家族性精神障害のエンドフェノタイプの特徴付け (EnBiGen)
常染色体優性発現を伴う双極性スペクトラムの家族性精神障害のエンドフェノタイプの特徴付け
双極性障害は、慢性的かつ頻繁に起こる気分の病状であり、病気の被験者の感情的および社会的職業生活に影響を与え、自殺による死亡率も増加させます。 自殺は双極性障害の結果として考えられます。
この研究の主な目的は、家族内に存在する双極性スペクトラム障害の臨床的および認知的観点からエンドフェノタイプの特徴を明らかにし、この障害に関与する遺伝子の 1 つの変異を明らかにすることです。
調査の概要
詳細な説明
双極性障害の遺伝性は現在十分に確立されていますが、ほとんどの場合は多因子であるようです。
多くの双極性障害患者を抱える家族で特徴付けられる内部表現型を使用すると、この疾患に関与する遺伝子変異よりも単純な遺伝子変異の発現を反映することができ、この内部表現型の病因に関与する遺伝子の同定が可能になる可能性があります。
研究の種類
入学 (予想される)
段階
- 適用できない
連絡先と場所
研究場所
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La Tronche、フランス、38700
- 募集
- UniversityHospitalGrenoble
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コンタクト:
- Jérôme Holtzmann, Doctor
- 電話番号:04 76 76 54 14
- メール:JHoltzmann@chu-grenoble.fr
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コンタクト:
- John Rendu
- 電話番号:04 76 76 55 73
- メール:jrendu@chu-grenoble.fr
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参加基準
適格基準
就学可能な年齢
健康ボランティアの受け入れ
受講資格のある性別
説明
包含基準:
- 家族の大人(18歳以上)
- 署名されたインフォームドコンセント
- フランスの社会保障機関に登録されている、またはヨーロッパの健康保険カードの所有者に登録されている
除外基準:
臨床部分:
- 参加研究同意書への署名を拒否した。
- 器質的愛情は、認知能力や脳の構造、あるいは双極性障害の急性代償不全に影響を与える可能性があります。
遺伝的部分:
- 遺伝子サンプルの同意書への署名を拒否した。
研究計画
研究はどのように設計されていますか?
デザインの詳細
- 割り当て:なし
- 介入モデル:単一グループの割り当て
- マスキング:なし(オープンラベル)
武器と介入
参加者グループ / アーム |
介入・治療 |
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他の:健康ボランティア
家族の一員
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エンドフェノタイプと遺伝学的研究を描く
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この研究は何を測定していますか?
主要な結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
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神経心理学的評価検査
時間枠:ある日
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神経心理学的評価 (約 1 時間) : TMT(トレイルメイキングテスト)AおよびB、ストループVFT(視覚野テスト)、DST(ディスレクシアスクリーニングテスト)ロンドン塔テストヘイリング、CPT(継続的パフォーマンスタスク)CVLT(カリフォルニア言語学習テスト)テスト。 |
ある日
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アイトラッキング。
時間枠:一時間
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ボランティアは画面に表示される色に従って指示に従います。 この指示は、懐中電灯がある側を見て、光が切れていない場合は反対側を見るようにというものです。 間違いはカウントされます。 |
一時間
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採血
時間枠:3分
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DNAを抽出するための遺伝子サンプル。
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3分
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協力者と研究者
捜査官
- 主任研究者:Jérôme Holtzmann, Doctor、Grenoble Hospital University
出版物と役立つリンク
一般刊行物
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- Merikangas 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. Erratum In: Arch Gen Psychiatry. 2007 Sep;64(9):1039.
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- 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.
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- 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.
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- 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.
研究記録日
主要日程の研究
研究開始
一次修了 (予想される)
研究の完了 (予想される)
試験登録日
最初に提出
QC基準を満たした最初の提出物
最初の投稿 (見積もり)
学習記録の更新
投稿された最後の更新 (見積もり)
QC基準を満たした最後の更新が送信されました
最終確認日
詳しくは
この情報は、Web サイト clinicaltrials.gov から変更なしで直接取得したものです。研究の詳細を変更、削除、または更新するリクエストがある場合は、register@clinicaltrials.gov。 までご連絡ください。 clinicaltrials.gov に変更が加えられるとすぐに、ウェブサイトでも自動的に更新されます。
エンドフェノタイプとシーケンスの臨床試験
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Northwestern UniversityUniversity of Michigan; The University of Texas Health Science Center at San Antonio; University... と他の協力者完了
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Istituto per la Ricerca e l'Innovazione BiomedicaFondazione di Comunità di Messina onlus募集
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University of Southern CaliforniaNational Institutes of Health (NIH)積極的、募集していない