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Valutazione clinica e genetica di individui con disturbi non diagnosticati attraverso la rete delle malattie non diagnosticate

2 novembre 2026 aggiornato da: National Human Genome Research Institute (NHGRI)

Valutazione clinica e genetica dei pazienti con disturbi non diagnosticati attraverso la rete delle malattie non diagnosticate

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.

Panoramica dello studio

Stato

Reclutamento

Condizioni

Descrizione dettagliata

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.

Tipo di studio

Osservativo

Iscrizione (Stimato)

20000

Contatti e Sedi

Questa sezione fornisce i recapiti di coloro che conducono lo studio e informazioni su dove viene condotto lo studio.

Contatto studio

Luoghi di studio

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

Criteri di partecipazione

I ricercatori cercano persone che corrispondano a una certa descrizione, chiamata criteri di ammissibilità. Alcuni esempi di questi criteri sono le condizioni generali di salute di una persona o trattamenti precedenti.

Criteri di ammissibilità

Età idonea allo studio

Da 1 mese a 100 anni (Bambino, Adulto, Adulto più anziano)

Accetta volontari sani

Sì

Sessi ammissibili allo studio

Tutto

Metodo di campionamento

Campione non probabilistico

Popolazione di studio

Individuals with undiagnosed conditions

Descrizione

  • 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.

Piano di studio

Questa sezione fornisce i dettagli del piano di studio, compreso il modo in cui lo studio è progettato e ciò che lo studio sta misurando.

Come è strutturato lo studio?

Dettagli di progettazione

  • Modelli osservazionali: CASE_ONLY
  • Prospettive temporali: PROSPECTIVE

Coorti e interventi

Gruppo / Coorte
Undiagnosed disorders

Patients with rare, undiagnosed disorders.

Cosa sta misurando lo studio?

Misure di risultato primarie

Misura del risultato
Misura Descrizione
Lasso di tempo
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...
Lasso di tempo: 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
Lasso di tempo: 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
Lasso di tempo: 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

Collaboratori e investigatori

Qui è dove troverai le persone e le organizzazioni coinvolte in questo studio.

Sponsor

National Human Genome Research Institute (NHGRI)

Investigatori

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

Pubblicazioni e link utili

La persona responsabile dell'inserimento delle informazioni sullo studio fornisce volontariamente queste pubblicazioni. Questi possono riguardare qualsiasi cosa relativa allo studio.

Pubblicazioni generali

Collegamenti utili

Studiare le date dei record

Queste date tengono traccia dell'avanzamento della registrazione dello studio e dell'invio dei risultati di sintesi a ClinicalTrials.gov. I record degli studi e i risultati riportati vengono esaminati dalla National Library of Medicine (NLM) per assicurarsi che soddisfino specifici standard di controllo della qualità prima di essere pubblicati sul sito Web pubblico.

Studia le date principali

Inizio studio (Effettivo)

16 settembre 2015

Completamento primario (Stimato)

16 settembre 2099

Completamento dello studio (Stimato)

31 dicembre 2099

Date di iscrizione allo studio

Primo inviato

19 maggio 2015

Primo inviato che soddisfa i criteri di controllo qualità

19 maggio 2015

Primo Inserito (Stimato)

21 maggio 2015

Aggiornamenti dei record di studio

Ultimo aggiornamento pubblicato (Effettivo)

3 novembre 2026

Ultimo aggiornamento inviato che soddisfa i criteri QC

2 novembre 2026

Ultimo verificato

28 ottobre 2026

Maggiori informazioni

Termini relativi a questo studio

Parole chiave

Termini MeSH pertinenti aggiuntivi

Altri numeri di identificazione dello studio

  • 150130
  • 15-HG-0130

Informazioni su farmaci e dispositivi, documenti di studio

Studia un prodotto farmaceutico regolamentato dalla FDA degli Stati Uniti

No

Studia un dispositivo regolamentato dalla FDA degli Stati Uniti

No

Queste informazioni sono state recuperate direttamente dal sito web clinicaltrials.gov senza alcuna modifica. In caso di richieste di modifica, rimozione o aggiornamento dei dettagli dello studio, contattare register@clinicaltrials.gov. Non appena verrà implementata una modifica su clinicaltrials.gov, questa verrà aggiornata automaticamente anche sul nostro sito web .

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