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Recruiting NCT06847282

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

— Observational Muscular Dystrophy, Facioscapulohumeral

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Muscular Dystrophy, Facioscapulohumeral. Basic parameters: 5 years — 17 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States, Australia
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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.

Primary outcome measures

  • Pediatric FSHD-COM [Time frame: Baseline-2 years]
  • Reachable Work Space [Time frame: Baseline-2 years]
Secondary outcome measures (4)
  • Quantitative MRI (qMRI) Fat Fraction % [Time frame: Baseline-2 years]
  • Quantitative MRI (qMRI) Lean Muscle Volume (mL) [Time frame: Baseline-2 years]
  • Quantitative MRI (qMRI) Total Volume [Time frame: Baseline-2 years]
  • Quantitative MRI (qMRI) STIR+ ( %) [Time frame: Baseline-2 years]

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

United States · 6 centers
  • Stanford University — Palo Alto
  • University of Iowa — Iowa City
  • University of Kansas Medical Center — Kansas City
  • University of Rochester — Rochester
  • Duke University — Durham
  • University of Utah — Salt Lake City
Australia · 1 center
  • Murdoch Children's Research Institute — Melbourne

Identifiers

NCT: NCT06847282 · STUDY00160879 · 1U01NS137702-01

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗