Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2

Centre Hospitalier Universitaire de Nice

Status: Completed

Conditions: Muscular Dystrophy, Facioscapulohumeral

Treatments: Behavioral: Psychiatric test

Study type: Interventional

Funder types: Other

Identifiers

NCT02032979

13-AOI-06

Details and patient eligibility

About

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.

Enrollment: 6 patients

Sex: All

Ages: 18 to 75 years old

Volunteers: No 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)

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

---

6 participants in 1 patient group

FSHD patient

Experimental group

Treatment:

Behavioral: Psychiatric test