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

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2013 by Centre Hospitalier Universitaire de Nice
Information provided by (Responsible Party):
Centre Hospitalier Universitaire de Nice Identifier:
First received: October 23, 2013
Last updated: December 10, 2013
Last verified: October 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 Intervention
Muscular Dystrophy, Facioscapulohumeral
Biological: Blood test

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Basic Science
Official Title: Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2

Resource links provided by NLM:

Further study details as provided by Centre Hospitalier Universitaire de Nice:

Primary Outcome Measures:
  • Muscle damage measure [ Time Frame: One time at the inclusion ] [ Designated as safety issue: No ]
  • Level of muscle damage [ Time Frame: One time at the inclusion ] [ Designated as safety issue: No ]

Estimated Enrollment: 100
Study Start Date: October 2013
Estimated Primary Completion Date: October 2016 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: FSHD patient Biological: Blood test


Ages Eligible for Study:   18 Years to 75 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01970735

Contact: Sabrina SACCONI, Dr +33 492039002

Hôpital Archet 1 Recruiting
Nice, France, 06202
Contact: Sabrina SACCONI, Dr    +33 492039002   
Principal Investigator: Sabrina SACCONI, Dr         
Sponsors and Collaborators
Centre Hospitalier Universitaire de Nice
  More Information

Responsible Party: Centre Hospitalier Universitaire de Nice Identifier: NCT01970735     History of Changes
Other Study ID Numbers: 13-AOI-01 
Study First Received: October 23, 2013
Last Updated: December 10, 2013
Health Authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Facioscapulohumeral
Genetic Diseases, Inborn
Muscular Diseases
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Nervous System Diseases
Neuromuscular Diseases processed this record on May 26, 2016