Imaging and Gait Analysis in FSHD Patients

NCT07164937 | Enrolling By Invitation

• 1 other identifier: 6687
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic muscle disorder characterized by progressive and often asymmetric muscle weakness, with high variability in clinical severity and disease progression. This study aims to integrate advanced imaging and motion analysis technologies to comprehensively evaluate the impact of FSHD on muscle degeneration and motor functionality. The primary objective is to characterize the distribution and severity of muscle degeneration using magnetic resonance imaging (MRI) and correlate these findings with motor functionality profiles in a cohort of FSHD patients. Secondary objectives include: Describing gait and posture through the analysis of functional parameters using 3D-motion capture technologies. Quantifying changes in gait and posture parameters before and after personalized orthopedic interventions, assessed with functional clinical scales and 3D-motion capture analysis. This single-center, observational study will recruit 40 genetically confirmed FSHD patients from routine clinical follow-ups at the Policlinico Gemelli. Patients will undergo MRI to assess the degree of muscle fatty replacement (T1-score) and 3D Gait Analysis to capture biomechanical parameters such as kinematics, ground reaction forces, and muscle activation. Functional assessments will include tests like the Six-Minute Walk Test (6MWT) and Timed Up \& Go Test (TUG), alongside standardized scales for balance, fatigue, pain, and quality of life. The study seeks to identify novel clinical and biomechanical outcome measures that can stratify FSHD patients and evaluate therapeutic interventions. By correlating MRI patterns with motor deficits and analyzing the impact of orthopedic devices, the study aims to inform personalized rehabilitation strategies and support the design of clinical trials.

Conditions

FSHD - Facioscapulohumeral Muscular Dystrophy

Outcome Measures

Primary Outcomes (1)

• Global T1-score and Regional T1-score Correlation:

  Evaluation of the global T1-score and individual regional T1-scores (neck, shoulder girdle, trunk, pelvis, and lower limbs) derived from MRI ( minimun T1 score 0= normal; maximum T1 score 4= completely involved). Correlation of these scores with motor functionality parameters, including demographic data, clinical severity scales, functional clinical scales, and biomechanical parameters from 3D Gait Analysis.

  At the enrollement

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients affected by FSHD

You may qualify if:

• Age ≥ 18 years. Genetically confirmed diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD).
• Availability of:
• Muscle MRI images. 3D Gait Analysis data (with or without personalized orthopedic aids). Both MRI and Gait Analysis performed within a maximum interval of 6 months from each other.
• Regular neurological follow-ups as part of routine clinical care. Signed informed consent for participation in the study.

You may not qualify if:

• Age \< 18 years.
• Unavailability of:
• Muscle MRI images. 3D Gait Analysis data performed within a maximum interval of 6 months from each other.
• Refusal or inability to provide signed informed consent for participation in the study.

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

Study Sites (1)

UOC Neurologia

Rome, 00168, Italy

Location

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

• Enzo Ricci

  Fondazione Policlinico Universitario A. Gemelli, IRCCS

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 21, 2024
• First Posted: September 10, 2025
• Study Start: November 30, 2024
• Primary Completion: November 30, 2024
• Study Completion (Estimated): November 30, 2026
• Last Updated: September 10, 2025

Record last verified: 2024-09

Locations

IT (1)