Klinické a genetické hodnocení jedinců s nediagnostikovanými poruchami prostřednictvím sítě nediagnostikovaných onemocnění
10. června 2026 aktualizováno: National Human Genome Research Institute (NHGRI)
Klinické a genetické hodnocení pacientů s nediagnostikovanými poruchami prostřednictvím sítě nediagnostikovaných onemocnění
Pozadí:
- Bez vysvětlení závažných a někdy život ohrožujících příznaků jsou pacienti a jejich rodiny ponecháni ve stavu neznáma. NIH pomohla vytvořit síť lékařských výzkumných středisek nazvanou Undiagnosed Diseases Network (UDN), aby poskytovala péči a odpovědi pro tyto jednotlivce.
Cíle:
- Zlepšit diagnostiku a péči o lidi s nediagnostikovanými chorobami.
Způsobilost:
- Lidé s nediagnostikovaným onemocněním a jejich příbuzní.
Design:
Účastníci pojedou do jednoho z lékařských center UDN na 5denní klinickou a výzkumnou návštěvu.
V rámci návštěvy mohou poskytovatelé zdravotní péče UDN požádat účastníky, aby:
Provedené klinicky indikované testy a postupy, včetně:
- Fyzická zkouška
- Testy krve a moči
- Přehled zdraví a rodinné anamnézy
- Rentgenové záření a skenování těla
- Průzkumy
- Fotografie obličeje a těla
- Speciální dieta, aby se zjistilo, zda tělo zvládne jídlo bez reakce, jako je zvracení
- Video nebo hlasové záznamy
- Další testy a postupy, které pomohou dosáhnout diagnózy
Provedené výzkumné testy a postupy včetně:
- Biopsie kůže. K tomu bude odebrán malý kousek kůže.
- Průzkumy
- Další testy a postupy pro výzkum, které nemusí souviset s diagnózou nebo léčbou.
- Většina účastníků bude požádána o poskytnutí vzorků pro genetické testování.
- Účastníci mohou být po návštěvě kontaktováni a prodiskutovat výsledky testů. Mohou být také v budoucnu kontaktováni pro rozhovory a průzkumy.
- Příbuzní účastníků mohou být požádáni, aby poskytli vzorky pro genetické testování. Mohou být požádáni, aby části své návštěvy zaznamenali a aby podstoupili další testy. Mohou být také v budoucnu kontaktováni pro rozhovory a průzkumy.
- Shromážděné klinické a výzkumné informace budou uloženy v databázi.
- Shromážděné informace a vzorky budou sdíleny s ostatními pro výzkumné účely.
Přehled studie
Postavení
Nábor
Podmínky
Detailní popis
Bez vysvětlení závažných a někdy život ohrožujících příznaků jsou pacienti a jejich rodiny ponecháni ve stavu neznáma.
Mnoho jedinců se ocitne předáváni z lékaře na lékaře, podstupují nespočetné a často se opakující testy v naději, že najdou odpovědi a vhled do budoucnosti.
Tato dlouhá a namáhavá cesta za nalezením diagnózy pro mnoho pacientů nekončí – Úřad pro výzkum vzácných onemocnění (ORDR) poznamenává, že 6 % jedinců hledajících jejich pomoc má nediagnostikovanou poruchu.
V roce 2008 byl založen Program nediagnostikovaných nemocí (UDP) National Institutes of Health (NIH) s cílem poskytovat péči a odpovědi těmto jedincům se záhadnými stavy, kteří dlouho unikali diagnóze.
NIH UDP je společným podnikem NIH ORDR, Národního programu pro výzkum lidského genomu pro intramurální výzkum (NHGRI-IRP) a Centra klinického výzkumu NIH (CRC).
Cíle NIH UDP jsou: (1) poskytnout odpovědi pacientům s nediagnostikovanými chorobami; (2) vytvářet nové poznatky o mechanismech onemocnění; (3) posoudit aplikaci nových přístupů k fenotypizaci a použití genomických technologií; a (4) identifikovat potenciální terapeutické cíle, je-li to možné.
Před vytvořením sítě Undiagnosed Diseases Network (UDN) UDP vyhodnotila 3300 lékařských záznamů, přijala 750 jedinců se vzácnými a nediagnostikovanými onemocněními do klinického centra NIH a identifikovala více než 70 diagnóz vzácných onemocnění a několik nových stavů.
Úspěch NIH UDP přiměl Společný fond NIH k podpoře zřízení sítě lékařských výzkumných center, UDN, na fiskální roky 2013-2022.
Klinická pracoviště provádějí rozsáhlé fenotypování, genetické analýzy a funkční studie potenciálních variant způsobujících onemocnění.
Testování prováděné na pacientech zahrnuje lékařsky indikované studie, které mají pomoci dosáhnout diagnózy, stejně jako výzkumná šetření, která zahrnují biopsii kůže, odběry krve a analýzu DNA.
Kromě toho UDN podporuje cíle UDP tím, že umožňuje sdílení osobně identifikovatelných fenotypových a genotypových informací v rámci sítě.
Sdílením informací o účastnících a podporou spolupráce UDN doufá, že zlepší porozumění vzácným onemocněním a pokročí v diagnostickém procesu a péči o jedince s nediagnostikovanými chorobami.
Typ studie
Pozorovací
Zápis (Odhadovaný)
20000
Kontakty a umístění
Tato část poskytuje kontaktní údaje pro ty, kteří studii provádějí, a informace o tom, kde se tato studie provádí.
Studijní kontakt
- Jméno: Paul Mazur
- Telefonní číslo: (844) 746-4836
- E-mail: udn@hms.harvard.edu
Studijní místa
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Alabama
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Birmingham, Alabama, Spojené státy, 35233
- Nábor
- University of Alabama at Birmingham
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Kontakt:
- Bruce Korf, M.D.
- E-mail: bkorf@uab.edu
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Huntsville, Alabama, Spojené státy, 35806
- Dokončeno
- HudsonAlpha Institute for Biotechnology, Inc.
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California
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Los Angeles, California, Spojené státy, 90095
- Nábor
- University of California, Los Angeles
-
Kontakt:
- Stanley Nelson, M.D.
- Telefonní číslo: 310-794-7981
- E-mail: snelson@ucla.edu
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Orange, California, Spojené státy, 92668
- Nábor
- University of California, Irvine Medical Center
-
Kontakt:
- Changrui Xiao, M.D.
- Telefonní číslo: 714-456-7720
- E-mail: changrx@hs.uci.edu
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Stanford, California, Spojené státy, 94305
- Nábor
- Leland Stanford Junior University
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Kontakt:
- Euan Ashley, MD, PhD
- Telefonní číslo: Not Listed
- E-mail: euan@stanford.edu
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Stanford, California, Spojené státy, 94305
- Nábor
- Stanford Hospital and Clinics
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Kontakt:
- Jonathan Bernstein, MD, PhD
- Telefonní číslo: Not Listed
- E-mail: jon.bernstein@stanford.edu
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Stanford, California, Spojené státy, 94020
- Dokončeno
- Lucile Salter Packard Children's Hospital at Stanford
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Stanford, California, Spojené státy, 94305-5584
- Nábor
- Stanford University
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Kontakt:
- Euan Ashley, M.D.
- Telefonní číslo: 650-736-1147
- E-mail: euan@stanford.edu
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District of Columbia
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Washington D.C., District of Columbia, Spojené státy, 20010
- Nábor
- Childrens National Medical Center
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Kontakt:
- Eric Vilain, M.D.
- Telefonní číslo: 202-476-3216
- E-mail: evilain@childrensnational.org
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Florida
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Miami, Florida, Spojené státy, 33136
- Nábor
- University of Miami Miller School of Medicine
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Kontakt:
- Mustafa Tekin, MD
- Telefonní číslo: 305-243-2381
- E-mail: mtekin@med.miami.edu
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Illinois
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Chicago, Illinois, Spojené státy, 60611
- Zatím nenabíráme
- Lurie Children s Hospital
-
Kontakt:
- Carlos Prada, M.D.
- Telefonní číslo: 513-304-8906
- E-mail: cprada@luriechildrens.org
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Indiana
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Indianapolis, Indiana, Spojené státy, 46202-5262
- Nábor
- Indiana University
-
Kontakt:
- Stephane Ware, M.D.
- Telefonní číslo: 317-274-8938
- E-mail: stware@iu.edu
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Maryland
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Bethesda, Maryland, Spojené státy, 20892
- Nábor
- National Institutes of Health Clinical Center
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Kontakt:
- For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
- Telefonní číslo: TTY dial 711 800-411-1222
- E-mail: ccopr@nih.gov
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Massachusetts
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Boston, Massachusetts, Spojené státy, 02115
- Nábor
- Brigham and Women's Hospital
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Kontakt:
- David Sweetser, M.D., Ph.D.
- Telefonní číslo: 617-726-1742
- E-mail: dsweetser@partners.org
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Boston, Massachusetts, Spojené státy, 02114
- Nábor
- Massachusetts General Hospital
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Kontakt:
- David Sweetser, M.D.
- Telefonní číslo: 617-726-1742
- E-mail: dsweetser@partners.org
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Boston, Massachusetts, Spojené státy, 02115
- Nábor
- Boston Children s Hospital
-
Kontakt:
- Ingrid Holm, M.D.
- Telefonní číslo: 617-919-2338
- E-mail: ingrid.holm@childrens.harvard.edu
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Boston, Massachusetts, Spojené státy, 02115
- Zatím nenabíráme
- Harvard U Faculty of Medicine
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Kontakt:
- Isaac Kohane
- Telefonní číslo: Not Listed
- E-mail: isaac_kohane@harvard.edu
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Boston, Massachusetts, Spojené státy, 02115
- Dokončeno
- Harvard T.H. Chan School of Public Health
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Minnesota
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Rochester, Minnesota, Spojené státy, 55905
- Nábor
- Mayo Clinic
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Kontakt:
- Brendan Lanpher
- E-mail: lanpher.brendan@mayo.edu
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Missouri
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St Louis, Missouri, Spojené státy, 63110
- Nábor
- Washington University in St. Louis
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Kontakt:
- Patricia Dickson
- Telefonní číslo: Not Listed
- E-mail: pdickson@wustl.edu
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New York
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New York, New York, Spojené státy, 10013
- Aktivní, ne nábor
- New York Genome Center
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North Carolina
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Durham, North Carolina, Spojené státy, 27710
- Nábor
- Duke University Health System
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Kontakt:
- Vandana Shashi, MD
- Telefonní číslo: Not Listed
- E-mail: Vandana.shashi@duke.edu
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Oregon
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Eugene, Oregon, Spojené státy, 97403
- Zatím nenabíráme
- University of Oregon
-
Kontakt:
- Monte Westerfield, PhD
- Telefonní číslo: Not Listed
- E-mail: monte@uoneuro.uoregon.edu
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Portland, Oregon, Spojené státy, 97201-3098
- Dokončeno
- Oregon Health Sciences University
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Pennsylvania
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Philadelphia, Pennsylvania, Spojené státy, 19104
- Nábor
- Children's Hospital of Philadelphia
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Kontakt:
- Kathleen Sullivan, M.D.
- Telefonní číslo: Not Listed
- E-mail: sullivank@email.chop.edu
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Philadelphia, Pennsylvania, Spojené státy, 19104-6056
- Nábor
- University of Pennsylvania
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Kontakt:
- Daniel Rader, M.D.
- E-mail: rader@pennmedicine.upenn.edu
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Tennessee
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Nashville, Tennessee, Spojené státy, 37232
- Nábor
- Vanderbilt University Medical Center
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Kontakt:
- Rizwan Hamid, M.D.
- E-mail: rizwan.hamid@vumc.org
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Texas
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Houston, Texas, Spojené státy, 77030
- Nábor
- Baylor College of Medicine
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Kontakt:
- Brendan Lee, M.D.
- Telefonní číslo: 713-798-8835
- E-mail: blee@bcm.edu
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Utah
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Salt Lake City, Utah, Spojené státy, 84112
- Nábor
- University of Utah
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Kontakt:
- Lorenzo Botto, M.D.
- Telefonní číslo: 801-581-8943
- E-mail: lorenzo.botto@hsc.utah.edu
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Washington
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Richland, Washington, Spojené státy, 99354
- Dokončeno
- Pacific Northwest National Laboratory
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Seattle, Washington, Spojené státy, 98195
- Nábor
- University of Washington
-
Kontakt:
- Gail Jarvik, M.D.
- Telefonní číslo: Not Listed
- E-mail: pair@uw.edu
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Seattle, Washington, Spojené státy, 98101
- Nábor
- Seattle Children's Hospital
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Kontakt:
- Katrina Dipple, MD, PhD
- Telefonní číslo: Not Listed
- E-mail: katrina.dipple@seattlechildrens.org
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Wisconsin
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Milwaukee, Wisconsin, Spojené státy, 53226
- Nábor
- Medical College of Wisconsin
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Kritéria účasti
Výzkumníci hledají lidi, kteří odpovídají určitému popisu, kterému se říká kritéria způsobilosti. Některé příklady těchto kritérií jsou celkový zdravotní stav osoby nebo předchozí léčba.
Kritéria způsobilosti
Věk způsobilý ke studiu
1 měsíc až 100 let (Dítě, Dospělý, Starší dospělý)
Přijímá zdravé dobrovolníky
Ano
Metoda odběru vzorků
Vzorek nepravděpodobnosti
Studijní populace
Jedinci s nediagnostikovaným onemocněním
Popis
- KRITÉRIA PRO ZAŘAZENÍ:
Mezi ideální žadatele o UDN patří jednotlivci s:
- Jeden nebo více objektivních nálezů vztahujících se k fenotypu, pro který byla podána žádost o UDN.
- Žádná diagnóza i přes vyhodnocení alespoň dvěma specialisty, kteří pacienta hodnotili na objektivní nález(y).
- Dohoda o uchovávání a sdílení informací a biomateriálů, identifikovaným způsobem mezi centry UDN a deidentifikovaným způsobem pro výzkumná místa mimo síť.
- Žadatelé, kteří nemohou souhlasit, mohou být zapsáni.
KRITÉRIA VYLOUČENÍ:
- Mezi žadatele, kteří pravděpodobně nebudou přijati, patří osoby s:
- Hlášené příznaky bez relevantních objektivních nálezů.
- Diagnóza vysvětlující objektivní nálezy.
- Diagnóza navržená při kontrole záznamu.
- Neochota sdílet data.
Studijní plán
Tato část poskytuje podrobnosti o studijním plánu, včetně toho, jak je studie navržena a co studie měří.
Jak je studie koncipována?
Detaily designu
- Observační modely: Pouze případ
- Časové perspektivy: Budoucí
Kohorty a intervence
Skupina / kohorta |
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Nediagnostikované poruchy
Pacienti se vzácnými, nediagnostikovanými poruchami.
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Co je měření studie?
Primární výstupní opatření
Měření výsledku |
Popis opatření |
Časové okno |
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Vytvořte integrovanou a spolupracující výzkumnou komunitu napříč mnoha klinickými pracovišti a mezi laboratorními a klinickými výzkumníky připravenými prozkoumat patofyziologii těchto nových a vzácných onemocnění, dopad diagnostických...
Časové okno: Den 1-5 a pokračování
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Vytvořte integrovanou a spolupracující výzkumnou komunitu napříč mnoha klinickými pracovišti a mezi laboratorními a klinickými výzkumníky připravenou zkoumat patofyziologii těchto nových a vzácných onemocnění, dopad diagnostického procesu na pacienty a rodiny, a sdílet toto porozumění za účelem nalezení vylepšených možností pro optimální management pacienta.
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Den 1-5 a pokračování
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Usnadnit výzkum etiologie nediagnostikovaných onemocnění shromažďováním a sdílením standardizovaných, vysoce kvalitních klinických a laboratorních údajů včetně genotypizace, fenotypizace a dokumentace environmentálních expozic
Časové okno: Den 1-5 a pokračování
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Usnadnit výzkum etiologie nediagnostikovaných onemocnění sběrem a sdílením standardizovaných, vysoce kvalitních klinických a laboratorních dat včetně genotypizace, fenotypizace a dokumentace environmentálních expozic.
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Den 1-5 a pokračování
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Zlepšit úroveň diagnostiky a péče o pacienty s nediagnostikovanými chorobami prostřednictvím vývoje společných a místně specifických protokolů navržených rozšířenou komunitou vyšetřovatelů
Časové okno: Den 1-5 a pokračování
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Zlepšit úroveň diagnostiky a péče o pacienty s nediagnostikovanými chorobami prostřednictvím vývoje společných a místně specifických protokolů navržených rozšířenou komunitou vyšetřovatelů.
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Den 1-5 a pokračování
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Spolupracovníci a vyšetřovatelé
Zde najdete lidi a organizace zapojené do této studie.
Vyšetřovatelé
- Vrchní vyšetřovatel: William A Gahl, M.D., National Human Genome Research Institute (NHGRI)
Publikace a užitečné odkazy
Osoba odpovědná za zadávání informací o studiu tyto publikace poskytuje dobrovolně. Mohou se týkat čehokoli, co souvisí se studiem.
Obecné publikace
- Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 Nov 29;379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10.
- Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC; Undiagnosed Diseases Network; Palmer CGS, Martinez-Agosto JA, Nelson SF. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2020 Mar;22(3):490-499. doi: 10.1038/s41436-019-0672-1. Epub 2019 Oct 14.
- Han ST, Kim AC, Garcia K, Schimmenti LA, Macnamara E, Network UD, Gahl WA, Malicdan MC, Tifft CJ. PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation. Mol Genet Metab. 2022 Mar;135(3):221-229. doi: 10.1016/j.ymgme.2022.01.103. Epub 2022 Feb 1.
- Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT; Undiagnosed Diseases Network (UDN). 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 Sep;125(1-2):118-126. doi: 10.1016/j.ymgme.2018.06.006. Epub 2018 Jun 15.
- DeBalsi KL, Newman JH, Sommerville LJ, Phillips JA 3rd, Hamid R, Cogan J, Fessel JP, Evans AM, Undiagnosed Diseases Network; Undiagnosed Diseases Network; Kennedy AD. A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male. Metabolites. 2023 Mar 8;13(3):399. doi: 10.3390/metabo13030399.
- Shashi V, Schoch K, Spillmann R, Cope H, Tan QK, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB; Undiagnosed Diseases Network. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. Genet Med. 2019 Jan;21(1):161-172. doi: 10.1038/s41436-018-0044-2. Epub 2018 Jun 15.
- Spillmann RC, Tan QK, Reuter C, Schoch K; Undiagnosed Diseases Network; Kohler J, Bonner D, Zastrow D, Alkelai A, Baugh E, Cope H, Marwaha S, Wheeler MT, Bernstein JA, Shashi V; Undiagnosed Diseases Network. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network. Genet Med. 2023 Apr;25(4):100353. doi: 10.1016/j.gim.2022.12.001. Epub 2022 Dec 5.
- Jangam SV, Briere LC, Jay KL, Andrews JC, Walker MA, Rodan LH, High FA; Undiagnosed Diseases Network; Yamamoto S, Sweetser DA, Wangler MF. A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Genetics. 2023 Aug 9;224(4):iyad110. doi: 10.1093/genetics/iyad110.
- Briere LC, Walker MA, High FA, Cooper C, Rogers CA, Callahan CJ, Ishimura R, Ichimura Y, Caruso PA, Sharma N, Brokamp E, Koziura ME, Mohammad SS, Dale RC, Riley LG; Undiagnosed Diseases Network; Phillips JA, Komatsu M, Sweetser DA. A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a005827. doi: 10.1101/mcs.a005827. Print 2021 Jun.
- Huang H, Pan J, Spielberg DR, Hanchard NA, Scott DA, Burrage LC, Dai H, Murdock D, Rosenfeld JA, Mohammad A, Huang T, Lindsey AG, Kim H, Chen J, Ramu A, Morrison SA, Dawson ZD, Hu AZ, Tycksen E, Silverman GA, Baldridge D, Wambach JA; Undiagnosed Diseases Network; Pak SC, Brody SL, Schedl T. A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C. Proc Natl Acad Sci U S A. 2022 Feb 8;119(6):e2105228119. doi: 10.1073/pnas.2105228119.
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- Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Kone-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Gain-of-function mutations in ALPK1 cause an NF-kappaB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22.
- Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Kunstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Geli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintome C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW. Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. Blood. 2022 Feb 17;139(7):1039-1051. doi: 10.1182/blood.2021011980.
- Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Reuter MS, MacDonald JR, Ko SY, Frankland PW, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV; Undiagnosed Diseases Network; Douine ED, Russell BE, Nelson SF, Zara F, Scherer SW. Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus. medRxiv [Preprint]. 2023 Dec 27:2023.12.21.23300383. doi: 10.1101/2023.12.21.23300383.
- Borja N, Bivona S, Peart LS, Johnson B, Gonzalez J, Barbouth D, Moore H, Guo S; Undiagnosed Disease Network; Bademci G, Tekin M. Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. Mol Genet Genomic Med. 2022 Apr;10(4):e1892. doi: 10.1002/mgg3.1892. Epub 2022 Mar 5.
- Halley MC, Young JL, Tang C, Mintz KT, Lucas-Griffin S, Maghiro A, Ashley EA, Tabor HK; Undiagnosed Diseases Network. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care. J Pediatr. 2023 Oct;261:113537. doi: 10.1016/j.jpeds.2023.113537. Epub 2023 Jun 2.
- Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F; Undiagnosed Diseases Network; Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 May;39(5):666-675. doi: 10.1002/humu.23400. Epub 2018 Jan 25.
- Borja N, Borjas-Mendoza P, Bivona S, Peart L, Gonzalez J, Johnson BK, Guo S, Yusupov R; Undiagnosed Diseases Network; Bademci G, Tekin M. H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome. Am J Med Genet A. 2023 Jul;191(7):1911-1916. doi: 10.1002/ajmg.a.63193. Epub 2023 Mar 29.
- Bosticardo M, Yamazaki Y, Cowan J, Giardino G, Corsino C, Scalia G, Prencipe R, Ruffner M, Hill DA, Sakovich I, Yemialyanava I, Tam JS, Padem N, Elder ME, Sleasman JW, Perez E, Niebur H, Seroogy CM, Sharapova S, Gebbia J, Kleiner GI, Peake J, Abbott JK, Gelfand EW, Crestani E, Biggs C, Butte MJ, Hartog N, Hayward A, Chen K, Heimall J, Seeborg F, Bartnikas LM, Cooper MA, Pignata C, Bhandoola A, Notarangelo LD. Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis. Am J Hum Genet. 2019 Sep 5;105(3):549-561. doi: 10.1016/j.ajhg.2019.07.014. Epub 2019 Aug 22.
- Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O; Undiagnosed Diseases Network; Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klockner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 Oct;23(10):1889-1900. doi: 10.1038/s41436-021-01216-8. Epub 2021 Jun 10.
- Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. Eur J Hum Genet. 2023 Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27.
- Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B; Undiagnosed Diseases Network members; Zieba BA, Kury S, Kruger E, Lupski JR, Bostwick BL, Orange JS. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 Jun 7;102(6):1126-1142. doi: 10.1016/j.ajhg.2018.04.010. Epub 2018 May 24.
- Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P; Undiagnosed Diseases Network; Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Hum Mutat. 2019 Aug;40(8):1115-1126. doi: 10.1002/humu.23760. Epub 2019 May 5.
- Mueller AA, Sasaki T, Keegan JW, Nguyen JP, Griffith A, Horisberger AM, Licata T, Fieg E, Cao Y, Elahee M, Marks KE, Simmons DP, Briere LC, Cobban LA, Pallais JC, High FA, Walker MA, Linnoila JJ, Sparks JA, Holers VM, Costenbader KH; Undiagnosed Diseases Network; Sweetser DA, Krier JB, Loscalzo J, Lederer JA, Rao DA. High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases. J Clin Invest. 2023 Dec 15;133(24):e169619. doi: 10.1172/JCI169619. No abstract available.
- Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Luttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study; Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Gunthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Ounap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium; Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study; Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network; Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vollo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec.
- Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005.
- Davids M, Menezes M, Guo Y, McLean SD, Hakonarson H, Collins F, Worgan L, Billington CJ Jr, Maric I, Littlejohn RO, Onyekweli T, Members Of The Udn, Adams DR, Tifft CJ, Gahl WA, Wolfe LA, Christodoulou J, Malicdan MCV. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. Mol Genet Metab. 2020 May;130(1):49-57. doi: 10.1016/j.ymgme.2020.02.005. Epub 2020 Feb 10.
- Bonder MJ, Smail C, Gloudemans MJ, Fresard L, Jakubosky D, D'Antonio M, Li X, Ferraro NM, Carcamo-Orive I, Mirauta B, Seaton DD, Cai N, Vakili D, Horta D, Zhao C, Zastrow DB, Bonner DE; HipSci Consortium; iPSCORE consortium; Undiagnosed Diseases Network; PhLiPS consortium; Wheeler MT, Kilpinen H, Knowles JW, Smith EN, Frazer KA, Montgomery SB, Stegle O. Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nat Genet. 2021 Mar;53(3):313-321. doi: 10.1038/s41588-021-00800-7. Epub 2021 Mar 4.
- Fresard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3.
- Mukherjee S, Cogan JD, Newman JH, Phillips JA 3rd, Hamid R; Undiagnosed Diseases Network; Meiler J, Capra JA. Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network. Am J Hum Genet. 2021 Oct 7;108(10):1946-1963. doi: 10.1016/j.ajhg.2021.08.010. Epub 2021 Sep 15.
- Newman JH, Shaver A, Sheehan JH, Mallal S, Stone JH, Pillai S, Bastarache L, Riebau D, Allard-Chamard H, Stone WM, Perugino C, Pilkinton M, Smith SA, McDonnell WJ, Capra JA, Meiler J, Cogan J, Xing K, Mahajan VS, Mattoo H, Hamid R, Phillips JA 3rd; Undiagnosed Disease Network. IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells. Mol Genet Genomic Med. 2019 Jun;7(6):e686. doi: 10.1002/mgg3.686. Epub 2019 Apr 16.
- Ungar RA, Goddard PC, Jensen TD, Degalez F, Smith KS, Jin CA; Undiagnosed Diseases Network; Bonner DE, Bernstein JA, Wheeler MT, Montgomery SB. Impact of genome build on RNA-seq interpretation and diagnostics. medRxiv [Preprint]. 2024 Jan 12:2024.01.11.24301165. doi: 10.1101/2024.01.11.24301165.
- Splinter K, Hull SC, Holm IA, McDonough TL, Wise AL, Ramoni RB; Members of the Undiagnosed Diseases Network. Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network. Clin Transl Sci. 2018 Jan;11(1):28-31. doi: 10.1111/cts.12512. Epub 2017 Oct 23. No abstract available.
- Harnish JM, Deal SL, Chao HT, Wangler MF, Yamamoto S. In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. J Vis Exp. 2019 Aug 20;(150):10.3791/59658. doi: 10.3791/59658.
- Kilich G, Hassey K, Behrens EM, Falk M, Vanderver A, Rader DJ, Cahill PJ, Raper A, Zhang Z, Westerfer D, Jadhav T, Conlin L, Izumi K, Rajagopalan R, Sullivan KE; UDN Consortium. Kagami Ogata syndrome: a small deletion refines critical region for imprinting. NPJ Genom Med. 2024 Jan 11;9(1):5. doi: 10.1038/s41525-023-00389-2.
- Macnamara EF, Koehler AE, D'Souza P, Estwick T, Lee P, Vezina G; Undiagnosed Diseases Network; Fauni H, Braddock SR, Torti E, Holt JM, Sharma P, Malicdan MCV, Tifft CJ. Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2. Hum Mutat. 2019 May;40(5):532-538. doi: 10.1002/humu.23722. Epub 2019 Mar 12.
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- Burdick KJ, Cogan JD, Rives LC, Robertson AK, Koziura ME, Brokamp E, Duncan L, Hannig V, Pfotenhauer J, Vanzo R, Paul MS, Bican A, Morgan T, Duis J, Newman JH, Hamid R, Phillips JA 3rd; Undiagnosed Diseases Network. Limitations of exome sequencing in detecting rare and undiagnosed diseases. Am J Med Genet A. 2020 Jun;182(6):1400-1406. doi: 10.1002/ajmg.a.61558. Epub 2020 Mar 19.
- Beck DB, Basar MA, Asmar AJ, Thompson JJ, Oda H, Uehara DT, Saida K, Pajusalu S, Talvik I, D'Souza P, Bodurtha J, Mu W, Baranano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E; Undiagnosed Diseases Network; Matsumoto N, Inazawa J, Walkiewicz M, Ounap K, Tifft CJ, Aksentijevich I, Kastner DL, Rocha PP, Werner A. Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. Sci Adv. 2021 Jan 20;7(4):eabe2116. doi: 10.1126/sciadv.abe2116. Print 2021 Jan.
- Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members; Goldstein DB, Shashi V. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14.
- Marcogliese PC, Dutta D, Ray SS, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung H, Kanca O, Wan J, Douine ED, Network UD, Pena LDM, Yamamoto S, Nelson SF, Might M, Meyer KC, Yeo NC, Bellen HJ. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Sci Adv. 2022 Jan 21;8(3):eabl5613. doi: 10.1126/sciadv.abl5613. Epub 2022 Jan 19.
- Accogli A, Lu S, Musante I, Scudieri P, Rosenfeld JA, Severino M, Baldassari S, Iacomino M, Riva A, Balagura G, Piccolo G, Minetti C, Roberto D, Xia F, Razak R, Lawrence E, Hussein M, Chang EY, Holick M, Cali E, Aliberto E, De-Sarro R, Gambardella A, Network UD, Group SS, Emrick L, McCaffery PJA, Clagett-Dame M, Marcogliese PC, Bellen HJ, Lalani SR, Zara F, Striano P, Salpietro V. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development. Cerebellum. 2023 Apr;22(2):206-222. doi: 10.1007/s12311-022-01379-3. Epub 2022 Feb 26.
- Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schoneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzman-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network; Schoser B, Rosler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bonnemann CG, Gleeson JG, Martini R, Janke C, Senderek J. Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J. 2018 Dec 3;37(23):e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12.
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- Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Ploski R, Pienkowski VM, Klosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Ades L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Macrocephaly and developmental delay caused by missense variants in RAB5C. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130.
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- Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network; Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkila S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortum F. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29.
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Termíny studijních záznamů
Tato data sledují průběh záznamů studie a předkládání souhrnných výsledků na ClinicalTrials.gov. Záznamy ze studií a hlášené výsledky jsou před zveřejněním na veřejné webové stránce přezkoumány Národní lékařskou knihovnou (NLM), aby se ujistily, že splňují specifické standardy kontroly kvality.
Hlavní termíny studia
Začátek studia (Aktuální)
16. září 2015
Primární dokončení (Odhadovaný)
31. prosince 2028
Dokončení studie (Odhadovaný)
31. prosince 2028
Termíny zápisu do studia
První předloženo
19. května 2015
První předloženo, které splnilo kritéria kontroly kvality
19. května 2015
První zveřejněno (Odhadovaný)
21. května 2015
Aktualizace studijních záznamů
Poslední zveřejněná aktualizace (Aktuální)
11. června 2026
Odeslaná poslední aktualizace, která splnila kritéria kontroly kvality
10. června 2026
Naposledy ověřeno
9. června 2026
Více informací
Termíny související s touto studií
Klíčová slova
Další relevantní podmínky MeSH
Další identifikační čísla studie
- 150130
- 15-HG-0130
Informace o lécích a zařízeních, studijní dokumenty
Studuje lékový produkt regulovaný americkým FDA
Ne
Studuje produkt zařízení regulovaný americkým úřadem FDA
Ne
Tyto informace byly beze změn načteny přímo z webu clinicaltrials.gov. Máte-li jakékoli požadavky na změnu, odstranění nebo aktualizaci podrobností studie, kontaktujte prosím register@clinicaltrials.gov. Jakmile bude změna implementována na clinicaltrials.gov, bude automaticky aktualizována i na našem webu .