Clinical Trial Readiness Network FSHD France: Prospective 24 Months MRI Study

NCT04038138 | Active Not Recruiting DMC

• 1 other identifier: 19-PP-04
• Study Type: interventional
• Target: 100
• Locations: 1 country
• Sites: 3

Brief Summary

The overall aim of this study is to hasten drug development for facioscapulohumeral muscular dystrophy (FSHD). Recent breakthroughs in FSHD research have identified the primary disease mechanism as the aberrant expression of a normally silenced gene, DUX4, resulting in a toxic gain-of-function. This disease mechanism is particularly amenable to knock-down of DUX4 using epigenetic strategies or RNA therapies, as well as to other interventions targeting the downstream effects of DUX4 expression. There are many drug companies actively working towards disease-targeted therapies, and two clinical trials either under way now, or planned to start in early Fall 2016. However, meetings with industry, advocacy groups, and FSHD researchers have identified several gaps in the clinical trial arsenal, and clinical trial planning as a major goal for the community. Consequently, there is an urgent need to establish the tools necessary for the conduct of currently planned and expected therapeutic trials in FSHD. To this end, the researchers propose to develop two novel clinical outcome assessments (COA), a composite functional outcome measure (FSH-COM) and skeletal muscle biomarker, electrical impedance myography (EIM). In addition there is broad consensus a better understanding of the relationship of genetic and demographic features to disease progression will be necessary for enumerating eligibility criteria. The specific aims are to: 1. Determine the multi-site validity of the COAs, 2. Compare the responsiveness of new COAs to other FSHD outcomes and determine the minimal clinically meaningful changes, and 3. establish FSHD cohort characteristics useful for determining clinical trial eligibility criteria. To achieve these aims, the Nice University Hospital is conducting a monocentric, prospective, 18 month study on 30 subjects.

Conditions

Muscular Dystrophy; Facioscapulohumeral

Outcome Measures

Primary Outcomes (2)

• Validate FSHD-COM in French as COA

  The FSHD-COM is an 18-item evaluator-administered instrument comprised of individually validated functional motor tasks. The body regions represented match areas of importance identified by patients and include: leg function; shoulder and arm function; trunk function, hand function; and balance. Each item is scored on a 0-4 scale, with 0 representing unaffected/normal performance, and the divisions based on healthy population normative values, or the relative degree of ability to perform the functional task. The total scale has 72 points, with larger weight given to the two most frequently patient-cited areas of functional motor concern - leg function and shoulder and arm function.

  at baseline, 12, 18 and 24 months

• Validate optimized Timed Up and Go Test (optimized TUG) as COA

  Balance and mobility in patients able to walk at most 30 meters will be assessed using the optimized Timed Up and Go test (TUG). The optimized TUG test measures, in seconds, the time taken by patient to sit up from a lying down position (1st time interval); stand up from the mat (approximate height of 46 cm, walk 3 meters, turn, walk back to the mat, sit down (2nd time interval); and lie down to return to starting position (3rd time interval).

  at baseline, 12, 18 and 24 months

Secondary Outcomes (15)

• Change of the Motor Function Measure-32 (MFM-32) from Baseline to 12, 18 and 24 months

  at baseline, 12, 18 and 24 months

• Validate the Severity Scores (CSS) as COA

  at baseline, 12, 18 and 24 months

• Validate the Severity Scores (FCS) as COA

  at baseline, 12, 18 and 24 months

• Change of the Manual Muscle Testing (MMT) from Baseline to 12, 18 and 24 months

  at baseline, 12, 18 and 24 months

• Validate the Quantitative Muscle Testing (QMT) as COA

  at baseline, 12, 18 and 24 months

Study Arms (1)

Patient with facioscapulohumeral muscular dystrophy

EXPERIMENTAL

Diagnostic Test: Validation of new COA for FSHD patients

Interventions

Validation of new COA for FSHD patients DIAGNOSTIC_TEST

Monitoring of commonly used and news COA in patients with facioscapulohumeral muscular dystrophy

Patient with facioscapulohumeral muscular dystrophy

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Genetically confirmed FSHD1 or clinical diagnosis of FSHD with characteristic findings on exam and an affected parent or offspring 63
• Age 18-75 years
• Symptomatic limb weakness
• Patient able to walk alone or with a walking aid.
• Manual Muscle Testing (MMT) score ≥ 4 for one of the lower limb muscles
• Patient affiliated to the social security system
• Patient giving written consent after written and oral information.
• If taking over the counter supplements willing to remain consistent with supplement regimen throughout the course of the study

You may not qualify if:

• Cardiac or respiratory dysfunction (deemed clinically unstable, or would interfere with safe testing in the opinion of the Investigator)
• Orthopedic conditions that preclude safe testing of muscle function
• Regular use of available muscle anabolic/catabolic agents such as corticosteroids, oral testosterone or derivatives, or oral beta agonists
• Use of an experimental drug in an FSHD clinical trial within the past 30 days
• Pregnancy.
• Contraindication for muscle MRI
• Any major comorbidity

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nice: lead

Study Sites (3)

CHRU de Lille

Lille, Hauts-de-France, 59000, France

Location

CHU de Nice

Nice, Provence-Alpes-Côte d'Azur Region, 06000, France

Location

Myology institute Association

Paris, Île-de-France Region, 75013, France

Location

MeSH Terms

Conditions

Muscular Dystrophies

Condition Hierarchy (Ancestors)

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

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 26, 2019
• First Posted: July 30, 2019
• Study Start: September 16, 2019
• Primary Completion: September 3, 2025
• Study Completion (Estimated): September 3, 2026
• Last Updated: December 3, 2025

Record last verified: 2025-11

Locations

FR (3)