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

Not Applicable

Terminated

• Conditions: Psychiatric Adults Patients
• Interventions: Biological: Blood sampling; Biological: Biopsy

• Registration Number: NCT02841358
• Lead Sponsor: University Hospital, Grenoble

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.

Study Timeline

• Study Start: 2013-12
• Primary Completion: 2016-06
• Study First Submitted: 2016-07-11
• Study First Submitted QC: 2016-07-19
• Study First Posted: 2016-07-22
• Study Completion: 2016-12
• Status Verified: 2017-01
• Last Update Submitted: 2017-01-12
• Last Update Posted: 2017-01-13

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 22

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Psychiatric adults patients presenting psychologic disorders	Biopsy	-
Psychiatric adults patients presenting psychologic disorders	Blood sampling	-

Primary Outcome Measures

Name	Time	Method
Blood sampling	2 to 4 half days	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.

Trial Locations

Locations (1)

UniversityHospitalGrenoble; 🇫🇷 La Tronche, France