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

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.

Study Overview

• Status: Recruiting
• Conditions: FSHD

• Study Type: Observational
• Enrollment (Estimated): 450

Contacts and Locations

• Study Contact: Name: Michaela Walker, MPH; Phone Number: 913-945-9920; Email: mwalker20@kumc.edu
• Study Contact Backup: Name: Leann Lewis, MSGC; Phone Number: 585-275-7680; Email: Leann_Lewis@URMC.Rochester.edu

Study Locations

• Canada
  • Alberta
    • Calgary, Alberta, Canada, T2N1N4
      • Not yet recruiting
      • University of Calgary
      • Contact: Janet Petrillo; Phone Number: 403-210-7006; Email: japetril@ucalgary.ca
      • Contact: Carissa Wong; Phone Number: 403-210-3835; Email: carissa.wong@ucalgary.ca
      • Principal Investigator: Lawrence Korngut, MD
  • Ontario
    • Ottawa, Ontario, Canada, K1y 4e9
      • Recruiting
      • Ottawa Hospital Research Institute
      • Contact: Jessica MacGregor; Phone Number: #19627 613-798-5555; Email: jemacgregor@ohri.ca
      • Principal Investigator: Hanns Lochmuller, MD
      • Contact: Sydney Zakutney; Phone Number: #19627 613-798-5555; Email: szakutney@ohri.ca
  • Quebec
    • Montreal, Quebec, Canada, H3A 2B4
      • Not yet recruiting
      • University of McGill
      • Principal Investigator: Erin O'Ferrall, MD
      • Principal Investigator: Angela Genge, MD
      • Contact: Priya Nagpal; Phone Number: 514-398-7143; Email: priya.nagpal@mcgill.ca
      • Contact: Vanessa Bertone; Phone Number: 514-398-7143; Email: vanessa.bertone@mcgill.ca
• United Kingdom
  • South Yorkshire
    • Sheffield, South Yorkshire, United Kingdom, S10 2JF
      • Recruiting
      • Sheffield Teaching Hospital
      • Principal Investigator: Channa Hewamadduma, MD, PhD
      • Contact: Jon Street; Phone Number: 4-411-4271-1626; Email: j.street1@nhs.net
      • Contact: Email: sth.neuromuscularresearch@nhs.net
• United States
  • California
    • Los Angeles, California, United States, 90095
      • Recruiting
      • David Geffen School of Medicine at UCLA
      • Contact: Merve Kaleli; Phone Number: 310-825-3264; Email: MKaleli@mednet.ucla.edu
      • Contact: Dennis Fernando; Phone Number: 310-825-3264; Email: DeFernando@mednet.ucla.edu
      • Principal Investigator: Perry Shieh, MD, PhD
    • Stanford, California, United States, 94306
      • Recruiting
      • Neuromuscular Disorders Program at Stanford University School of Medicine
      • Contact: Phone Number: 650-725-4341; Email: NeuromuscularResearch@stanford.edu
      • Principal Investigator: John Day, MD, PhD
  • Colorado
    • Aurora, Colorado, United States, 80045
      • Recruiting
      • University of Colorado Anschutz Medical Campus
      • Contact: Phone Number: 303-724-4644; Email: neurologyresearchpartners@cuanschutz.edu
      • Principal Investigator: Stacy Dixon, MD
  • Florida
    • Gainesville, Florida, United States, 32608
      • Recruiting
      • Univeristy of Florida Gainesville
      • Contact: Julie Segura; Phone Number: 352-733-2412; Email: Julie.segura@neurology.ufl.edu
      • Principal Investigator: Subramony H Subramony, MD
      • Contact: Jennifer Argudo, MD; Phone Number: 352-733-2413; Email: Jennifer.Argudo@neurology.ufl.edu
  • Iowa
    • Iowa City, Iowa, United States, 52242
      • Not yet recruiting
      • University of Iowa
      • Principal Investigator: Katherine Mathews, MD
      • Contact: Carrie Stephan; Phone Number: 319-356-2673; Email: carrie-stephan@uiowa.edu
  • Kansas
    • Kansas City, Kansas, United States, 66160
      • Recruiting
      • Univeristy of Kansas Medical Center
      • Principal Investigator: Jeffrey Statland, MD
      • Contact: Rebecca Clay; Phone Number: 913-945-9936; Email: rclay@kumc.edu
      • Contact: Andrea Klempnauer; Phone Number: 913-574-0008; Email: atenney@kumc.edu
  • Maryland
    • Baltimore, Maryland, United States, 21205
      • Recruiting
      • Kennedy Krieger Institute
      • Contact: Geni Bibat; Phone Number: 423-923-2629; Email: bibat@kennedykrieger.org
      • Principal Investigator: Doris Leung, MD, PhD
      • Contact: Mary Yep; Phone Number: 443-923-7318; Email: Yep@kennedykrieger.org
  • New York
    • Rochester, New York, United States, 14642
      • Recruiting
      • University of Rochester Medical Center
      • Contact: Leann Lewis, MS; Phone Number: 585-275-7680; Email: Leann_Lewis@URMC.Rochester.edu
      • Principal Investigator: Rabi Tawil, MD
      • Principal Investigator: Johanna Hamel, MD
      • Contact: Marisa Severino; Phone Number: 585-274-0271; Email: Marisa_Severino@URMC.Rochester.edu
  • Ohio
    • Columbus, Ohio, United States, 43221
      • Recruiting
      • The Ohio State University Medical Center
      • Contact: Marco Tellez; Phone Number: 614-688-7837; Email: Marco.Tellez@osumc.edu
      • Contact: Shemikka Young; Phone Number: 614-685-8661; Email: Shemikka.Young@osumc.edu
      • Principal Investigator: Bakri Elsheikh, MD
    • Columbus, Ohio, United States, 43205
      • Not yet recruiting
      • Nationwide Children's Hospital
      • Contact: Audrey Beale; Phone Number: 614-355-6872; Email: Audrey.Beale@NationwideChildrens.org
      • Principal Investigator: Linda Lowes, DPT, PhD
  • Texas
    • Dallas, Texas, United States, 75390
      • Recruiting
      • Univeristy of Texas Southwestern Medical Center
      • Principal Investigator: Jaya Trivedi, MD
      • Contact: Tara Kristof; Phone Number: 214-227-3610; Email: Tara.Kristof@UTSouthwestern.edu
      • Contact: Steve Hopkins; Phone Number: 214-648-9380; Email: Steve.Hopkins@UTSouthwestern.edu
      • Sub-Investigator: Salman Bhai, MD
  • Utah
    • Salt Lake City, Utah, United States, 84132
      • Recruiting
      • University of Utah
      • Contact: Sarah Moldt; Phone Number: 801-585-9399; Email: sarah.moldt@hsc.utah.edu
      • Principal Investigator: Russell Butterfield, MD, PhD
  • Virginia
    • Richmond, Virginia, United States, 23219
      • Recruiting
      • Virginia Commonwealth University
      • Contact: Jodie Howell; Phone Number: 804-828-6110; Email: Jodie.Howell@vcuhealth.org
      • Principal Investigator: Nicholas Johnson, MD
      • Contact: Ruby Langeslay; Phone Number: 804-828-8481; Email: Ruby.langeslay@vcuhealth.org
  • Washington
    • Seattle, Washington, United States, 98195
      • Recruiting
      • University of Washington Medical Center
      • Principal Investigator: Leo Wang, MD, PhD
      • Contact: Mike Willis; Phone Number: 206-685-2028; Email: mwillis5@uw.edu
      • Contact: Lilly Young; Email: eyoung@uw.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• 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.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 - 3 years
Shoulder and Arm Range of Motion	Range of motion tasks mimicking lifting or reaching up will be performed.	Baseline - 3 years
Shoulder and Arm Function	Participants will be timed on stacking cans.	Baseline - 3 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 - 3 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Trunk Function	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.	Baseline - 3 years
Hand Function	Hand function is captured by examining hand grip strength.	Baseline - 3 years
Timed Up and Go (TUG)	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.	Baseline - 3 years
Saliva Methylation	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.	Baseline - 3 years
FSHD Clinical Severity Scores	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.	Baseline - 3 years
Patient-Reported Outcomes Measurement Information System-57 (PROMIS57)	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.	Baseline - 3 years
The Upper Extremity Functional Index	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.	Baseline - 3 years
Exercise and Pain Assessment	An exercise and pain assessment questionnaire was comprised specifically for this study and will be completed at every visit.	Baseline - 3 years
The Facial Disability Index (FDI)	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.	Baseline - 3 years
MIP/MEP and SNIP	For sites who routinely obtain negative inspiratory or expiratory force (MIP/MEP) will be collected.	Baseline - 3 years
FSHD Rasch-built overall disability scales (FSHD-RODS)	The FSHD-RODS is a questionnaire about the relationship between daily activities and health. 32 questions are are constructed using a modern clinimetric technique, the Rasch analysis, which by ordering the items in increasing difficulty, allows for the calculation of the sum of item scores to achieve a total score. Answers provide information about how FSHD affects daily and social activities and to what degree participants are able to perform usual activities.	Baseline - 3 years
4 Stair Climb	Time to ascend and descend 4 standard stairs.	Baseline - 3 years
Manual Muscle Testing (MMT)	For MMT a modified Medical Research Council 13-point scale will be used - with standardized positions for each muscle.	Baseline - 3 years

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Biospecimen Retention: Samples with DNA, RNA, plasma, and serum	Optional sub-study collecting DNA, RNA, plasma, and serum for biobanking.	Baseline - 3 years
Remote Assessment Pilot	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.	Baseline - 3 years
MRI	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.	Baseline - 12-Month
Muscle Biopsy	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.	Baseline - 4-Month
Reachable and Functional Workspace	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.	Baseline - 24-Months
Syde Wearable Device	The purpose of the wearable device is to accurately measure upper and lower limb movement during normal daily living. In FSHD, muscles are affected asymmetrically, therefore, measurements with the wearable device will be taken from the upper and lower limbs bilaterally.	Baseline - 24-Months
Motor Function Measure 32 (MFM32)	32-item Motor Function Measure (MFM32) is a clinician-reported outcome measure used to assess the functional abilities of individuals with neuromuscular diseases.	Baseline - 24-Months
FSHD COM Peds	We will collect the FSH-Composite outcome measure for children and adolescents. As with the FSHD-COM, the body regions assessed match areas of importance identified by patients and include leg function; shoulder and arm function; trunk function, hand function; and functional balance. The FSHD-COM Peds was modified by adding lighter weights to the shoulder abduction and flexion and elbow flexion items to accommodate motor development and lower strength levels seen in children. Most of the items are scored on a 5-point ordinal scale (0 = normal/not affected and 4= being severely affected or unable to complete the item) with the exception of the shoulder abduction/flexion and elbow flexion items which have been expanded and are scored on a 7-point scale using the additional weight categories. Thus, the total score for the FSHD-COM Peds is 84 (compared to 72 for the FSHD-COM).	Baseline - 24-Months

Collaborators and Investigators

• Sponsor: University of Kansas Medical Center
• Collaborators: Hoffmann-La Roche; Seattle Children's Hospital; University of Rochester; University of Nevada, Reno; Friends Research Institute, Inc.; Dyne Therapeutics; FSHD Society, Inc.; FSHD Canada; Avidity Biosciences, Inc.; AMRA Medical
• Investigators: Principal Investigator: Rabi Tawil, MD, University of Rochester; Principal Investigator: Jeffrey Statland, MD, University of Kansas Medical Center

Study record dates

Study Major Dates

• Study Start (Actual): December 15, 2020
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): January 1, 2027

Study Registration Dates

• First Submitted: October 29, 2020
• First Submitted That Met QC Criteria: November 13, 2020
• First Posted (Actual): November 19, 2020

Study Record Updates

• Last Update Posted (Actual): April 22, 2024
• Last Update Submitted That Met QC Criteria: April 18, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophy, Facioscapulohumeral
• Other Study ID Numbers: STUDY00145405

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No