Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2
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|ClinicalTrials.gov Identifier: NCT01970735|
Recruitment Status : Unknown
Verified October 2013 by Centre Hospitalier Universitaire de Nice.
Recruitment status was: Recruiting
First Posted : October 28, 2013
Last Update Posted : December 11, 2013
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
|Condition or disease||Intervention/treatment||Phase|
|Muscular Dystrophy, Facioscapulohumeral||Biological: Blood test||Not Applicable|
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||100 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Primary Purpose:||Basic Science|
|Official Title:||Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2|
|Study Start Date :||October 2013|
|Estimated Primary Completion Date :||October 2016|
|Experimental: FSHD patient||
Biological: Blood test
- Muscle damage measure [ Time Frame: One time at the inclusion ]
- Level of muscle damage [ Time Frame: One time at the inclusion ]
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01970735
|Contact: Sabrina SACCONI, Dr||+33 email@example.com|
|Hôpital Archet 1||Recruiting|
|Nice, France, 06202|
|Contact: Sabrina SACCONI, Dr +33 492039002 firstname.lastname@example.org|
|Principal Investigator: Sabrina SACCONI, Dr|