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

Centre Hospitalier Universitaire de Nice

Status: Completed

Conditions: Muscular Dystrophy, Facioscapulohumeral

Treatments: Biological: Blood test

Study type: Interventional

Funder types: Other

Identifiers

NCT01970735

13-AOI-01

Details and patient eligibility

About

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

Enrollment: 103 patients

Sex: All

Ages: 18 to 75 years old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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103 participants in 1 patient group

FSHD patient

Experimental group

Treatment:

Biological: Blood test