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Klinisk og genetisk evaluering av individer med udiagnostiserte lidelser gjennom nettverket for udiagnostiserte sykdommer

2. november 2026 oppdatert av: National Human Genome Research Institute (NHGRI)

Klinisk og genetisk evaluering av pasienter med udiagnostiserte lidelser gjennom nettverket for udiagnostiserte sykdommer

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.

Studieoversikt

Status

Rekruttering

Forhold

Detaljert beskrivelse

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

Observasjonsmessig

Registrering (Antatt)

20000

Kontakter og plasseringer

Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.

Studiekontakt

Studiesteder

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

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

1 måned til 100 år (Barn, Voksen, Eldre voksen)

Tar imot friske frivillige

Ja

Kjønn som er kvalifisert for studier

Alle

Prøvetakingsmetode

Ikke-sannsynlighetsprøve

Studiepopulasjon

Individuals with undiagnosed conditions

Beskrivelse

  • 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.

Studieplan

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

  • Observasjonsmodeller: CASE_ONLY
  • Tidsperspektiver: PROSPECTIVE

Kohorter og intervensjoner

Gruppe / Kohort
Undiagnosed disorders

Patients with rare, undiagnosed disorders.

Hva måler studien?

Primære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
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...
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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

Samarbeidspartnere og etterforskere

Det er her du vil finne personer og organisasjoner som er involvert i denne studien.

Sponsor

National Human Genome Research Institute (NHGRI)

Etterforskere

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

Publikasjoner og nyttige lenker

Den som er ansvarlig for å legge inn informasjon om studien leverer frivillig disse publikasjonene. Disse kan handle om alt relatert til studiet.

Generelle publikasjoner

Hjelpsomme linker

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Faktiske)

16. september 2015

Primær fullføring (Antatt)

16. september 2099

Studiet fullført (Antatt)

31. desember 2099

Datoer for studieregistrering

Først innsendt

19. mai 2015

Først innsendt som oppfylte QC-kriteriene

19. mai 2015

Først lagt ut (Antatt)

21. mai 2015

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)

3. november 2026

Siste oppdatering sendt inn som oppfylte QC-kriteriene

2. november 2026

Sist bekreftet

28. oktober 2026

Mer informasjon

Begreper knyttet til denne studien

Nøkkelord

Ytterligere relevante MeSH-vilkår

Andre studie-ID-numre

  • 150130
  • 15-HG-0130

Legemiddel- og utstyrsinformasjon, studiedokumenter

Studerer et amerikansk FDA-regulert medikamentprodukt

Nei

Studerer et amerikansk FDA-regulert enhetsprodukt

Nei

Denne informasjonen ble hentet direkte fra nettstedet clinicaltrials.gov uten noen endringer. Hvis du har noen forespørsler om å endre, fjerne eller oppdatere studiedetaljene dine, vennligst kontakt register@clinicaltrials.gov. Så snart en endring er implementert på clinicaltrials.gov, vil denne også bli oppdatert automatisk på nettstedet vårt. .

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