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Klinische en genetische evaluatie van personen met niet-gediagnosticeerde aandoeningen via het netwerk voor niet-gediagnosticeerde ziekten

2 november 2026 bijgewerkt door: National Human Genome Research Institute (NHGRI)

Klinische en genetische evaluatie van patiënten met niet-gediagnosticeerde aandoeningen via het Undiagnostic Diseases Network

Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. Many individuals find themselves being passed from physician to physician, undergoing countless and often repetitive tests in the hopes of finding answers and insight about what the future may hold. This long and arduous journey to find a diagnosis does not end for many patients- the Office of Rare Diseases Research (ORDR) notes that 6% of individuals seeking their assistance have an undiagnosed disorder. In 2008, the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) was established with the goal of providing care and answers for these individuals with mysterious conditions who have long eluded diagnosis. The NIH UDP is a joint venture of the NIH ORDR, the National Human Genome Research Institute Intramural Research Program (NHGRI-IRP), and the NIH Clinical Research Center (CRC) (1-3). The goals of the NIH UDP are to: (1) provide answers for patients with undiagnosed diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application of new approaches to phenotyping and the use of genomic technologies; and (4) identify potential therapeutic targets, if possible. To date, the UDP has evaluated 3300 medical records and admitted 750 individuals with rare and undiagnosed conditions to the NIH Clinical Center. The NIH UDP has identified more than 70 rare disease diagnoses and several new conditions. The success of the NIH UDP prompted the NIH Common Fund to support the establishment of a network of medical research centers, the Undiagnosed Diseases Network (UDN), for fiscal years 2013-2020. The clinical sites will perform extensive phenotyping, genetic analyses, and functional studies of potential disease-causing variants. The testing performed on patients involves medically indicated studies intended to help reach a diagnosis, as well as research investigations that include a skin biopsy, blood draws, and DNA analysis. In addition, the UDN will further the goals of the UDP by permitting the sharing of personally identifiable phenotypic and genotypic information within the network. By sharing participant information and encouraging collaboration, the UDN hopes to improve the understanding of rare conditions and advance the diagnostic process and care for individuals with undiagnosed diseases.

Studie Overzicht

Toestand

Werving

Conditie

Gedetailleerde beschrijving

Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. Many individuals find themselves being passed from physician to physician, undergoing countless and often repetitive tests in the hopes of finding answers and insight about what the future may hold. This long and arduous journey to find a diagnosis does not end for many patients- the Office of Rare Diseases Research (ORDR) notes that 6% of individuals seeking their assistance have an undiagnosed disorder. In 2008, the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) was established with the goal of providing care and answers for these individuals with mysterious conditions who have long eluded diagnosis. The NIH UDP is a joint venture of the NIH ORDR, the National Human Genome Research Institute Intramural Research Program (NHGRI-IRP), and the NIH Clinical Research Center (CRC) (1-3). The goals of the NIH UDP are to: (1) provide answers for patients with undiagnosed diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application of new approaches to phenotyping and the use of genomic technologies; and (4) identify potential therapeutic targets, if possible.1-3 Prior to formation of the Undiagnosed Diseases Network (UDN), the UDP had evaluated 3300 medical records, admitted 750 individuals with rare and undiagnosed conditions to the NIH, and identified more than 70 rare disease diagnoses and several new conditions. The success of the NIH UDP prompted the NIH Common Fund to support the establishment of a network of medical research centers, the UDN, for fiscal years 2013-2022. The clinical sites perform extensive phenotyping, genetic analyses, and functional studies of potential disease-causing variants. The testing performed on patients involves medically indicated studies intended to help reach a diagnosis, as well as research investigations that include a skin biopsy, blood draws, and DNA analysis. In addition, the UDN is furthering the goals of the UDP by permitting the sharing of personally identifiable phenotypic and genotypic information within the network. By sharing participant information and encouraging collaboration, the UDN hopes to improve the understanding of rare conditions and advance the diagnostic process and care for individuals with undiagnosed diseases.

Studietype

Observationeel

Inschrijving (Geschat)

20000

Contacten en locaties

In dit gedeelte vindt u de contactgegevens van degenen die het onderzoek uitvoeren en informatie over waar dit onderzoek wordt uitgevoerd.

Studiecontact

Studie Locaties

  • Verenigde Staten
    • Alabama
      • Birmingham, Alabama, Verenigde Staten, 35233
        • Werving
        • University of Alabama at Birmingham
        • Contact:
      • Huntsville, Alabama, Verenigde Staten, 35806
        • Voltooid
        • HudsonAlpha Institute for Biotechnology, Inc.
    • California
      • Los Angeles, California, Verenigde Staten, 90095
        • Werving
        • University of California, Los Angeles
        • Contact:
      • Orange, California, Verenigde Staten, 92668
        • Werving
        • University of California, Irvine Medical Center
        • Contact:
      • Stanford, California, Verenigde Staten, 94305
        • Werving
        • Leland Stanford Junior University
        • Contact:
      • Stanford, California, Verenigde Staten, 94305
        • Werving
        • Stanford Hospital and Clinics
        • Contact:
      • Stanford, California, Verenigde Staten, 94020
        • Voltooid
        • Lucile Salter Packard Children's Hospital at Stanford
      • Stanford, California, Verenigde Staten, 94305-5584
        • Werving
        • Stanford University
        • Contact:
    • District of Columbia
      • Washington D.C., District of Columbia, Verenigde Staten, 20010
    • Florida
      • Miami, Florida, Verenigde Staten, 33136
        • Werving
        • University of Miami Miller School of Medicine
        • Contact:
    • Illinois
      • Chicago, Illinois, Verenigde Staten, 60611
        • Nog niet aan het werven
        • Lurie Children s Hospital
        • Contact:
    • Indiana
      • Indianapolis, Indiana, Verenigde Staten, 46202-5262
        • Werving
        • Indiana University
        • Contact:
          • Stephane Ware, M.D.
          • Telefoonnummer: 317-274-8938
          • E-mail: stware@iu.edu
    • Maryland
      • Bethesda, Maryland, Verenigde Staten, 20892
        • Werving
        • National Institutes of Health Clinical Center
        • Contact:
          • For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
          • Telefoonnummer: TTY dial 711 800-411-1222
          • E-mail: ccopr@nih.gov
    • Massachusetts
      • Boston, Massachusetts, Verenigde Staten, 02115
        • Werving
        • Brigham and Women's Hospital
        • Contact:
      • Boston, Massachusetts, Verenigde Staten, 02114
        • Werving
        • Massachusetts General Hospital
        • Contact:
      • Boston, Massachusetts, Verenigde Staten, 02115
      • Boston, Massachusetts, Verenigde Staten, 02115
        • Nog niet aan het werven
        • Harvard U Faculty of Medicine
        • Contact:
      • Boston, Massachusetts, Verenigde Staten, 02115
        • Voltooid
        • Harvard T.H. Chan School of Public Health
    • Minnesota
      • Rochester, Minnesota, Verenigde Staten, 55905
    • Missouri
      • St Louis, Missouri, Verenigde Staten, 63110
        • Werving
        • Washington University in St. Louis
        • Contact:
    • New York
      • New York, New York, Verenigde Staten, 10013
        • Actief, niet wervend
        • New York Genome Center
    • North Carolina
      • Durham, North Carolina, Verenigde Staten, 27710
        • Werving
        • Duke University Health System
        • Contact:
    • Oregon
      • Eugene, Oregon, Verenigde Staten, 97403
        • Nog niet aan het werven
        • University of Oregon
        • Contact:
      • Portland, Oregon, Verenigde Staten, 97201-3098
        • Voltooid
        • Oregon Health Sciences University
    • Pennsylvania
      • Philadelphia, Pennsylvania, Verenigde Staten, 19104
        • Werving
        • Children's Hospital of Philadelphia
        • Contact:
      • Philadelphia, Pennsylvania, Verenigde Staten, 19104-6056
    • Tennessee
      • Nashville, Tennessee, Verenigde Staten, 37232
    • Texas
      • Houston, Texas, Verenigde Staten, 77030
        • Werving
        • Baylor College of Medicine
        • Contact:
          • Brendan Lee, M.D.
          • Telefoonnummer: 713-798-8835
          • E-mail: blee@bcm.edu
    • Utah
      • Salt Lake City, Utah, Verenigde Staten, 84112
    • Washington
      • Richland, Washington, Verenigde Staten, 99354
        • Voltooid
        • Pacific Northwest National Laboratory
      • Seattle, Washington, Verenigde Staten, 98195
        • Werving
        • University of Washington
        • Contact:
          • Gail Jarvik, M.D.
          • Telefoonnummer: Not Listed
          • E-mail: pair@uw.edu
      • Seattle, Washington, Verenigde Staten, 98101
    • Wisconsin
      • Milwaukee, Wisconsin, Verenigde Staten, 53226
        • Werving
        • Medical College of Wisconsin

Deelname Criteria

Onderzoekers zoeken naar mensen die aan een bepaalde beschrijving voldoen, de zogenaamde geschiktheidscriteria. Enkele voorbeelden van deze criteria zijn iemands algemene gezondheidstoestand of eerdere behandelingen.

Geschiktheidscriteria

Leeftijden die in aanmerking komen voor studie

1 maand tot 100 jaar (Kind, Volwassen, Oudere volwassene)

Accepteert gezonde vrijwilligers

Ja

Geslachten die in aanmerking komen voor studie

Allemaal

Bemonsteringsmethode

Niet-waarschijnlijkheidssteekproef

Studie Bevolking

Individuals with undiagnosed conditions

Beschrijving

  • INCLUSION CRITERIA:

Ideal participants for tier 2-4 evaluations include individuals with:

  • One or more objective findings pertinent to the phenotype for which a case was submitted.
  • No diagnosis despite evaluation by specialists who assessed the patient for the objective finding(s).
  • Agreement for the storage and sharing of information and biomaterials, in an identified fashion amongst the UDN centers, and in a de-identified fashion to research sites beyond the network.

Participants unable to consent can be enrolled.

EXCLUSION CRITERIA:

Individuals who are unlikely to be assigned to tier 2-4 evaluations include those with:

  • Reported symptoms with no relevant objective findings.
  • A diagnosis explaining objective findings.
  • A diagnosis suggested on record review.
  • Unwillingness to share data.

Studie plan

Dit gedeelte bevat details van het studieplan, inclusief hoe de studie is opgezet en wat de studie meet.

Hoe is de studie opgezet?

Ontwerpdetails

  • Observatiemodellen: CASE_ONLY
  • Tijdsperspectieven: PROSPECTIVE

Cohorten en interventies

Groep / Cohort
Undiagnosed disorders

Patients with rare, undiagnosed disorders.

Wat meet het onderzoek?

Primaire uitkomstmaten

Uitkomstmaat
Maatregel Beschrijving
Tijdsspanne
Create an integrated and collaborative research community across multiple clinical sites and between laboratory and clinical investigators prepared to investigate the pathophysiology of these new and rare diseases, the impact of the diagnostic p...
Tijdsspanne: Day 1-5 and followup

Create an integrated and collaborative research community across multiple clinical sites and between laboratory and clinical investigators prepared to investigate the pathophysiology of these new and rare diseases, the impact of the diagnostic process on patients and families, and share this understanding to identify improved options for optimal patient management.
Day 1-5 and followup
Facilitate research into the etiology of undiagnosed diseases, by collecting and sharing standardized, high-quality clinical and laboratory data including genotyping, phenotyping, and documentation of environmental exposures
Tijdsspanne: Day 1-5 and followup

Facilitate research into the etiology of undiagnosed diseases, by collecting and sharing standardized, high-quality clinical and laboratory data including genotyping, phenotyping, and documentation of environmental exposures.
Day 1-5 and followup
Improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common and site-specific protocols designed by an enlarged community of investigators
Tijdsspanne: Day 1-5 and followup

Improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common and site-specific protocols designed by an enlarged community of investigators.
Day 1-5 and followup

Medewerkers en onderzoekers

Hier vindt u mensen en organisaties die betrokken zijn bij dit onderzoek.

Sponsor

National Human Genome Research Institute (NHGRI)

Onderzoekers

  • Hoofdonderzoeker: William A Gahl, M.D., National Human Genome Research Institute (NHGRI)

Publicaties en nuttige links

De persoon die verantwoordelijk is voor het invoeren van informatie over het onderzoek stelt deze publicaties vrijwillig ter beschikking. Dit kan gaan over alles wat met het onderzoek te maken heeft.

Algemene publicaties

Nuttige links

Studie record data

Deze datums volgen de voortgang van het onderzoeksdossier en de samenvatting van de ingediende resultaten bij ClinicalTrials.gov. Studieverslagen en gerapporteerde resultaten worden beoordeeld door de National Library of Medicine (NLM) om er zeker van te zijn dat ze voldoen aan specifieke kwaliteitscontrolenormen voordat ze op de openbare website worden geplaatst.

Bestudeer belangrijke data

Studie start (Werkelijk)

16 september 2015

Primaire voltooiing (Geschat)

16 september 2099

Studie voltooiing (Geschat)

31 december 2099

Studieregistratiedata

Eerst ingediend

19 mei 2015

Eerst ingediend dat voldeed aan de QC-criteria

19 mei 2015

Eerst geplaatst (Geschat)

21 mei 2015

Updates van studierecords

Laatste update geplaatst (Werkelijk)

3 november 2026

Laatste update ingediend die voldeed aan QC-criteria

2 november 2026

Laatst geverifieerd

28 oktober 2026

Meer informatie

Termen gerelateerd aan deze studie

Trefwoorden

Aanvullende relevante MeSH-voorwaarden

Andere studie-ID-nummers

  • 150130
  • 15-HG-0130

Informatie over medicijnen en apparaten, studiedocumenten

Bestudeert een door de Amerikaanse FDA gereguleerd geneesmiddel

Nee

Bestudeert een door de Amerikaanse FDA gereguleerd apparaatproduct

Nee

Deze informatie is zonder wijzigingen rechtstreeks van de website clinicaltrials.gov gehaald. Als u verzoeken heeft om uw onderzoeksgegevens te wijzigen, te verwijderen of bij te werken, neem dan contact op met register@clinicaltrials.gov. Zodra er een wijziging wordt doorgevoerd op clinicaltrials.gov, wordt deze ook automatisch bijgewerkt op onze website .

Abonneren