家庭精神障碍的内表型特征 (EnBiGen)
2016年7月22日 更新者：University Hospital, Grenoble
具有常染色体显性表达的双极谱系家族精神障碍的内表型特征
双相情感障碍是一种慢性且频繁发生的情绪病理，它会影响患者的情绪和社会职业生活，还会增加自杀死亡率。 自杀被认为是双相情感障碍的结果。
本研究的主要目标是从临床和认知的角度对一个家族中存在的双极谱系障碍进行内表型表征，然后突出显示该障碍涉及的其中一个基因的突变。
研究概览
详细说明
双相情感障碍的遗传性现已确定，但在大多数情况下似乎是多因素的。
使用以呈现大量双相情感障碍患者的家庭为特征的内表型，能够反映比涉及疾病的那些更简单的遗传变异的表达，并且可能能够鉴定参与该内表型的发病机制的基因。
研究类型
介入性
注册 (预期的)
29
阶段
- 不适用
联系人和位置
本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。
学习地点
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La Tronche、法国、38700
- 招聘中
- UniversityHospitalGrenoble
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接触：
- Jérôme Holtzmann, Doctor
- 电话号码：04 76 76 54 14
- 邮箱：JHoltzmann@chu-grenoble.fr
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接触：
- John Rendu
- 电话号码：04 76 76 55 73
- 邮箱：jrendu@chu-grenoble.fr
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参与标准
研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。
资格标准
适合学习的年龄
18年 及以上 (成人、年长者)
接受健康志愿者
是的
有资格学习的性别
全部
描述
纳入标准：
- 成年家庭成员（18 岁以上）
- 签署知情同意书
- 在法国社会保障机构注册或持有欧洲健康保险卡
排除标准：
临床部分：
- 拒绝签署参与研究同意书。
- 器质性情感可能影响认知能力和大脑结构或双相情感障碍的急性失代偿。
遗传部分：
- 拒绝签署基因样本同意书。
学习计划
本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。
研究是如何设计的？
设计细节
- 分配：不适用
- 介入模型：单组作业
- 屏蔽：无（打开标签）
武器和干预
参与者组/臂 |
干预/治疗 |
|---|---|
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其他：健康志愿者
家庭成员
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绘制内表型和遗传研究
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研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
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神经心理学评估测试
大体时间：一天
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神经心理评估（约一小时）： TMT（Trail Making Test）A 和 B、Stroop VFT（视野测试）、DST（阅读障碍筛选测试）伦敦塔测试 Hayling、CPT（持续性能任务）CVLT（加州口头学习测试）测试。 |
一天
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眼动追踪。
大体时间：一小时
|
志愿者将根据屏幕上看到的颜色遵循指示。 这条指令是看有手电筒的那一侧，如果灯不坏就看对面。 错误将被计算在内。 |
一小时
|
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采血
大体时间：3分钟
|
用于提取 DNA 的遗传样本。
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3分钟
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合作者和调查者
在这里您可以找到参与这项研究的人员和组织。
调查人员
- 首席研究员：Jérôme Holtzmann, Doctor、Grenoble Hospital University
出版物和有用的链接
负责输入研究信息的人员自愿提供这些出版物。这些可能与研究有关。
一般刊物
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- Beynel 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.
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- Cardno 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.
- Cermolacce 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.
- Chauvin, A. et al. Saccadic inhibition - A trait biomarker of bipolar disorder. 16th Annual conference of the International Society for Bipolar Disorder (2014).
- Chiaroni 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.
- Courtet 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.
- Daban 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.
- Drancourt 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.
- Duffy 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.
- Edvardsen 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.
- Ferrari 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.
- Ferreira 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.
- Geoffroy 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.
- Glahn 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.
- Gooding 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.
- Gottesman 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.
- Harvey 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.
- Hasler 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.
- Houenou 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.
- Hranov LG, Marinova P, Stoyanova M, Pandova M, Hranov G. Bipolar disorder - from endophenotypes to treatment. Psychiatr Danub. 2013 Sep;25(3):284-91.
- Jimenez-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.
- Jollant 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.
- Judd 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.
- Kendler 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.
- Kendler KS. Twin studies of psychiatric illness: an update. Arch Gen Psychiatry. 2001 Nov;58(11):1005-14. doi: 10.1001/archpsyc.58.11.1005.
- Latalova 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.
- Lombardo 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.
- Mahon 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.
- Malsert 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.
- Malsert 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.
- Mann 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.
- Marian 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.
- Mazzola-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.
- McGirr 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.
- Mendlowicz 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.
- Mortensen 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.
- Myles-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.
- Parmentier 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.
- Ross 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.
- Schurhoff 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.
- Smoller 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.
- St 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.
- Vazquez 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.
- Verdoux 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.
- Bebbington P. The World Health Report 2001. Soc Psychiatry Psychiatr Epidemiol. 2001 Oct;36(10):473-4. doi: 10.1007/s001270170010. No abstract available.
- Xu 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.
研究记录日期
这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。
研究主要日期
学习开始
2015年2月1日
初级完成 (预期的)
2018年2月1日
研究完成 (预期的)
2018年2月1日
研究注册日期
首次提交
2016年7月11日
首先提交符合 QC 标准的
2016年7月22日
首次发布 (估计)
2016年7月26日
研究记录更新
最后更新发布 (估计)
2016年7月26日
上次提交的符合 QC 标准的更新
2016年7月22日
最后验证
2016年7月1日
更多信息
此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.