Screening of Niemann-Pick Disease, Type C in a Psychiatric Population (NPCPsy)
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|ClinicalTrials.gov Identifier: NCT02841358|
Recruitment Status : Terminated
First Posted : July 22, 2016
Last Update Posted : January 13, 2017
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.
|Condition or disease||Intervention/treatment||Phase|
|Psychiatric Adults Patients||Biological: Blood sampling Biological: Biopsy||Not Applicable|
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||22 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Study Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric Population|
|Study Start Date :||December 2013|
|Actual Primary Completion Date :||June 2016|
|Actual Study Completion Date :||December 2016|
|Psychiatric adults patients presenting psychologic disorders||
Biological: Blood sampling
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02841358
|La Tronche, France, 38700|
|Principal Investigator:||Claire Buis, Doctor||Grenoble Hospital University|