Comment Period Extended to 3/23/2015 for Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials

Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2

This study is not yet open for participant recruitment. (see Contacts and Locations)
Verified December 2013 by Centre Hospitalier Universitaire de Nice
Information provided by (Responsible Party):
Centre Hospitalier Universitaire de Nice Identifier:
First received: December 10, 2013
Last updated: January 9, 2014
Last verified: December 2013

The investigators propose to conduct a comparative pilot cognitive and psychiatric profiles of 10 patients Facio-Scapulo-Humeral Dystrophy (= FHSD) type 1 and 10 patients with type 2 FSHD study. For this, the investigators relied on observational components: FSHD2 patients appear more often present with psychiatric comorbidities and seem to have lower cognitive performance compared to FSHD1 patients. This was confirmed by a preliminary study on a small sample population of patients. It seems to exist mainly executive dysfunction associated with attention disorders in patients FSHD2. Moreover, their performance in IQ tests would be low in relation to their socio-educational and compared with patients FSHD1 level.

Condition Intervention
Muscular Dystrophy, Facioscapulohumeral
Behavioral: Psychiatric test

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Basic Science
Official Title: Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2

Resource links provided by NLM:

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

Primary Outcome Measures:
  • Montgomery and Asberg Depression Rating Scale [ Time Frame: One time at the inclusion ] [ Designated as safety issue: No ]
  • Hamilton Depression Rating Scale [ Time Frame: One time at the inclusion ] [ Designated as safety issue: No ]
  • Hamilton Anxiety Rating Scale [ Time Frame: One time at the inclusion ] [ Designated as safety issue: No ]
  • Quick inventory of depressive symptomatology Self report [ Time Frame: One time at the inclusion ] [ Designated as safety issue: No ]
  • Quality of Life Enjoyment and Satisfaction Questionnaire - Short Form [ Time Frame: One time at the inclusion ] [ Designated as safety issue: No ]
  • Mini Mental Status Evaluation [ Time Frame: One time at the inclusion ] [ Designated as safety issue: No ]
  • Wechsler Adult Intelligence Scale [ Time Frame: One time at the inclusion ] [ Designated as safety issue: No ]

Estimated Enrollment: 20
Study Start Date: January 2014
Estimated Primary Completion Date: October 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: FSHD patient Behavioral: Psychiatric 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 genetic confirmation

Exclusion Criteria:

  • Phosphokinase creatine level > 5 time of the normal
  • Patient as medical history :

    • A history or active neurological disease likely to interfere with the interpretation of results
    • a history of head trauma
    • an infectious disease, hormonal, inflammatory or some deficiency may induce cognitive and / or psychiatric troubles
    • Patient with cons-indication for performing a brain MRI
  • Pregnant, parturient and lactating (producing a serum pregnancy test)
  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: NCT02032979

Contact: Muriel LAFFON, Dr 04 92 03 82 69 ext +33

Hôpital Pasteur Not yet recruiting
Nice, France, 06002
Contact: Muriel LAFFON, Dr    04 92 03 82 69 ext +33   
Principal Investigator: Muriel LAFFON, Dr         
Sponsors and Collaborators
Centre Hospitalier Universitaire de Nice
  More Information

No publications provided

Responsible Party: Centre Hospitalier Universitaire de Nice Identifier: NCT02032979     History of Changes
Other Study ID Numbers: 13-AOI-06
Study First Received: December 10, 2013
Last Updated: January 9, 2014
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 March 03, 2015