Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2

Not Applicable

Completed

• Conditions: Muscular Dystrophy, Facioscapulohumeral

• Registration Number: NCT01970735
• Lead Sponsor: Centre Hospitalier Universitaire de Nice

Brief Summary

The aim of the study was to compare the severity of illness between groups of patients (Facio-Scapulo-Humeral Dystrophy = FHSD1, FSHD2 and patients both FSHD1 and FSHD2).

Despite advances in research on the subject, answers are still needed on these diseases.

We also aim to determine whether the chromosomal genetic abnormality is involved in other diseases and the frequency of this mutation in the population of patients FSHD.

This study will increase our knowledge of the two forms of FSHD who present a common pathophysiological mechanism and may occur together in the same family with a worsening of the clinical phenotype worsening . In addition, epigenetic differences between FSHD type 1 and type 2 seems to have clinical consequences requiring appropriate management

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2013-10-23
• Study First Submitted QC: 2013-10-23
• Study First Posted: 2013-10-28
• Study Start: 2013-10-30
• Primary Completion: 2014-12-16
• Study Completion: 2014-12-16
• Status Verified: 2023-11
• Last Update Submitted: 2023-11-10
• Last Update Posted: 2023-11-14

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 103

Inclusion Criteria

• age ≥ 18 years and <75 years
• FSHD patients 1 or 2 with or without genetic confirmation

Exclusion Criteria

• Patient with all conditions considered by the investigator interfering with the proper conduct of the study.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Muscle damage measure	One time at the inclusion
Level of muscle damage	One time at the inclusion

Trial Locations

Locations (1)

Hôpital Archet 1; 🇫🇷 Nice, France