Routine Health Care of Patients With FSHD (FSHD)

Course and Follow up of Patients Affected by Facioscapulohumeral Muscular Dystrophy

On the basis of published data and our results indicating that oxidative stress may contribute to the peripheral skeletal muscle dysfunction in patients with FSHD, investigators conducted a pilot randomized double-blind placebo controlled trial to test whether oral administration of vitamins and mineral could improve the physical performance of patients with FSHD.The result of this clinical trial showed that antioxidants supplementation may improve skeletal muscle function of patients with FSHD and suggest that an antioxidant strategy adapted may be a relevant therapeutic approach for these patients. Since then, patients with FSHD who attend consultation at Montpellier hospital are systematically supplemented with antioxidants according their own blood tests.

Study Overview

• Status: Completed
• Conditions: Primary Disease Fascioscapulohumeral Dystrophy (FSHD)
• Intervention / Treatment: Other: Followed with an initial assessment, 12 months and followed annually corresponding to the usual follow-up of the patient.

Detailed Description

This study will assess course of patients with FSHD in accordance with usual care performed within the Department of clinical physiology at the University hospital of Montpellier. This prospective longitudinal study include an initial assessment. Then the follow up of patients will be monitored at 12 months and annually. The eventual objective will be to develop a FSHD disease cohort in care at the Montpellier hospital. A statistical analysis will be performed at 3-years follow-up

• Study Type: Interventional
• Enrollment (Actual): 189
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Languedoc-Roussillon
    • Montpellier, Languedoc-Roussillon, France, 34294
      • Montpellier University Hospital- Saint Eloi Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 7 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Molecular and clinical diagnosis for FSHD
• patients, men and women aged > 7 years,

Exclusion Criteria:

• pregnant women
• Inability to understand the nature and goals of the study and / or communication difficulties with the investigator
• Major protected by law (guardianship, curatorship or under judicial protection)

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Supportive Care
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Course and follow up of patients affected by FSHD	Other: Followed with an initial assessment, 12 months and followed annually corresponding to the usual follow-up of the patient.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Effect of usual care performed at Montpellier hospital on the measurement of the maximal voluntary contraction (MVC) of quadriceps expressed in kg	12 months after inclusion
Effect of usual care performed at Montpellier hospital on the measurement of the maximal voluntary contraction (MVC) of quadriceps expressed in kg	24 months after inclusion
Effect of usual care performed at Montpellier hospital on the measurement of the maximal voluntary contraction (MVC) of quadriceps expressed in kg	36 months after inclusion
Effect of usual care performed at Montpellier hospital on the measurement of the maximal voluntary contraction (MVC) of quadriceps expressed in kg	48 months after inclusion
Effect of usual care performed at Montpellier hospital on the measurement of the maximal voluntary contraction (MVC) of quadriceps expressed in kg	1 day (the day of inclusion)
Effect of usual care performed at Montpellier hospital on the measurement of the maximal voluntary contraction (MVC) of quadriceps expressed in kg	60 months after inclusion

Secondary Outcome Measures

Outcome Measure	Time Frame
Effect of usual care performed at Montpellier hospital on quality of life (SF36 questionnaire)	12 months after inclusion
Effect of usual care performed at Montpellier hospital on quality of life (SF36 questionnaire)	24 months after inclusion
Effect of usual care performed at Montpellier hospital on quality of life (SF36 questionnaire)	36 months after inclusion
Effect of usual care performed at Montpellier hospital on physical activities (Vorrips questionnaire)	12 months after inclusion
Effect of usual care performed at Montpelier hospital on physical activities (Vorrips questionnaire)	24 months after inclusion
Effect of usual care performed at Montpelier hospital on physical activities (Vorrips questionnaire)	36 months after inclusion
Effect of usual care performed at Montpellier hospital on oxidative stress markers measured by laboratory tests	12 months after inclusion
Effect of usual care performed at Montpellier hospital on oxidative stress markers measured by laboratory tests	24 months after inclusion
Effect of usual care performed at Montpellier hospital on oxidative stress markers measured by laboratory tests	36 months after inclusion
Effect of usual care performed at Montpellier hospital on quality of life (SF36 questionnaire)	1 day (the day of inclusion)
Effect of usual care performed at Montpellier hospital on quality of life (SF36 questionnaire)	48 months after inclusion
Effect of usual care performed at Montpellier hospital on quality of life (SF36 questionnaire)	60 months after inclusion
Effect of usual care performed at Montpelier hospital on physical activities (Vorrips questionnaire)	1 day (the day of inclusion)
Effect of usual care performed at Montpelier hospital on physical activities (Vorrips questionnaire)	48 months after inclusion
Effect of usual care performed at Montpelier hospital on physical activities (Vorrips questionnaire)	60 months after inclusion
Effect of usual care performed at Montpellier hospital on oxidative stress markers measured by laboratory tests	1 day (the day of inclusion)
Effect of usual care performed at Montpellier hospital on oxidative stress markers measured by laboratory tests	48 months after inclusion
Effect of usual care performed at Montpellier hospital on oxidative stress markers measured by laboratory tests	60 months after inclusion

Collaborators and Investigators

• Sponsor: University Hospital, Montpellier
• Investigators: Principal Investigator: Jacques MERCIER, MD PhD, CHRU de Montpellier

Study record dates

Study Major Dates

• Study Start (Actual): April 19, 2015
• Primary Completion (Actual): July 3, 2024
• Study Completion (Actual): July 3, 2024

Study Registration Dates

• First Submitted: November 30, 2015
• First Submitted That Met QC Criteria: December 2, 2015
• First Posted (Estimated): December 4, 2015

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: February 20, 2025
• Last Verified: February 1, 2025

More Information

Terms related to this study

• Keywords: Antioxidants; Oxidative stress; Quality of life; FSHD; Muscle function; Co-morbidity; Usual care performed at Montpellier hospital; Physical activities, development of food-based dietary guidelines
• Other Study ID Numbers: 9371

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No