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Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2

Primary Purpose

Muscular Dystrophy, Facioscapulohumeral

Status
Unknown status
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Psychiatric test
Sponsored by
Centre Hospitalier Universitaire de Nice
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional basic science trial for Muscular Dystrophy, Facioscapulohumeral

Eligibility Criteria

18 Years - 75 Years (Adult, Older Adult)All SexesDoes not accept healthy volunteers

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)

Sites / Locations

  • Hôpital PasteurRecruiting

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

FSHD patient

Arm Description

Outcomes

Primary Outcome Measures

Montgomery and Asberg Depression Rating Scale
Hamilton Depression Rating Scale
Hamilton Anxiety Rating Scale
Quick inventory of depressive symptomatology Self report
Quality of Life Enjoyment and Satisfaction Questionnaire - Short Form
Mini Mental Status Evaluation
Wechsler Adult Intelligence Scale

Secondary Outcome Measures

Full Information

First Posted
December 10, 2013
Last Updated
August 10, 2017
Sponsor
Centre Hospitalier Universitaire de Nice
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1. Study Identification

Unique Protocol Identification Number
NCT02032979
Brief Title
Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2
Official Title
Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2
Study Type
Interventional

2. Study Status

Record Verification Date
August 2017
Overall Recruitment Status
Unknown status
Study Start Date
February 2014 (Actual)
Primary Completion Date
October 2014 (Actual)
Study Completion Date
December 2017 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Centre Hospitalier Universitaire de Nice

4. Oversight

Data Monitoring Committee
No

5. Study Description

Brief Summary
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Muscular Dystrophy, Facioscapulohumeral

7. Study Design

Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
20 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
FSHD patient
Arm Type
Experimental
Intervention Type
Behavioral
Intervention Name(s)
Psychiatric test
Primary Outcome Measure Information:
Title
Montgomery and Asberg Depression Rating Scale
Time Frame
One time at the inclusion
Title
Hamilton Depression Rating Scale
Time Frame
One time at the inclusion
Title
Hamilton Anxiety Rating Scale
Time Frame
One time at the inclusion
Title
Quick inventory of depressive symptomatology Self report
Time Frame
One time at the inclusion
Title
Quality of Life Enjoyment and Satisfaction Questionnaire - Short Form
Time Frame
One time at the inclusion
Title
Mini Mental Status Evaluation
Time Frame
One time at the inclusion
Title
Wechsler Adult Intelligence Scale
Time Frame
One time at the inclusion

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Maximum Age & Unit of Time
75 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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)
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Muriel LAFFON, Dr
Phone
04 92 03 82 69
Ext
+33
Email
laffon.m@chu-nice.fr
Facility Information:
Facility Name
Hôpital Pasteur
City
Nice
ZIP/Postal Code
06002
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Muriel LAFFON, Dr
Phone
04 92 03 82 69
Ext
+33
Email
laffon.m@chu-nice.fr
First Name & Middle Initial & Last Name & Degree
Muriel LAFFON, Dr

12. IPD Sharing Statement

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Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2

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