Routine Health Care of Patients With FSHD

Study Overview
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Brief Summary
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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.

Detailed Description
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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 6 months and annually for a period of six years. The eventual objective will be to develop a FSHD disease cohort in care at the Montpellier hospital.

Official Title
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Course and Follow up of Patients Affected by Facioscapulohumeral Dystrophy

Conditions
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Primary Disease Fascioscapulohumeral Dystrophy (FSHD)

Intervention / Treatment
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* Other: Followed with an initial assessment, six months and followed annually for 3 years corresponding to the usual follow-up of the patient.


Participation Criteria
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Eligibility Criteria
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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)

Ages Eligible for Study
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Minimum Age: 7 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Supportive Care
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Course and follow up of patients affected by FSHD<br> | Other: Followed with an initial assessment, six months and followed annually for 3 years corresponding to the usual follow-up of the patient.<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | 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 |  | 72 months after inclusion | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Effect of usual care performed at Montpellier hospital on quality of life (SF36 questionnaire) |  | the day of inclusion | 
| 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 quality of life (SF36 questionnaire) |  | 72 months after inclusion | 
| Effect of usual care performed at Montpelier hospital on physical activities (Vorrips questionnaire) |  | the day of 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 Montpelier hospital on physical activities (Vorrips questionnaire) |  | 72 months after inclusion | 
| Effect of usual care performed at Montpellier hospital on oxidative stress markers measured by laboratory tests |  | the day of 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 oxidative stress markers measured by laboratory tests |  | 72 months after inclusion | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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FSHD, Usual care performed at Montpellier hospital, Muscle function, Antioxidants, Oxidative stress, Quality of life, Physical activities, development of food-based dietary guidelines, Co-morbidity