Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)

FSHD Clinical Trial

— MOVE FSHD  

Official title:

Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04635891
• Other study ID #: STUDY00145405
• Status: Recruiting
• Start date: December 15, 2020
• Est. completion date: January 2027

Study information

• Verified date: April 2024
• Source: University of Kansas Medical Center
• Contact: Michaela Walker, MPH
• Phone: 913-945-9920
• Email: mwalker20[@]kumc.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 450
• Est. completion date: January 2027
• Est. primary completion date: December 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• FSHD
• Muscular Dystrophy, Facioscapulohumeral

Locations

Country	Name	City	State
Canada	University of Calgary	Calgary	Alberta
Canada	University of McGill	Montreal	Quebec
Canada	Ottawa Hospital Research Institute	Ottawa	Ontario
United Kingdom	Sheffield Teaching Hospital	Sheffield	South Yorkshire
United States	University of Colorado Anschutz Medical Campus	Aurora	Colorado
United States	Kennedy Krieger Institute	Baltimore	Maryland
United States	Nationwide Children's Hospital	Columbus	Ohio
United States	The Ohio State University Medical Center	Columbus	Ohio
United States	Univeristy of Texas Southwestern Medical Center	Dallas	Texas
United States	Univeristy of Florida Gainesville	Gainesville	Florida
United States	University of Iowa	Iowa City	Iowa
United States	Univeristy of Kansas Medical Center	Kansas City	Kansas
United States	David Geffen School of Medicine at UCLA	Los Angeles	California
United States	Virginia Commonwealth University	Richmond	Virginia
United States	University of Rochester Medical Center	Rochester	New York
United States	University of Utah	Salt Lake City	Utah
United States	University of Washington Medical Center	Seattle	Washington
United States	Neuromuscular Disorders Program at Stanford University School of Medicine	Stanford	California

Sponsors (11)

Lead Sponsor	Collaborator
University of Kansas Medical Center	AMRA Medical, Avidity Biosciences, Inc., Dyne Therapeutics, Friends Research Institute, Inc., FSHD Canada, FSHD Society, Inc., Hoffmann-La Roche, Seattle Children's Hospital, University of Nevada, Reno, University of Rochester

Countries where clinical trial is conducted

United States,  Canada,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Biospecimen Retention: Samples with DNA, RNA, plasma, and serum	Optional sub-study collecting DNA, RNA, plasma, and serum for biobanking.	Baseline - 3 years
Other	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
Other	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
Other	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
Other	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
Other	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
Other	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
Other	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
Primary	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
Primary	Shoulder and Arm Range of Motion	Range of motion tasks mimicking lifting or reaching up will be performed.	Baseline - 3 years
Primary	Shoulder and Arm Function	Participants will be timed on stacking cans.	Baseline - 3 years
Primary	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	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
Secondary	Hand Function	Hand function is captured by examining hand grip strength.	Baseline - 3 years
Secondary	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
Secondary	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
Secondary	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
Secondary	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
Secondary	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
Secondary	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
Secondary	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
Secondary	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
Secondary	MIP/MEP and SNIP	For sites who routinely obtain negative inspiratory or expiratory force (MIP/MEP) will be collected.	Baseline - 3 years
Secondary	4 Stair Climb	Time to ascend and descend 4 standard stairs.	Baseline - 3 years
Secondary	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