Clinical trial NCT04635891: Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)
Official title: Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: FSHD
Lead sponsor: University of Kansas Medical Center
Sponsor class: OTHER
Collaborators: name: FSHD Society, Inc.
name: Friends Research Institute, Inc.
name: University of Rochester
name: University of Nevada, Reno
name: FSHD Canada
name: Avidity Biosciences, Inc.
name: AMRA Medical
name: Seattle Children's Hospital
name: Dyne Therapeutics
name: Hoffmann-La Roche
name: Springbok Analytics
First posted: 2020-11-19
Enrollment: 450
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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).


Eligibility criteria: 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.

Primary outcomes:
measure: 10m walk/run
timeFrame: Baseline - 5 years
measure: Shoulder and Arm Range of Motion
timeFrame: Baseline - 5 years
measure: Shoulder and Arm Function
timeFrame: Baseline - 5 years
measure: Spirometry (FVC, FEV1, PCF)
timeFrame: Baseline - 5 years
Secondary outcomes:
measure: Trunk Function
timeFrame: Baseline - 5 years
measure: Hand Function
timeFrame: Baseline - 5 years
measure: Timed Up and Go (TUG)
timeFrame: Baseline - 5 years
measure: Saliva Methylation
timeFrame: Baseline (collected only once)
measure: FSHD Clinical Severity Scores
timeFrame: Baseline - 5 years
measure: Patient-Reported Outcomes Measurement Information System-57 (PROMIS57)
timeFrame: Baseline - 5 years
measure: The Upper Extremity Functional Index
timeFrame: Baseline - 5 years
measure: Exercise and Pain Assessment
timeFrame: Baseline - 5 years
measure: The Facial Disability Index (FDI)
timeFrame: Baseline - 5 years
measure: FSHD Rasch-built overall disability scales (FSHD-RODS)
timeFrame: Baseline - 5 years
measure: MIP/MEP and SNIP
timeFrame: Baseline - 5 years
measure: 4 Stair Climb
timeFrame: Baseline - 5 years
measure: Manual Muscle Testing (MMT)
timeFrame: Baseline - 5 years
Other outcomes:
measure: Biospecimen Retention: Samples with DNA, RNA, plasma, and serum
timeFrame: Baseline - 5 years
measure: Remote Assessment Pilot
timeFrame: Baseline - 5 years
measure: MRI
timeFrame: Baseline - 12-Month
measure: Muscle Biopsy
timeFrame: Baseline - 4-Month
measure: Reachable and Functional Workspace
timeFrame: Baseline - 24-Months
measure: Syde Wearable Device
timeFrame: Baseline - 24-Months
measure: Motor Function Measure 32 (MFM32)
timeFrame: Baseline - 24-months (remote assessment and MOVE+ peds pilot only)
measure: FSHD COM Peds
timeFrame: Baseline - 24-Months
Locations:
city: Los Angeles
country: United States
facility: David Geffen School of Medicine at UCLA
state: California
city: Stanford
country: United States
facility: Neuromuscular Disorders Program at Stanford University School of Medicine
state: California
city: Aurora
country: United States
facility: University of Colorado Anschutz Medical Campus
state: Colorado
city: Gainesville
country: United States
facility: Univeristy of Florida Gainesville
state: Florida
city: Iowa City
country: United States
facility: University of Iowa
state: Iowa
city: Kansas City
country: United States
facility: Univeristy of Kansas Medical Center
state: Kansas
city: Baltimore
country: United States
facility: Kennedy Krieger Institute
state: Maryland
city: Rochester
country: United States
facility: University of Rochester Medical Center
state: New York
city: Columbus
country: United States
facility: The Ohio State University Medical Center
state: Ohio
city: Austin
country: United States
facility: Austin Neuromuscular Center
state: Texas
city: Dallas
country: United States
facility: Univeristy of Texas Southwestern Medical Center
state: Texas
city: San Antonio
country: United States
facility: University of Texas Health San Antonio
state: Texas
city: Salt Lake City
country: United States
facility: University of Utah
state: Utah
city: Richmond
country: United States
facility: Virginia Commonwealth University
state: Virginia
city: Seattle
country: United States
facility: University of Washington Medical Center
state: Washington
city: Sao Paulo
country: Brazil
facility: University of Sao Paulo
city: Calgary
country: Canada
facility: University of Calgary
state: Alberta
city: Ottawa
country: Canada
facility: Ottawa Hospital Research Institute
state: Ontario
city: Montreal
country: Canada
facility: University of McGill
state: Quebec
city: Sheffield
country: United Kingdom
facility: Sheffield Teaching Hospital
state: South Yorkshire
Study officials:
affiliation: University of Kansas Medical Center
name: Jeffrey Statland, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: University of Rochester
name: Rabi Tawil, MD
role: PRINCIPAL_INVESTIGATOR
References: