciences, Inc.: collaborator
• AMRA Medical: collaborator
• Seattle Children's Hospital: collaborator
• Dyne Therapeutics: collaborator
• Hoffmann-La Roche: collaborator
• Springbok Analytics: collaborator
• Novartis Pharmaceuticals: collaborator

Study Sites (21)

David Geffen School of Medicine at UCLA

Los Angeles, California, 90095, United States

RECRUITING

Neuromuscular Disorders Program at Stanford University School of Medicine

Stanford, California, 94306, United States

RECRUITING

University of Colorado Anschutz Medical Campus

Aurora, Colorado, 80045, United States

RECRUITING

Univeristy of Florida Gainesville

Gainesville, Florida, 32608, United States

RECRUITING

University of Iowa

Iowa City, Iowa, 52242, United States

RECRUITING

Univeristy of Kansas Medical Center

Kansas City, Kansas, 66160, United States

RECRUITING

Kennedy Krieger Institute

Baltimore, Maryland, 21205, United States

RECRUITING

University of Rochester Medical Center

Rochester, New York, 14642, United States

RECRUITING

Duke University - Lenox Baker Children's Hospital

Durham, North Carolina, 27705, United States

RECRUITING

The Ohio State University Medical Center

Columbus, Ohio, 43221, United States

RECRUITING

Austin Neuromuscular Center

Austin, Texas, 78759, United States

RECRUITING

Univeristy of Texas Southwestern Medical Center

Dallas, Texas, 75390, United States

RECRUITING

University of Texas Health San Antonio

San Antonio, Texas, 78229, United States

NOT YET RECRUITING

University of Utah

Salt Lake City, Utah, 84132, United States

RECRUITING

Virginia Commonwealth University

Richmond, Virginia, 23219, United States

RECRUITING

University of Washington Medical Center

Seattle, Washington, 98195, United States

RECRUITING

University of Sao Paulo

São Paulo, Brazil

RECRUITING

University of Calgary

Calgary, Alberta, T2N1N4, Canada

NOT YET RECRUITING

Ottawa Hospital Research Institute

Ottawa, Ontario, K1y 4e9, Canada

RECRUITING

University of McGill

Montreal, Quebec, H3A 2B4, Canada

NOT YET RECRUITING

Sheffield Teaching Hospital

Sheffield, South Yorkshire, S10 2JF, United Kingdom

RECRUITING

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.

Study Officials

• Jeffrey Statland, MD

  University of Kansas Medical Center

  PRINCIPAL INVESTIGATOR

• Rabi Tawil, MD

  University of Rochester

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Michaela Walker, MPH

CONTACT

913-945-9920; mwalker20@kumc.edu

Leann Lewis, MSGC

CONTACT

585-275-7680; Leann_Lewis@URMC.Rochester.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 29, 2020
• First Posted: November 19, 2020
• Study Start: December 15, 2020
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): January 1, 2028
• Last Updated: May 7, 2026

Record last verified: 2026-05

Locations

BR (1); GB (1); US (16); CA (3)