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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02841358
Recruitment Status : Terminated
First Posted : July 22, 2016
Last Update Posted : January 13, 2017
Information provided by (Responsible Party):
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.

Condition or disease Intervention/treatment Phase
Psychiatric Adults Patients Biological: Blood sampling Biological: Biopsy Not Applicable

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.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 22 participants
Allocation: N/A
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

Arm Intervention/treatment
Psychiatric adults patients presenting psychologic disorders Biological: Blood sampling
Biological: Biopsy

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

  2. 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.

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

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 identifier (NCT number): NCT02841358

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La Tronche, France, 38700
Sponsors and Collaborators
University Hospital, Grenoble
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Principal Investigator: Claire Buis, Doctor Grenoble Hospital University
Webber D, Klünemann H Psychiatric manifestations of Niemann-Pick Disease European Psychiatric Review, 2011;4(1):25-31
Bonnot O, Leroy A, Lucanto R, Cohen D Pourquoi s'intéresser à la maladie de Niemann-Pick de type C quand on est psychiatre d'enfant et d'adolescent Neuropsychiatrie de l'enfance et de l'adolescence 2011
Muller A, Balding DJ, Kluenemann HH, Linden D, Ory DS, Patterson MC, Pineda M, Priller J, Sedel F, Chadha-Boreham H, Wraith JE, Bauer P. Challenges in screening rare diseases: the ZOOM experience. Abstract accepté pour un poster au 28ème congrès de l'" International Society for Pharmacoepidemiology " Barcelone - août 2012" + données internes
American Psychiatric Association - DSM IV TR, Manuel diagnostique et statistique des troubles mentaux, 4° édition, Texte révisé (Washington DC, 2000), Traduction française par J-D Guelfi et al., Masson, Paris, 2003, 1120 p.

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Responsible Party: University Hospital, Grenoble Identifier: NCT02841358    
Other Study ID Numbers: 38RC13.200
First Posted: July 22, 2016    Key Record Dates
Last Update Posted: January 13, 2017
Last Verified: January 2017
Keywords provided by University Hospital, Grenoble:
Niemann-Pick Disease, Type C
Psychotic disorders
Additional relevant MeSH terms:
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Pick Disease of the Brain
Aphasia, Primary Progressive
Frontotemporal Dementia
Niemann-Pick Diseases
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Frontotemporal Lobar Degeneration
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurocognitive Disorders
Mental Disorders
Speech Disorders
Language Disorders
Communication Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
TDP-43 Proteinopathies
Neurodegenerative Diseases
Proteostasis Deficiencies
Metabolic Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Histiocytosis, Non-Langerhans-Cell
Lymphatic Diseases