Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2

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.

Study Overview

• Status: Completed
• Conditions: Muscular Dystrophy, Facioscapulohumeral
• Intervention / Treatment: Behavioral: Psychiatric test

• Study Type: Interventional
• Enrollment (Actual): 6
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Muriel LAFFON, Dr; Phone Number: +33 04 92 03 82 69; Email: laffon.m@chu-nice.fr

Study Locations

• France
  • Nice, France, 06002
    • Hopital PASTEUR

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 75 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

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)

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: FSHD patient	Behavioral: Psychiatric test

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Montgomery and Asberg Depression Rating Scale	One time at the inclusion
Hamilton Depression Rating Scale	One time at the inclusion
Hamilton Anxiety Rating Scale	One time at the inclusion
Quick inventory of depressive symptomatology Self report	One time at the inclusion
Quality of Life Enjoyment and Satisfaction Questionnaire - Short Form	One time at the inclusion
Mini Mental Status Evaluation	One time at the inclusion
Wechsler Adult Intelligence Scale	One time at the inclusion

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de Nice

Study record dates

Study Major Dates

• Study Start (Actual): October 20, 2014
• Primary Completion (Actual): July 1, 2015
• Study Completion (Actual): July 1, 2015

Study Registration Dates

• First Submitted: December 10, 2013
• First Submitted That Met QC Criteria: January 9, 2014
• First Posted (Estimated): January 10, 2014

Study Record Updates

• Last Update Posted (Estimated): November 14, 2023
• Last Update Submitted That Met QC Criteria: November 10, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophy, Facioscapulohumeral
• Other Study ID Numbers: 13-AOI-06

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No