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

Not yet recruiting

• Conditions: Muscular Dystrophy, Facioscapulohumeral

• Registration Number: NCT06847282
• Lead Sponsor: University of Kansas Medical Center

Brief Summary

The primary goal of this study is to validate motor and functional outcomes and refine clinical trial strategies for pediatric-onset FSHD

Detailed Description

MOVE Peds is a prospective 2-year study recruiting eighty pediatric participants to accelerate therapeutic development for pediatric-onset FSHD. The study aims to validate outcomes and refine clinical trial strategies. Previous cross-sectional studies suggest that younger age of onset is linked to greater clinical severity and that having 1-3 D4Z4 repeats is associated with extra-muscular complications in pediatric FSHD.

Prospective studies in early-onset FSHD have been limited by the small number of sites and low recruitment and follow-up rates. Early-onset pediatric FSHD is of high interest to drug companies because:

1. It results in a more significant disease burden than in adults.

2. Treating FSHD at earlier ages may have a more lasting and profound effect.

3. Genetic, molecular, and clinical factors may differ between pediatric and adult-onset FSHD.

4. Smaller body size and faster progression rates may make AAV-delivered gene therapies more feasible.

The FSHD CTRN's previous research showed that the FSHD composite functional measure (FSHD-COM), reachable workspace (RWS), and quantitative MRI measures (qMRI) are responsive to disease progression or treatment in adults with FSHD and correlate with performance. Investigators hypothesize that early changes in qMRI in pediatric subjects will predict 2-year changes in FSHD-COM Peds or RWS.

Study Timeline

• Study First Submitted: 2025-01-23
• Status Verified: 2025-02
• Study First Submitted QC: 2025-02-20
• Last Update Submitted: 2025-02-20
• Study First Posted: 2025-02-26
• Last Update Posted: 2025-02-26
• Study Start: 2025-05
• Primary Completion: 2027-05
• Study Completion: 2028-05

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 80

Inclusion Criteria

• Age 5-17 years.
• Genetically confirmed FSHD (types 1 or 2).
• Symptomatic weakness (facial, shoulder, core, or limb weakness)
• Able to complete a 10-meter walk without the support of another person in less than 12 seconds (canes, walking sticks, and braces allowed; no walker). In order to include early onset participants up to 8 individuals will be entered with baseline 10MWR > 12 seconds or who are no longer ambulatory (≤10%)

Exclusion Criteria

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

• Malignancy with ongoing treatment with chemotherapeutic agents or anabolic agents

• Use of immunosuppressants including prednisone or performance enhancing drugs including testosterone within 6 months

• Pregnancy

• Recent or ongoing infection

• Presence of contraindication to performance of MRI: pacemaker, metallic foreign body in eye, brain aneurysm clip (unless documented as MRI compatible)

• In the opinion of the investigator unable to follow directions for standardized testing

  • Note: Not being able to complete MRI will not result in a screen failure. If subject is not able to complete the procedure due to fear or anxiety, they will have the opportunity to try again at later visits. However, Subject must be willing to attempt to perform the MRI to meet inclusion/exclusion criteria

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Pediatric FSHD-COM	Baseline-2 years	Investigators will collect the FSH-Composite outcome measure for children and adolescents. This measure assesses multiple body regions identified as important by patients, including leg function, shoulder and arm function, trunk function, hand function, and functional balance. The FSHD-COM Peds has been modified to include lighter weights for shoulder abduction and flexion, as well as elbow flexion, to accommodate the motor development and lower strength levels seen in children. Although the FSHD-COM Peds involves different measurements for each body region, these measurements are combined to produce a single composite score. The total score for the FSHD-COM Peds is out of 84, representing one comprehensive outcome measure
Reachable Work Space	Baseline-2 years	Subjects 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.

Secondary Outcome Measures

Name	Time	Method
Quantitative MRI (qMRI) Fat Fraction %	Baseline-2 years	quantitative MRI measurements are considered gold standard for lean muscle volume measurement and disease biomarkers (fat volumes, fat faction, and STIR+ presence) that may be modulated by treatment. Muscle fat replacement and free-water hyperintensity indicate early disease changes before functional performance is affected. Muscles with an intermediate fat fraction (10-55%) predict disease progression over 1-2 years.; Investigators will use a whole-body MRI and will find the fat fraction % in pediatric subjects and compare these measurements with other factors to create a composite score over a two-year period
Quantitative MRI (qMRI) Lean Muscle Volume (mL)	Baseline-2 years	Quantitative MRI measurements are considered the gold standard for assessing lean muscle volume and disease biomarkers (fat volumes vs. lean muscle volumes and STIR+ presence) that may be modulated by treatment. Muscle fat replacement and free-water hyperintensity indicate early disease changes before functional performance is affected. Muscles with low lean muscle volume and an intermediate fat fraction (10-55%) predict disease progression over 1-2 years.; Investigators will use whole-body MRI to measure lean muscle volume (mL) in pediatric subjects and compare these measurements with other factors to create a composite score over a two-year period.
Quantitative MRI (qMRI) Total Volume	Baseline-2 years	Quantitative MRI measurements are considered the gold standard for assessing lean muscle volume and disease biomarkers (fat volumes, fat fraction and STIR+ presence) that may be modulated by treatment. The use of MRI has shown as a technique to predict disease progression.; Investigators will use whole-body MRI to measure total volume (mL) in pediatric subjects and compare these measurements with other factors to create a composite score over a two-year period. This refers to the overall volume of a specific tissue or organ measured in milliliters (mL) using MRI.
Quantitative MRI (qMRI) STIR+ ( %)	Baseline-2 years	Quantitative MRI measurements are considered the gold standard for assessing lean muscle volume and disease biomarkers, such as the percentage of lean muscle volume with Short Tau Inversion Recovery (STIR) enhancement. STIR MRI helps predict disease progression by highlighting areas of inflammation and edema within muscle tissue. This provides valuable insights into underlying disease processes, aiding in the prediction of progression and guiding treatment decisions.; Investigators will use whole-body MRI to measure STIR positivity, indicating inflammation and edema, in pediatric subjects. These measurements will be compared with other factors to create a composite score over a two-year period.

Trial Locations

Locations (1)

University of Kansas Medical Center; 🇺🇸 Kansas City, Kansas, United States