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

NCT06847282 | Recruiting

• 2 other identifiers: STUDY001608791U01NS137702-01
• Study Type: observational
• Target: 80
• Locations: 2 countries
• Sites: 7

Brief Summary

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

Conditions

Muscular Dystrophy, Facioscapulohumeral

Keywords

FSHD; Pediatric

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (4)

• Quantitative MRI (qMRI) Fat Fraction %

  Baseline-2 years

• Quantitative MRI (qMRI) Lean Muscle Volume (mL)

  Baseline-2 years

• Quantitative MRI (qMRI) Total Volume

  Baseline-2 years

• Quantitative MRI (qMRI) STIR+ ( %)

  Baseline-2 years

Other Outcomes (12)

• PROMIS Pediatric physical activity questionnaire (8 questions)

  Baseline-2 years

• Neuro Qol Fatigue Scale

  Baseline-2 years

• The Facial Disability Index (FDI) physical score

  Baseline-2 years

Study Arms (2)

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.

Eligibility Criteria

• Age: 5 Years - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• 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

You may qualify if:

• 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%)

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Kansas Medical Center: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• University of Rochester: collaborator
• Stanford University: collaborator
• Duke University: collaborator
• University of California, Irvine: collaborator
• Kennedy Krieger Institute, Baltimore, MD: collaborator
• University of Utah: collaborator
• Seattle Children's Hospital: collaborator
• University of Iowa: collaborator
• Coriell Institute: collaborator
• Leiden University Medical Center: collaborator
• Murdoch Childrens Research Institute: collaborator

Study Sites (7)

Stanford University

Palo Alto, California, 94304, United States

NOT YET RECRUITING

University of Iowa

Iowa City, Iowa, 52242, United States

NOT YET RECRUITING

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

RECRUITING

University of Rochester

Rochester, New York, 14642, United States

RECRUITING

Duke University

Durham, North Carolina, 27708, United States

RECRUITING

University of Utah

Salt Lake City, Utah, 84112, United States

NOT YET RECRUITING

Murdoch Children's Research Institute

Melbourne, Australia

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

DNA will be collected at baseline for genetic testing and will be sent to Leiden for assessment. DNA, plasma, and serum biomarker samples that are collected will be sent to Coriell which will be stored in a biorepository for future research.

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Jeffrey Statland, MD

  University of Kansas Medical Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Michaela Walker, MPH

CONTACT

913-945-9920; mwalker20@kumc.edu

Rebecca Clay, BS

CONTACT

9139459936; rclay@kumc.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: January 23, 2025
• First Posted: February 26, 2025
• Study Start: May 22, 2025
• Primary Completion (Estimated): May 1, 2027
• Study Completion (Estimated): May 1, 2028
• Last Updated: February 25, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (6); AU (1)