Psychiatric Adults Patients Clinical Trial
— NPCPsyOfficial title:
Study Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
| Verified date | January 2017 |
| Source | University Hospital, Grenoble |
| Contact | n/a |
| Is FDA regulated | No |
| Health authority | |
| Study type | Interventional |
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.
| Status | Terminated |
| Enrollment | 22 |
| Est. completion date | December 2016 |
| Est. primary completion date | June 2016 |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | 18 Years and older |
| Eligibility |
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 |
| Country | Name | City | State |
|---|---|---|---|
| France | UniversityHospitalGrenoble | La Tronche |
| Lead Sponsor | Collaborator |
|---|---|
| University Hospital, Grenoble |
France,
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.
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. — View Citation
Bonnot O, Cohen D. [Psychiatric and cognitive signs associated with inborn errors of metabolism]. Rev Neurol (Paris). 2011 Dec;167(12):881-5. doi: 10.1016/j.neurol.2011.03.014. Review. French. — View Citation
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
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. — View Citation
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. — View Citation
Hulette CM, Earl NL, Anthony DC, Crain BJ. Adult onset Niemann-Pick disease type C presenting with dementia and absent organomegaly. Clin Neuropathol. 1992 Nov-Dec;11(6):293-7. — View Citation
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. — View Citation
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. — View Citation
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
NP-C Guidelines Working Group., Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, Pineda M, Sedel F, Topçu 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. — View Citation
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. — View Citation
Sévin 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. Review. — View Citation
Shulman LM, David NJ, Weiner WJ. Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C. Neurology. 1995 Sep;45(9):1739-43. Review. — View Citation
Shulman LM, Lang AE, Jankovic J, David NJ, Weiner WJ. Case 1, 1995: psychosis, dementia, chorea, ataxia, and supranuclear gaze dysfunction. Mov Disord. 1995 May;10(3):257-62. — View Citation
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. — View Citation
Turpin JC, Baumann N. [Presenting psychiatric and cognitive disorders in adult neurolipidoses]. Rev Neurol (Paris). 2003 Jul;159(6-7 Pt 1):637-47. Review. French. — View Citation
Tyvaert L, Stojkovic T, Cuisset JM, Vanier MT, Turpin JC, De Sèze 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. French. — View Citation
Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. Review. — View Citation
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. — View Citation
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. — View Citation
Webber D, Klünemann H Psychiatric manifestations of Niemann-Pick Disease European Psychiatric Review, 2011;4(1):25-31
* Note: There are 22 references in all — Click here to view all references
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Blood sampling | For patients with suspicion of Type C Niemann-Pick Disease, to determine blood/plasma oxysterols level. | 3 minutes | |
| Primary | 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. | 2 to 4 half days |