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

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

Study Overview

• Status: Recruiting
• Conditions: Muscular Dystrophy, Facioscapulohumeral

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 Type: Observational
• Enrollment (Estimated): 80

Contacts and Locations

• Study Contact: Name: Michaela Walker, MPH; Phone Number: 913-945-9920; Email: mwalker20@kumc.edu
• Study Contact Backup: Name: Rebecca Clay, BS; Phone Number: 9139459936; Email: rclay@kumc.edu

Study Locations

• Australia
  • Melbourne, Australia
    • Recruiting
    • Murdoch Children's Research Institute
    • Contact: Katy deValle, BApp Sc Physiotherapy, PhD; Phone Number: +61 03 9345 4287; Email: Katy.DeValle@rch.org.au
    • Principal Investigator: Ian R Woodcock, MBBS PhD MSc MRCPCH(UK) FRACP
• United States
  • California
    • Palo Alto, California, United States, 94304
      • Not yet recruiting
      • Stanford University
      • Principal Investigator: Carolina Tesi-Rocha, MD
      • Contact: Lin Karman, B.S.; Phone Number: 650-384-9417; Email: lkarman@stanford.edu
      • Contact: Sabrina Salvatore, MA; Phone Number: 650-387-5336; Email: ssalvato@stanford.edu
  • Iowa
    • Iowa City, Iowa, United States, 52242
      • Not yet recruiting
      • University of Iowa
      • Principal Investigator: Katherine Mathews, MD
      • Contact: Catherine Buescher, MS, BHS; Phone Number: 319-353-6269; Email: catherine-buescher@uiowa.edu
      • Contact: Carrie Stephan, MA, BSN, RN; Phone Number: 319-356-2673; Email: carrie-stephan@uiowa.edu
  • Kansas
    • Kansas City, Kansas, United States, 66160
      • Recruiting
      • University of Kansas Medical Center
      • Contact: Michaela Walker, MPH; Phone Number: 913-945-9920; Email: mwalker20@kumc.edu
      • Contact: Rebecca Clay; Phone Number: 913-945-9936; Email: rclay@kumc.edu
  • New York
    • Rochester, New York, United States, 14642
      • Recruiting
      • University of Rochester
      • Contact: Leann Lewis, MSGC; Phone Number: 585-275-7680; Email: Leann_Lewis@URMC.Rochester.edu
      • Contact: Marisa Severino; Phone Number: 585-274-0271; Email: Marisa_Severino@URMC.Rochester.edu
      • Principal Investigator: Katy Eichinger, DPT, PhD
      • Sub-Investigator: Brianna Brun, MD
  • North Carolina
    • Durham, North Carolina, United States, 27708
      • Recruiting
      • Duke University
      • Contact: Randy Smith, MPH; Phone Number: 919-684-1586; Email: randy.s.smith@duke.edu
      • Contact: Stephanie Thera; Email: stephanie.thera@duke.edu
      • Principal Investigator: Natalie Katz, MD, PhD
  • Utah
    • Salt Lake City, Utah, United States, 84112
      • Not yet recruiting
      • University of Utah
      • Principal Investigator: Russell Butterfield, MD, PhD
      • Contact: Ryan Kennington; Phone Number: 801-587-0833; Email: ryan.kennington@hsc.utah.edu
      • Contact: Caroline Flood; Email: Caroline.Flood@hsc.utah.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

This study is meant to target children most likely to be included in clinical trials: children who are clinically affected, old enough to perform functional measures, and still ambulatory. On outcomes proposed for MOVE Peds they would have room to show progression or improvement and be at a stage ideal to assess potential inclusion criteria: in particular whether symptom onset age or genetics separate early-onset from other childhood onset FSHD, or whether they exist on a spectrum of severities. At least half will qualify as early-onset (facial weakness before age 5 and shoulder weakness before age 10 or symptom onset before age 18 and 1-3 D4Z4 repeats). We will be also looking at a small cohort of early onset participants who's ambulation has been affected or is no longer able to ambulate. this will help us assess all child progression and understand the connection of early-onset and ambulation

Description

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 Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Cohort One; Cohort One will be individuals who are able to complete the 10 meter walk/run test in less than twelve seconds
Cohort Two; cohort two will be individuals who complete the 10 meter walk/run test in more than 12 seconds or is no longer able to complete.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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	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.	Baseline-2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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	Baseline-2 years
Quantitative 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.	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.	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.	Baseline-2 years

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
PROMIS Pediatric physical activity questionnaire (8 questions)	an instrument developed by the NIH PROMIS initiative. It generates scores for physical function and the impact of physical limitations on daily life. Participants will answer questions about how often they engage in physical activity, ranging from 0 days to 6-7 days per week. Higher scores indicate greater levels of physical activity.	Baseline-2 years
Neuro Qol Fatigue Scale	assess the impact of fatigue on individuals with neurological conditions, measuring their severity, frequency, and effects on daily activities and quality of life using a 5- point rating system (1 being never and 5 being always).	Baseline-2 years
The Facial Disability Index (FDI) physical score	is a 5-item questionnaire which assesses the physical impact of facial weakness. The responses (graded 1-5, 5 being no difficulty and 1 being unable to do) are summed to create a total score, which is then converted into a percentage scale. A score of 100% represents normal function, while lower scores indicate increasing levels of disability.	Baseline-2 years
ACTIVLIM	measures how well people with neuromuscular disorders can perform daily activities. It includes 22 questions about tasks such as dressing, bathing, and walking, with difficulty rated as impossible, difficult, or easy.	Baseline-2 years
Strength and Difficulties Questionnaire (SDQ)	is a tool used to screen for emotional and behavioral problems in children and adolescents aged 2 to 17. It consists of 25 questions divided into five categories: emotional symptoms, conduct problems, hyperactivity/inattention, peer relationship problems, and prosocial behavior. Each item is rated on a 3-point scale (0= not true, 1 = somewhat true and 2 = certainly true)	Baseline-2 years
Patient Global Impression of Severity (PGI-S)	Is a rating scale that patients can use to measure how severe they feel their symptoms are. Patients rate their condition on a scale from 1 (Normal) to 4 (Severe). This will serve as one of the study anchors.	Baseline-2 years
Domain Delta	is an instrument developed to assess quality of life and how disease has changed since last visit. the purpose of the "domain-delta" questionnaire is to determine each patient's perceived change in their health-related quality-of-life in the last 6-months. This questionnaire will inquire about total health as well as health related to 14 subdomains self-identified as important by patients during development of the FSHD Health Index. Participants indicate their perceived change by answering if an area "is a lot worse", "is a little worse", "there has been no change", "it is a little better", or "it is a lot better" for each subdomain. This will serve as one of the other anchors in the study.	Baseline-2 years
North Star Assessment for Dysferlinopathy (NSAD)	a tool used by clinicians to evaluate motor abilities in individuals with dysferlinopathy, a type of muscular dystrophy. It measures how well patients can perform various physical tasks, helping to track the progression of the disease. This assessment is useful for both walking and non-walking patients, providing important information to guide treatment and care plans. This will be used in comparison to how well the FSHD-COM Peds assessing subjects	Baseline-2 years
Performance of Upper Limb (PUL)	an assessment tool used to evaluate upper limb function in individuals with muscular dystrophies, such as Duchenne muscular dystrophy. It measures the ability to perform various motor tasks, providing insights into the strength and mobility of the arms and hands. The PUL helps track disease progression and guides treatment decisions by capturing detailed information about upper limb capabilities. This will be helpful in assessing Cohort two as well as will be utilized to the FSHD-COM Peds and RWS.	Baseline-2 years
100-Meter Walk/Run Test	is a fixed-distance assessment used to measure an individual's maximum ambulatory ability. Participants are asked to walk or run 100 meters as quickly as they can, depending on their capability. This test is commonly used in research to evaluate physical performance and mobility, particularly in individuals with conditions affecting their walking ability. It helps researchers track changes in mobility over time and assess the effectiveness of interventions aimed at improving walking speed and endurance	Baseline-2 years
Neuro Qol Pain Scale	assess the impact of pain on individuals with neurological conditions, measuring their severity, frequency, and effects on daily activities and quality of life using a 5- point rating system (1 being never and 5 being always).	Baseline-2 years
Patient Global Impression of Change (PGI-C)	Is a rating scale that patients can use to measure if any change in severity has occurred since being in the study. patient rate their change on a scale from 1 to 7 (1 being no change or worse and 7 being a great deal better or improvement that has made all the difference). This will serve as one of the study anchors.	Baseline-2 years

Collaborators and Investigators

• Sponsor: University of Kansas Medical Center
• Collaborators: National Institute of Neurological Disorders and Stroke (NINDS); University of Iowa; Duke University; Seattle Children's Hospital; Stanford University; University of California, Irvine; University of Utah; University of Rochester; Leiden University Medical Center; Murdoch Childrens Research Institute; Coriell Institute; Kennedy Krieger Institute, Baltimore, MD
• Investigators: Principal Investigator: Jeffrey Statland, MD, University of Kansas Medical Center

Study record dates

Study Major Dates

• Study Start (Actual): May 22, 2025
• Primary Completion (Estimated): May 1, 2027
• Study Completion (Estimated): May 1, 2028

Study Registration Dates

• First Submitted: January 23, 2025
• First Submitted That Met QC Criteria: February 20, 2025
• First Posted (Actual): February 26, 2025

Study Record Updates

• Last Update Posted (Actual): February 25, 2026
• Last Update Submitted That Met QC Criteria: February 24, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Keywords: Pediatric; FSHD
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Nervous System Diseases; Muscular Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Muscular Disorders, Atrophic; Muscular Dystrophies; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Muscular Dystrophy, Facioscapulohumeral
• Other Study ID Numbers: STUDY00160879; 1U01NS137702-01 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

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