The primary goal of this study is to validate motor and functional outcomes and refine clinical trial strategies for pediatric-onset FSHD
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 Type
OBSERVATIONAL
Enrollment
80
Stanford University
Palo Alto, California, United States
NOT_YET_RECRUITINGUniversity of Iowa
Iowa City, Iowa, United States
NOT_YET_RECRUITINGUniversity of Kansas Medical Center
Kansas City, Kansas, United States
Pediatric FSHD-COM
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
Time frame: Baseline-2 years
Reachable Work Space
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.
Time frame: Baseline-2 years
Quantitative MRI (qMRI) Fat Fraction %
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
Time frame: Baseline-2 years
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
University of Rochester
Rochester, New York, United States
NOT_YET_RECRUITINGDuke University
Durham, North Carolina, United States
NOT_YET_RECRUITINGUniversity of Utah
Salt Lake City, Utah, United States
NOT_YET_RECRUITINGMurdoch Children's Research Institute
Melbourne, Australia
RECRUITINGQuantitative MRI (qMRI) Lean Muscle Volume (mL)
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.
Time frame: Baseline-2 years
Quantitative MRI (qMRI) Total Volume
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.
Time frame: Baseline-2 years
Quantitative MRI (qMRI) STIR+ ( %)
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.
Time frame: Baseline-2 years