Clinical trial NCT02841358: Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
Official title: Study Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
Study type: INTERVENTIONAL
Overall status: TERMINATED
Phase: NA
Conditions: Psychiatric Adults Patients
Keywords: Niemann-Pick Disease, Type C
Psychiatric
Psychotic disorders
Lead sponsor: University Hospital, Grenoble
Sponsor class: OTHER
First posted: 2016-07-22
Enrollment: 22
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP

Brief summary: Niemann-Pick disease, Type C is a rare genetic disorder characterized by a failing in intracellular cholesterol transport, inducing an accumulation of sphingolipids in the brain.

Neurological signs are at the forefront of the disease. There are also psychiatric signs of psychotic kind among 28 to 45 % of patients according to studies, and a thirty cases were published. These signs can be concomitant with neurological signs or precede them.

Is is likely that psychotic disorders are the first signs of a Niemann-Pick disease not yet non encore diagnosed for some patients. Yet, no prevalence study for this disease in a psychiatric population of patients currently exists. In response to this problem this study proposes to search patients whose disease could be of organic origin or patients whose disease is suspected, based on clinical data. The diagnosis will be confirmed certified with a genetic and/or biochemical test.

Detailed description: The aim of this study is to search among a population psychotic adult patients, the ones that present a Type C Niemann-Pick disease in order to to estimate the prevalence.

Eligibility criteria: Inclusion Criteria:

* Hallucinations visual
* Confusion
* Catatonia
* Significant fluctuation of symptoms
* Unusual or paradoxical reaction to the treatment
* Progressive cognitive deterioration

Exclusion Criteria:

* Patients under 18 years
* Patients unable to give their free consent and without a legal representative
* Breastfeeding or pregnant women

Primary outcomes:
measure: Blood sampling
timeFrame: 3 minutes
measure: Blood sampling
timeFrame: 2 to 4 half days
Secondary outcomes:
Other outcomes:
Locations:
city: La Tronche
country: France
facility: UniversityHospitalGrenoble
Study officials:
affiliation: Grenoble Hospital University
name: Claire Buis, Doctor
role: PRINCIPAL_INVESTIGATOR
References:
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