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

Study Status: Terminated
Recruit Status: Terminated
Study Type: Interventional

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

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 Summary: 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.
Sponsor: University Hospital, Grenoble

Current Primary Outcome:

• Blood sampling [ Time Frame: 3 minutes ]
  For patients with suspicion of Type C Niemann-Pick Disease, to determine blood/plasma oxysterols level.
• Blood sampling [ Time Frame: 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.

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: University Hospital, Grenoble

Dates:
Date Received: July 11, 2016
Date Started: December 2013
Date Completion:
Last Updated: January 12, 2017
Last Verified: January 2017