Screening of Niemann-Pick Disease, Type C in a Psychiatric Population

Study Overview
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Brief Summary
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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
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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.

Official Title
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Study Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric Population

Conditions
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Psychiatric Adults Patients

Intervention / Treatment
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* Biological: Blood sampling
* Biological: Biopsy


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Psychiatric adults patients presenting psychologic disorders<br> | Biological: Blood sampling<br> <br> Biological: Biopsy<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Blood sampling | For patients with suspicion of Type C Niemann-Pick Disease, to determine blood/plasma oxysterols level. | 3 minutes | 
| Blood sampling | For patients with no longer suspicion of Type C Niemann-Pick Disease, according to blood/plasma oxysterols level, for genotyping with the search of NPC 1 or NPC 2 mutation. | 2 to 4 half days | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Niemann-Pick Disease, Type C, Psychiatric, Psychotic disorders