NCT01970735

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

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 103 (actual)
• Sponsor: Centre Hospitalier Universitaire de Nice · Academic / Other
• Sex: All
• Age: 18 Years – 75 Years
• Healthy volunteers: Not accepted

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

Conditions

• Muscular Dystrophy, Facioscapulohumeral

Interventions

Type	Name	Description
BIOLOGICAL	Blood test

Timeline

• Start date: 2013-10-30
• Primary completion: 2014-12-16
• Completion: 2014-12-16
• First posted: 2013-10-28
• Last updated: 2023-11-14

Locations

1 site across 1 country: France