Endophenotype Characterization of a Family Psychiatric Disorder
EnBiGen
1 other identifier
interventional
29
1 country
1
Brief Summary
Bipolar disorder is a chronic and frequent mood pathology, that impacts on emotional and socio-professional life of sick subjects, and also increase mortality by suicide. Suicide is considered as a bipolar disorder result. The main goal of this study is the endophenotype characterization from a clinical and cognitive point of view, of a bipolar spectrum's disorder present in a family, and then highlight a mutation of one of the genes involved is this disorder.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for not_applicable
Started Feb 2015
Typical duration for not_applicable
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
February 1, 2015
CompletedFirst Submitted
Initial submission to the registry
July 11, 2016
CompletedFirst Posted
Study publicly available on registry
July 26, 2016
CompletedPrimary Completion
Last participant's last visit for primary outcome
February 1, 2018
CompletedStudy Completion
Last participant's last visit for all outcomes
February 1, 2018
CompletedJuly 26, 2016
July 1, 2016
3 years
July 11, 2016
July 22, 2016
Conditions
Keywords
Outcome Measures
Primary Outcomes (3)
Neuropsychological evaluations tests
Neuropsychological evaluations (about one hour) : TMT (Trail Making Test) A and B, Stroop VFT (Visual Field Testing), DST (Dyslexia Screening Test) Tower of London test Hayling, CPT (continuous performance task) CVLT (California Verbal Learning Test) tests.
One day
Eye tracking.
The volunteer will follow an instruction according to the color seen on a screen. This instruction is to look at the side where there is a flashlight and to look at the opopsite if the light is unbroken. Mistakes will be count.
One hour
Blood sampling
Genetic sample for extraction of DNA.
3 minutes
Study Arms (1)
Healthy volunteers
OTHERMembers of a family
Interventions
Eligibility Criteria
You may qualify if:
- Members of a family adult (more than 18 years)
- Signed informed consents
- Registered to a French social security or possesor of the European Health Insurance Card
You may not qualify if:
- Clinical part :
- Refusal to sign the participation study consent.
- Organic affection likely to affect cognitive abilities and brain structures or acute decompensation of a bipolar disorder.
- Genetic part :
- Refusal to sign the genetic sample consent.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
UniversityHospitalGrenoble
La Tronche, 38700, France
Related Publications (55)
Adida M, Azorin JM, Fakra E, Belzeaux R, Kaladjian A, Pomietto P, Correard N. [Schizophrenia and/or bipolar disorder: neurobiological endophenotypes]. Encephale. 2012 Dec;38 Suppl 3:S98-102. doi: 10.1016/S0013-7006(12)70086-6. French.
PMID: 23279996BACKGROUNDAncin I, Santos JL, Teijeira C, Sanchez-Morla EM, Bescos MJ, Argudo I, Torrijos S, Vazquez-Alvarez B, De La Vega I, Lopez-Ibor JJ, Barabash A, Cabranes-Diaz JA. Sustained attention as a potential endophenotype for bipolar disorder. Acta Psychiatr Scand. 2010 Sep;122(3):235-45. doi: 10.1111/j.1600-0447.2009.01532.x. Epub 2010 Jan 25.
PMID: 20105148BACKGROUNDBadner JA, Koller D, Foroud T, Edenberg H, Nurnberger JI Jr, Zandi PP, Willour VL, McMahon FJ, Potash JB, Hamshere M, Grozeva D, Green E, Kirov G, Jones I, Jones L, Craddock N, Morris D, Segurado R, Gill M, Sadovnick D, Remick R, Keck P, Kelsoe J, Ayub M, MacLean A, Blackwood D, Liu CY, Gershon ES, McMahon W, Lyon GJ, Robinson R, Ross J, Byerley W. Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms. Mol Psychiatry. 2012 Jul;17(8):818-26. doi: 10.1038/mp.2011.89. Epub 2011 Jul 19.
PMID: 21769101BACKGROUNDBertelsen A, Harvald B, Hauge M. A Danish twin study of manic-depressive disorders. Br J Psychiatry. 1977 Apr;130:330-51. doi: 10.1192/bjp.130.4.330.
PMID: 558030BACKGROUNDBeynel L, Chauvin A, Guyader N, Harquel S, Szekely D, Bougerol T, Marendaz C. What saccadic eye movements tell us about TMS-induced neuromodulation of the DLPFC and mood changes: a pilot study in bipolar disorders. Front Integr Neurosci. 2014 Aug 19;8:65. doi: 10.3389/fnint.2014.00065. eCollection 2014.
PMID: 25191234BACKGROUNDBillieux J, Rochat L, Ceschi G, Carre A, Offerlin-Meyer I, Defeldre AC, Khazaal Y, Besche-Richard C, Van der Linden M. Validation of a short French version of the UPPS-P Impulsive Behavior Scale. Compr Psychiatry. 2012 Jul;53(5):609-15. doi: 10.1016/j.comppsych.2011.09.001. Epub 2011 Oct 27.
PMID: 22036009BACKGROUNDBrent D. In search of endophenotypes for suicidal behavior. Am J Psychiatry. 2009 Oct;166(10):1087-9. doi: 10.1176/appi.ajp.2009.09081131. No abstract available.
PMID: 19797437BACKGROUNDCardno AG, Marshall EJ, Coid B, Macdonald AM, Ribchester TR, Davies NJ, Venturi P, Jones LA, Lewis SW, Sham PC, Gottesman II, Farmer AE, McGuffin P, Reveley AM, Murray RM. Heritability estimates for psychotic disorders: the Maudsley twin psychosis series. Arch Gen Psychiatry. 1999 Feb;56(2):162-8. doi: 10.1001/archpsyc.56.2.162.
PMID: 10025441BACKGROUNDCermolacce M, Fakra E, Belzeaux R, Adida M, Azorin JM. [Schizophrenic and bipolar endophenotypes: the clinician's point of view]. Encephale. 2012 Dec;38 Suppl 3:S57-61. doi: 10.1016/S0013-7006(12)70078-7. French.
PMID: 23279988BACKGROUNDChauvin, A. et al. Saccadic inhibition - A trait biomarker of bipolar disorder. 16th Annual conference of the International Society for Bipolar Disorder (2014).
BACKGROUNDChiaroni P, Hantouche EG, Gouvernet J, Azorin JM, Akiskal HS. The cyclothymic temperament in healthy controls and familially at risk individuals for mood disorder: endophenotype for genetic studies? J Affect Disord. 2005 Mar;85(1-2):135-45. doi: 10.1016/j.jad.2003.12.010.
PMID: 15780684BACKGROUNDCourtet P, Gottesman II, Jollant F, Gould TD. The neuroscience of suicidal behaviors: what can we expect from endophenotype strategies? Transl Psychiatry. 2011;1(5):e7-. doi: 10.1038/tp.2011.6.
PMID: 21761009BACKGROUNDDaban C, Mathieu F, Raust A, Cochet B, Scott J, Etain B, Leboyer M, Bellivier F. Is processing speed a valid cognitive endophenotype for bipolar disorder? J Affect Disord. 2012 Jun;139(1):98-101. doi: 10.1016/j.jad.2012.02.028. Epub 2012 Mar 18.
PMID: 22429444BACKGROUNDDrancourt N, Etain B, Lajnef M, Henry C, Raust A, Cochet B, Mathieu F, Gard S, Mbailara K, Zanouy L, Kahn JP, Cohen RF, Wajsbrot-Elgrabli O, Leboyer M, Scott J, Bellivier F. Duration of untreated bipolar disorder: missed opportunities on the long road to optimal treatment. Acta Psychiatr Scand. 2013 Feb;127(2):136-44. doi: 10.1111/j.1600-0447.2012.01917.x. Epub 2012 Aug 20.
PMID: 22901015BACKGROUNDDuffy A, Lewitzka U, Doucette S, Andreazza A, Grof P. Biological indicators of illness risk in offspring of bipolar parents: targeting the hypothalamic-pituitary-adrenal axis and immune system. Early Interv Psychiatry. 2012 May;6(2):128-37. doi: 10.1111/j.1751-7893.2011.00323.x. Epub 2011 Dec 20.
PMID: 22182213BACKGROUNDEdvardsen J, Torgersen S, Roysamb E, Lygren S, Skre I, Onstad S, Oien PA. Heritability of bipolar spectrum disorders. Unity or heterogeneity? J Affect Disord. 2008 Mar;106(3):229-40. doi: 10.1016/j.jad.2007.07.001. Epub 2007 Aug 9.
PMID: 17692389BACKGROUNDFerrari AJ, Norman RE, Freedman G, Baxter AJ, Pirkis JE, Harris MG, Page A, Carnahan E, Degenhardt L, Vos T, Whiteford HA. The burden attributable to mental and substance use disorders as risk factors for suicide: findings from the Global Burden of Disease Study 2010. PLoS One. 2014 Apr 2;9(4):e91936. doi: 10.1371/journal.pone.0091936. eCollection 2014.
PMID: 24694747BACKGROUNDFerreira MA, O'Donovan MC, Meng YA, Jones IR, Ruderfer DM, Jones L, Fan J, Kirov G, Perlis RH, Green EK, Smoller JW, Grozeva D, Stone J, Nikolov I, Chambert K, Hamshere ML, Nimgaonkar VL, Moskvina V, Thase ME, Caesar S, Sachs GS, Franklin J, Gordon-Smith K, Ardlie KG, Gabriel SB, Fraser C, Blumenstiel B, Defelice M, Breen G, Gill M, Morris DW, Elkin A, Muir WJ, McGhee KA, Williamson R, MacIntyre DJ, MacLean AW, St CD, Robinson M, Van Beck M, Pereira AC, Kandaswamy R, McQuillin A, Collier DA, Bass NJ, Young AH, Lawrence J, Ferrier IN, Anjorin A, Farmer A, Curtis D, Scolnick EM, McGuffin P, Daly MJ, Corvin AP, Holmans PA, Blackwood DH, Gurling HM, Owen MJ, Purcell SM, Sklar P, Craddock N; Wellcome Trust Case Control Consortium. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet. 2008 Sep;40(9):1056-8. doi: 10.1038/ng.209.
PMID: 18711365BACKGROUNDFrey BN, Andreazza AC, Houenou J, Jamain S, Goldstein BI, Frye MA, Leboyer M, Berk M, Malhi GS, Lopez-Jaramillo C, Taylor VH, Dodd S, Frangou S, Hall GB, Fernandes BS, Kauer-Sant'Anna M, Yatham LN, Kapczinski F, Young LT. Biomarkers in bipolar disorder: a positional paper from the International Society for Bipolar Disorders Biomarkers Task Force. Aust N Z J Psychiatry. 2013 Apr;47(4):321-32. doi: 10.1177/0004867413478217. Epub 2013 Feb 14.
PMID: 23411094BACKGROUNDGeoffroy PA, Etain B, Jamain S, Bellivier F, Leboyer M. [Early onset bipolar disorder: validation from admixture analyses and biomarkers]. Can J Psychiatry. 2013 Apr;58(4):240-8. doi: 10.1177/070674371305800410. French.
PMID: 23547648BACKGROUNDGlahn DC, Almasy L, Barguil M, Hare E, Peralta JM, Kent JW Jr, Dassori A, Contreras J, Pacheco A, Lanzagorta N, Nicolini H, Raventos H, Escamilla MA. Neurocognitive endophenotypes for bipolar disorder identified in multiplex multigenerational families. Arch Gen Psychiatry. 2010 Feb;67(2):168-77. doi: 10.1001/archgenpsychiatry.2009.184.
PMID: 20124116BACKGROUNDGooding DC, Basso MA. The tell-tale tasks: a review of saccadic research in psychiatric patient populations. Brain Cogn. 2008 Dec;68(3):371-90. doi: 10.1016/j.bandc.2008.08.024. Epub 2008 Oct 23.
PMID: 18950927BACKGROUNDGottesman II, Gould TD. The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry. 2003 Apr;160(4):636-45. doi: 10.1176/appi.ajp.160.4.636.
PMID: 12668349BACKGROUNDHarvey AG. Sleep and circadian rhythms in bipolar disorder: seeking synchrony, harmony, and regulation. Am J Psychiatry. 2008 Jul;165(7):820-9. doi: 10.1176/appi.ajp.2008.08010098. Epub 2008 Jun 2.
PMID: 18519522BACKGROUNDHasler G, Drevets WC, Gould TD, Gottesman II, Manji HK. Toward constructing an endophenotype strategy for bipolar disorders. Biol Psychiatry. 2006 Jul 15;60(2):93-105. doi: 10.1016/j.biopsych.2005.11.006. Epub 2006 Jan 9.
PMID: 16406007BACKGROUNDHouenou J, Frommberger J, Carde S, Glasbrenner M, Diener C, Leboyer M, Wessa M. Neuroimaging-based markers of bipolar disorder: evidence from two meta-analyses. J Affect Disord. 2011 Aug;132(3):344-55. doi: 10.1016/j.jad.2011.03.016. Epub 2011 Apr 5.
PMID: 21470688BACKGROUNDHranov LG, Marinova P, Stoyanova M, Pandova M, Hranov G. Bipolar disorder - from endophenotypes to treatment. Psychiatr Danub. 2013 Sep;25(3):284-91.
PMID: 24048399BACKGROUNDJimenez-Trevino L, Blasco-Fontecilla H, Braquehais MD, Ceverino-Dominguez A, Baca-Garcia E. Endophenotypes and suicide behaviour. Actas Esp Psiquiatr. 2011 Jan-Feb;39(1):61-9. Epub 2011 Jan 1.
PMID: 21274823BACKGROUNDJollant F, Guillaume S, Jaussent I, Bellivier F, Leboyer M, Castelnau D, Malafosse A, Courtet P. Psychiatric diagnoses and personality traits associated with disadvantageous decision-making. Eur Psychiatry. 2007 Oct;22(7):455-61. doi: 10.1016/j.eurpsy.2007.06.001. Epub 2007 Aug 30.
PMID: 17764910BACKGROUNDJudd LL, Schettler PJ, Akiskal HS, Maser J, Coryell W, Solomon D, Endicott J, Keller M. Long-term symptomatic status of bipolar I vs. bipolar II disorders. Int J Neuropsychopharmacol. 2003 Jun;6(2):127-37. doi: 10.1017/S1461145703003341.
PMID: 12890306BACKGROUNDKendler KS. Twin studies of psychiatric illness. Current status and future directions. Arch Gen Psychiatry. 1993 Nov;50(11):905-15. doi: 10.1001/archpsyc.1993.01820230075007. No abstract available.
PMID: 8215816BACKGROUNDKendler KS. Twin studies of psychiatric illness: an update. Arch Gen Psychiatry. 2001 Nov;58(11):1005-14. doi: 10.1001/archpsyc.58.11.1005.
PMID: 11695946BACKGROUNDLatalova K, Prasko J, Diveky T, Velartova H. Cognitive impairment in bipolar disorder. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2011 Mar;155(1):19-26. doi: 10.5507/bp.155.2011.003.
PMID: 21475373BACKGROUNDLombardo LE, Bearden CE, Barrett J, Brumbaugh MS, Pittman B, Frangou S, Glahn DC. Trait impulsivity as an endophenotype for bipolar I disorder. Bipolar Disord. 2012 Aug;14(5):565-70. doi: 10.1111/j.1399-5618.2012.01035.x. Epub 2012 Jul 16.
PMID: 22805501BACKGROUNDMahon K, Perez-Rodriguez MM, Gunawardane N, Burdick KE. Dimensional endophenotypes in bipolar disorder: affective dysregulation and psychosis proneness. J Affect Disord. 2013 Nov;151(2):695-701. doi: 10.1016/j.jad.2013.08.003. Epub 2013 Aug 14.
PMID: 23993441BACKGROUNDMalsert J, Guyader N, Chauvin A, Polosan M, Poulet E, Szekely D, Bougerol T, Marendaz C. Antisaccades as a follow-up tool in major depressive disorder therapies: a pilot study. Psychiatry Res. 2012 Dec 30;200(2-3):1051-3. doi: 10.1016/j.psychres.2012.05.007. Epub 2012 May 28.
PMID: 22648007BACKGROUNDMalsert J, Guyader N, Chauvin A, Polosan M, Szekely D, Bougerol T, Marendaz C. Saccadic performance and cortical excitability as trait-markers and state-markers in rapid cycling bipolar disorder: a two-case follow-up study. Front Psychiatry. 2013 Jan 4;3:112. doi: 10.3389/fpsyt.2012.00112. eCollection 2012.
PMID: 23293609BACKGROUNDMann JJ, Arango VA, Avenevoli S, Brent DA, Champagne FA, Clayton P, Currier D, Dougherty DM, Haghighi F, Hodge SE, Kleinman J, Lehner T, McMahon F, Moscicki EK, Oquendo MA, Pandey GN, Pearson J, Stanley B, Terwilliger J, Wenzel A. Candidate endophenotypes for genetic studies of suicidal behavior. Biol Psychiatry. 2009 Apr 1;65(7):556-63. doi: 10.1016/j.biopsych.2008.11.021. Epub 2009 Feb 7.
PMID: 19201395BACKGROUNDMarian AJ. Sequencing your genome: what does it mean? Methodist Debakey Cardiovasc J. 2014 Jan-Mar;10(1):3-6. doi: 10.14797/mdcj-10-1-3.
PMID: 24932355BACKGROUNDMazzola-Pomietto P, Azorin JM, Belzeaux R, Fakra E, Adida M, Kaladjian A. [Are variations of structural neuro-anatomy promising endophenotype candidates in bipolar disorder?]. Encephale. 2012 Dec;38 Suppl 3:S75-80. doi: 10.1016/S0013-7006(12)70082-9. French.
PMID: 23279992BACKGROUNDMcGirr A, Alda M, Seguin M, Cabot S, Lesage A, Turecki G. Familial aggregation of suicide explained by cluster B traits: a three-group family study of suicide controlling for major depressive disorder. Am J Psychiatry. 2009 Oct;166(10):1124-34. doi: 10.1176/appi.ajp.2009.08111744. Epub 2009 Sep 15.
PMID: 19755577BACKGROUNDMendlowicz MV, Jean-Louis G, Kelsoe JR, Akiskal HS. A comparison of recovered bipolar patients, healthy relatives of bipolar probands, and normal controls using the short TEMPS-A. J Affect Disord. 2005 Mar;85(1-2):147-51. doi: 10.1016/j.jad.2004.01.012.
PMID: 15780685BACKGROUNDMerikangas KR, Akiskal HS, Angst J, Greenberg PE, Hirschfeld RM, Petukhova M, Kessler RC. Lifetime and 12-month prevalence of bipolar spectrum disorder in the National Comorbidity Survey replication. Arch Gen Psychiatry. 2007 May;64(5):543-52. doi: 10.1001/archpsyc.64.5.543.
PMID: 17485606BACKGROUNDMortensen PB, Pedersen CB, Melbye M, Mors O, Ewald H. Individual and familial risk factors for bipolar affective disorders in Denmark. Arch Gen Psychiatry. 2003 Dec;60(12):1209-15. doi: 10.1001/archpsyc.60.12.1209.
PMID: 14662553BACKGROUNDMyles-Worsley M, Tiobech J, Browning SR, Korn J, Goodman S, Gentile K, Melhem N, Byerley W, Faraone SV, Middleton FA. Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family. Am J Med Genet B Neuropsychiatr Genet. 2013 Mar;162B(2):87-95. doi: 10.1002/ajmg.b.32125. Epub 2013 Jan 22.
PMID: 23341099BACKGROUNDParmentier C, Etain B, Yon L, Misson H, Mathieu F, Lajnef M, Cochet B, Raust A, Kahn JP, Wajsbrot-Elgrabli O, Cohen R, Henry C, Leboyer M, Bellivier F. Clinical and dimensional characteristics of euthymic bipolar patients with or without suicidal behavior. Eur Psychiatry. 2012 Nov;27(8):570-6. doi: 10.1016/j.eurpsy.2011.05.005. Epub 2011 Oct 5.
PMID: 21978427BACKGROUNDPeters E, Joseph S, Day S, Garety P. Measuring delusional ideation: the 21-item Peters et al. Delusions Inventory (PDI). Schizophr Bull. 2004;30(4):1005-22. doi: 10.1093/oxfordjournals.schbul.a007116.
PMID: 15954204BACKGROUNDRoss J, Berrettini W, Coryell W, Gershon ES, Badner JA, Kelsoe JR, McInnis MG, McMahon FJ, Murphy DL, Nurnberger JI Jr, Foroud T, Rice JP, Scheftner WB, Zandi P, Edenberg H, Byerley W. Genome-wide parametric linkage analyses of 644 bipolar pedigrees suggest susceptibility loci at chromosomes 16 and 20. Psychiatr Genet. 2008 Aug;18(4):191-8. doi: 10.1097/YPG.0b013e3283050aa5.
PMID: 18628681BACKGROUNDSchurhoff F, Szoke A, Meary A, Bellivier F, Rouillon F, Pauls D, Leboyer M. Familial aggregation of delusional proneness in schizophrenia and bipolar pedigrees. Am J Psychiatry. 2003 Jul;160(7):1313-9. doi: 10.1176/appi.ajp.160.7.1313.
PMID: 12832247BACKGROUNDSmoller JW, Finn CT. Family, twin, and adoption studies of bipolar disorder. Am J Med Genet C Semin Med Genet. 2003 Nov 15;123C(1):48-58. doi: 10.1002/ajmg.c.20013.
PMID: 14601036BACKGROUNDSt Clair D, Blackwood D, Muir W, Carothers A, Walker M, Spowart G, Gosden C, Evans HJ. Association within a family of a balanced autosomal translocation with major mental illness. Lancet. 1990 Jul 7;336(8706):13-6. doi: 10.1016/0140-6736(90)91520-k.
PMID: 1973210BACKGROUNDVazquez GH, Kahn C, Schiavo CE, Goldchluk A, Herbst L, Piccione M, Saidman N, Ruggeri H, Silva A, Leal J, Bonetto GG, Zaratiegui R, Padilla E, Vilaprino JJ, Calvo M, Guerrero G, Strejilevich SA, Cetkovich-Bakmas MG, Akiskal KK, Akiskal HS. Bipolar disorders and affective temperaments: a national family study testing the "endophenotype" and "subaffective" theses using the TEMPS-A Buenos Aires. J Affect Disord. 2008 May;108(1-2):25-32. doi: 10.1016/j.jad.2007.09.011. Epub 2007 Nov 19.
PMID: 18006072BACKGROUNDVerdoux H, van Os J, Maurice-Tison S, Gay B, Salamon R, Bourgeois M. Is early adulthood a critical developmental stage for psychosis proneness? A survey of delusional ideation in normal subjects. Schizophr Res. 1998 Feb 9;29(3):247-54. doi: 10.1016/s0920-9964(97)00095-9.
PMID: 9516665BACKGROUNDWHO. The world health report 2001.
BACKGROUNDXu G, Lu W, Ouyang H, Dang Y, Guo Y, Miao G, Bessonov D, Akiskal KK, Akiskal HS, Lin K. Association of affective temperaments measured by TEMPS-a with cognitive deficits in patients with bipolar disorder. J Affect Disord. 2014 Jun;161:109-15. doi: 10.1016/j.jad.2014.03.005. Epub 2014 Mar 21.
PMID: 24751317BACKGROUND
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Jérôme Holtzmann, Doctor
Grenoble Hospital University
Central Study Contacts
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NA
- Masking
- NONE
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
July 11, 2016
First Posted
July 26, 2016
Study Start
February 1, 2015
Primary Completion
February 1, 2018
Study Completion
February 1, 2018
Last Updated
July 26, 2016
Record last verified: 2016-07