## Protocol Section
### Identification Module
**NCT ID:** 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

#### Organization Study ID Info
**ID:** 13-AOI-06
#### Organization
**Class:** OTHER
**Full Name:** Centre Hospitalier Universitaire de Nice
### Status Module
#### Completion Date
**Date:** 2015-07-01

**Type:** ACTUAL

#### Expanded Access Info
#### Last Update Post Date
**Date:** 2023-11-14

**Type:** ACTUAL

**Last Update Submit Date:** 2023-11-10

**Overall Status:** COMPLETED

#### Primary Completion Date
**Date:** 2015-07-01

**Type:** ACTUAL

#### Start Date
**Date:** 2014-10-20

**Type:** ACTUAL

**Status Verified Date:** 2023-11

#### Study First Post Date
**Date:** 2014-01-10
**Type:** ESTIMATED
**Study First Submit Date:** 2013-12-10
**Study First Submit QC Date:** 2014-01-09
### Sponsor Collaborators Module

#### Lead Sponsor

**Class:** OTHER

**Name:** Centre Hospitalier Universitaire de Nice

#### Responsible Party

**Type:** SPONSOR

### Oversight Module

**Oversight Has DMC:** False

### Description Module

**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.

### Conditions Module

**Conditions:**

- Muscular Dystrophy, Facioscapulohumeral

### Design Module

#### Design Info

**Allocation:** NA

**Intervention Model:** SINGLE_GROUP

##### Masking Info

**Masking:** NONE

**Primary Purpose:** BASIC_SCIENCE

#### Enrollment Info

**Count:** 6

**Type:** ACTUAL

**Phases:**

- NA

**Study Type:** INTERVENTIONAL

### Arms Interventions Module

#### Arm Group 1

**Intervention Names:**

- Behavioral: Psychiatric test

**Label:** FSHD patient

**Type:** EXPERIMENTAL

### Interventions

#### Intervention 1

**Arm Group Labels:**

- FSHD patient

**Name:** Psychiatric test

**Type:** BEHAVIORAL

### Outcomes Module

#### Primary Outcomes

**Measure:** Montgomery and Asberg Depression Rating Scale

**Time Frame:** One time at the inclusion

**Measure:** Hamilton Depression Rating Scale

**Time Frame:** One time at the inclusion

**Measure:** Hamilton Anxiety Rating Scale

**Time Frame:** One time at the inclusion

**Measure:** Quick inventory of depressive symptomatology Self report

**Time Frame:** One time at the inclusion

**Measure:** Quality of Life Enjoyment and Satisfaction Questionnaire - Short Form

**Time Frame:** One time at the inclusion

**Measure:** Mini Mental Status Evaluation

**Time Frame:** One time at the inclusion

**Measure:** Wechsler Adult Intelligence Scale

**Time Frame:** One time at the inclusion

### Eligibility Module

**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)

**Maximum Age:** 75 Years

**Minimum Age:** 18 Years

**Sex:** ALL

**Standard Ages:**

- ADULT

- OLDER_ADULT

### Contacts Locations Module

#### Locations

**Location 1:**

**City:** Nice

**Country:** France

**Facility:** Hôpital Pasteur

**Zip:** 06002

## Derived Section

### Condition Browse Module - Ancestors

- ID: D000020966

- Term: Muscular Disorders, Atrophic

- ID: D000009135

- Term: Muscular Diseases

- ID: D000009140

- Term: Musculoskeletal Diseases

- ID: D000009468

- Term: Neuromuscular Diseases

- ID: D000009422

- Term: Nervous System Diseases

- ID: D000030342

- Term: Genetic Diseases, Inborn

### Condition Browse Module - Browse Branches

- Abbrev: BC05

- Name: Musculoskeletal Diseases

- Abbrev: BC10

- Name: Nervous System Diseases

- Abbrev: BC16

- Name: Diseases and Abnormalities at or Before Birth

- Abbrev: All

- Name: All Conditions

- Abbrev: BC23

- Name: Symptoms and General Pathology

- Abbrev: Rare

- Name: Rare Diseases

### Condition Browse Module - Browse Leaves

- ID: M12093

- Name: Muscular Dystrophies

- Relevance: HIGH

- As Found: Muscular Dystrophy

- ID: M22188

- Name: Muscular Dystrophy, Facioscapulohumeral

- Relevance: HIGH

- As Found: Muscular Dystrophy, Facioscapulohumeral

- ID: M4589

- Name: Atrophy

- Relevance: LOW

- As Found: Unknown

- ID: M12092

- Name: Muscular Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M22697

- Name: Muscular Disorders, Atrophic

- Relevance: LOW

- As Found: Unknown

- ID: M12097

- Name: Musculoskeletal Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M12411

- Name: Neuromuscular Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M23686

- Name: Genetic Diseases, Inborn

- Relevance: LOW

- As Found: Unknown

- ID: T3963

- Name: Muscular Dystrophy

- Relevance: HIGH

- As Found: Muscular Dystrophy

- ID: T2182

- Name: Facioscapulohumeral Muscular Dystrophy

- Relevance: HIGH

- As Found: Muscular Dystrophy, Facioscapulohumeral

### Condition Browse Module - Meshes

- ID: D000009136

- Term: Muscular Dystrophies

- ID: D000020391

- Term: Muscular Dystrophy, Facioscapulohumeral

### Misc Info Module

- Version Holder: 2024-05-24
