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Psychiatric Adults PatientsNPCPsyNCT02841358

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

A study testing Blood sampling and Biopsy in people with Psychiatric Adults Patients, run by University Hospital, Grenoble at 1 site in France.

Terminated

Stopped early. The study ended before it was planned to and will not resume.

Official record
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Trial 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. Read more about this study

Who is it for?
Ages 18 years and older
Conditions the study is for
Psychiatric Adults Patients
What is being tested?
Blood sampling and Biopsy
Could I receive a placebo?
No, everyone receives an active treatment
How many people
22 participants
Where
1 siteFrance
Study dates
Dec 2013to Dec 2016
Phase
Interventional
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 years and older
  • All sexes
  • No healthy volunteers
  • Adult, Older adult

Who may be able to join

  • Hallucinations visual
  • Confusion
  • Catatonia
  • Significant fluctuation of symptoms
  • Unusual or paradoxical reaction to the treatment
  • Progressive cognitive deterioration

Who cannot join

  • Patients under 18 years
  • Patients unable to give their free consent and without a legal representative
  • Breastfeeding or pregnant women

Trial locations and contacts

1 site in 1 country.

France1 site

  • UniversityHospitalGrenoble

    La Tronche, 38700

Other trials in France

About this study

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

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.

Read the 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.

Being tested
Blood sampling, Biopsy
Keywords
Niemann-Pick Disease, Type C, Psychiatric, Psychotic disorders
Medical subject headings
Niemann-Pick Disease, Type C, Psychotic Disorders

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT02841358
Study groupRoleWhat they receive
Psychiatric adults patients presenting psychologic disordersOtherNot described
Receives: Biological: Blood sampling; Biological: Biopsy

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Blood sampling

    For patients with suspicion of Type C Niemann-Pick Disease, to determine blood/plasma oxysterols level.

    Measured: 3 minutes

  2. 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.

    Measured: 2 to 4 half days

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted22 Jul 2016 (estimated)
  2. Study startDec 2013
  3. Primary completionJun 2016
  4. Study completionDec 2016

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase N/A
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrolment
22 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT02841358
Sponsor's protocol ID
38RC13.200
Acronym
NPCPsy
Status last verified
Jan 2017
First submitted
11 Jul 2016
Last updated
13 Jan 2017
Results posted
No
Data monitoring committee
No

Publications

  • Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16.

    PubMed 20525256

  • NP-C Guidelines Working Group; Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, Pineda M, Sedel F, Topcu M, Vanier MT, Widner H, Wijburg FA, Patterson MC. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab. 2009 Sep-Oct;98(1-2):152-65. doi: 10.1016/j.ymgme.2009.06.008. Epub 2009 Jun 14.

    PubMed 19647672

  • Garver WS, Francis GA, Jelinek D, Shepherd G, Flynn J, Castro G, Walsh Vockley C, Coppock DL, Pettit KM, Heidenreich RA, Meaney FJ. The National Niemann-Pick C1 disease database: report of clinical features and health problems. Am J Med Genet A. 2007 Jun 1;143A(11):1204-11. doi: 10.1002/ajmg.a.31735.

    PubMed 17497724

  • Sevin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F. The adult form of Niemann-Pick disease type C. Brain. 2007 Jan;130(Pt 1):120-33. doi: 10.1093/brain/awl260. Epub 2006 Sep 26.

    PubMed 17003072

  • Webber D, Klünemann H Psychiatric manifestations of Niemann-Pick Disease European Psychiatric Review, 2011;4(1):25-31

  • Walterfang M, Fietz M, Abel L, Bowman E, Mocellin R, Velakoulis D. Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S221-6. doi: 10.1007/s10545-009-1173-1. Epub 2009 Jul 17.

    PubMed 19609713

  • Sandu S, Jackowski-Dohrmann S, Ladner A, Haberhausen M, Bachmann C. Niemann-Pick disease type C1 presenting with psychosis in an adolescent male. Eur Child Adolesc Psychiatry. 2009 Sep;18(9):583-5. doi: 10.1007/s00787-009-0010-2. Epub 2009 Mar 7.

    PubMed 19267177

  • Trendelenburg G, Vanier MT, Maza S, Millat G, Bohner G, Munz DL, Zschenderlein R. Niemann-Pick type C disease in a 68-year-old patient. J Neurol Neurosurg Psychiatry. 2006 Aug;77(8):997-8. doi: 10.1136/jnnp.2005.086785. No abstract available.

    PubMed 16844962

  • Walterfang M, Fietz M, Fahey M, Sullivan D, Leane P, Lubman DI, Velakoulis D. The neuropsychiatry of Niemann-Pick type C disease in adulthood. J Neuropsychiatry Clin Neurosci. 2006 Spring;18(2):158-70. doi: 10.1176/jnp.2006.18.2.158.

    PubMed 16720792

  • Tyvaert L, Stojkovic T, Cuisset JM, Vanier MT, Turpin JC, De Seze J, Vermersch P. [Presentation of Niemann-Pick type C disease with psychiatric disturbance in an adult]. Rev Neurol (Paris). 2005 Mar;161(3):318-22. doi: 10.1016/s0035-3787(05)85038-6. French.

    PubMed 15800453

  • Battisti C, Tarugi P, Dotti MT, De Stefano N, Vattimo A, Chierichetti F, Calandra S, Federico A. Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study. Mov Disord. 2003 Nov;18(11):1405-9. doi: 10.1002/mds.10541.

    PubMed 14639697

  • Turpin JC, Baumann N. [Presenting psychiatric and cognitive disorders in adult neurolipidoses]. Rev Neurol (Paris). 2003 Jul;159(6-7 Pt 1):637-47. French.

    PubMed 12910071

  • Josephs KA, Van Gerpen MW, Van Gerpen JA. Adult onset Niemann-Pick disease type C presenting with psychosis. J Neurol Neurosurg Psychiatry. 2003 Apr;74(4):528-9. doi: 10.1136/jnnp.74.4.528.

    PubMed 12640083

  • Imrie J, Vijayaraghaven S, Whitehouse C, Harris S, Heptinstall L, Church H, Cooper A, Besley GT, Wraith JE. Niemann-Pick disease type C in adults. J Inherit Metab Dis. 2002 Oct;25(6):491-500. doi: 10.1023/a:1021259403196.

    PubMed 12555942

  • Campo JV, Stowe R, Slomka G, Byler D, Gracious B. Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C. Dev Med Child Neurol. 1998 Feb;40(2):126-9. doi: 10.1111/j.1469-8749.1998.tb15374.x.

    PubMed 9489503

Questions about this trial

What is this clinical trial studying?

A study testing Blood sampling and Biopsy in people with Psychiatric Adults Patients, run by University Hospital, Grenoble at 1 site in France.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 6 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: stopped early, as of the sponsor's last update on 13 Jan 2017. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study was stopped early. Results are not available in the source record.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Blood sampling (time frame: 3 minutes). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT02841358, which also lists 22 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Jan 2017.

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