Clinical trial NCT06847282: Motor Outcomes to Validate Evaluations in Pediatric FSHD (MOVE Peds)
Official title: Motor Outcomes to Validate Evaluations in Pediatric FSHD (MOVE Peds)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Muscular Dystrophy, Facioscapulohumeral
Keywords: FSHD
Pediatric
Lead sponsor: University of Kansas Medical Center
Sponsor class: OTHER
Collaborators: name: National Institute of Neurological Disorders and Stroke (NINDS)
name: University of Rochester
name: Stanford University
name: Duke University
name: University of California, Irvine
name: Kennedy Krieger Institute, Baltimore, MD
name: University of Utah
name: Seattle Children's Hospital
name: University of Iowa
name: Coriell Institute
name: Leiden University Medical Center
name: Murdoch Childrens Research Institute
First posted: 2025-02-26
Enrollment: 80
Sex: ALL
Minimum age (years): 5
Maximum age (years): 17
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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

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.

Eligibility criteria: 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

Primary outcomes:
measure: Pediatric FSHD-COM
timeFrame: Baseline-2 years
measure: Reachable Work Space
timeFrame: Baseline-2 years
Secondary outcomes:
measure: Quantitative MRI (qMRI) Fat Fraction %
timeFrame: Baseline-2 years
measure: Quantitative MRI (qMRI) Lean Muscle Volume (mL)
timeFrame: Baseline-2 years
measure: Quantitative MRI (qMRI) Total Volume
timeFrame: Baseline-2 years
measure: Quantitative MRI (qMRI) STIR+ ( %)
timeFrame: Baseline-2 years
Other outcomes:
measure: PROMIS Pediatric physical activity questionnaire (8 questions)
timeFrame: Baseline-2 years
measure: Neuro Qol Fatigue Scale
timeFrame: Baseline-2 years
measure: The Facial Disability Index (FDI) physical score
timeFrame: Baseline-2 years
measure: ACTIVLIM
timeFrame: Baseline-2 years
measure: Strength and Difficulties Questionnaire (SDQ)
timeFrame: Baseline-2 years
measure: Patient Global Impression of Severity (PGI-S)
timeFrame: Baseline-2 years
measure: Domain Delta
timeFrame: Baseline-2 years
measure: North Star Assessment for Dysferlinopathy (NSAD)
timeFrame: Baseline-2 years
measure: Performance of Upper Limb (PUL)
timeFrame: Baseline-2 years
measure: 100-Meter Walk/Run Test
timeFrame: Baseline-2 years
measure: Neuro Qol Pain Scale
timeFrame: Baseline-2 years
measure: Patient Global Impression of Change (PGI-C)
timeFrame: Baseline-2 years
Locations:
city: Palo Alto
country: United States
facility: Stanford University
state: California
city: Iowa City
country: United States
facility: University of Iowa
state: Iowa
city: Kansas City
country: United States
facility: University of Kansas Medical Center
state: Kansas
city: Rochester
country: United States
facility: University of Rochester
state: New York
city: Durham
country: United States
facility: Duke University
state: North Carolina
city: Salt Lake City
country: United States
facility: University of Utah
state: Utah
city: Melbourne
country: Australia
facility: Murdoch Children's Research Institute
Study officials:
affiliation: University of Kansas Medical Center
name: Jeffrey Statland, MD
role: PRINCIPAL_INVESTIGATOR
References: