Clinical Trial: Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2
Study Status: Completed
Recruit Status: Unknown status
Study Type: Interventional
Official Title: Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2
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 Summary:
Sponsor: Centre Hospitalier Universitaire de Nice
Current Primary Outcome:
- Muscle damage measure [ Time Frame: One time at the inclusion ]
- Level of muscle damage [ Time Frame: One time at the inclusion ]
Original Primary Outcome: Same as current
Current Secondary Outcome:
Original Secondary Outcome:
Information By: Centre Hospitalier Universitaire de Nice
Dates:
Date Received: October 23, 2013
Date Started: October 2013
Date Completion:
Last Updated: December 10, 2013
Last Verified: October 2013
