Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2
- Conditions
- Muscular Dystrophy, Facioscapulohumeral
- Interventions
- Biological: Blood test
- 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
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 103
- age ≥ 18 years and <75 years
- FSHD patients 1 or 2 with or without genetic confirmation
- 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
- Arm && Interventions
Group Intervention Description FSHD patient Blood test -
- Primary Outcome Measures
Name Time Method Muscle damage measure One time at the inclusion Level of muscle damage One time at the inclusion
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Hôpital Archet 1
🇫🇷Nice, France