NCT02450851

Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

Recruiting now Last updated 6 April 2026

What this trial tests

trial in Genetic Disease in 20,000 participants. Currently enrolling.

Timeline

16 September 2015

Primary endpoint
31 December 2028

31 December 2028

Quick facts

Lead sponsor	National Human Genome Research Institute (NHGRI)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	20,000
Start date	16 September 2015
Primary completion	31 December 2028
Estimated completion	31 December 2028
Sites	33 locations across United States

Conditions studied

• Genetic Disease — all drugs for Genetic Disease →

Sponsor

National Human Genome Research Institute (NHGRI)

Who can join

Adults 1 Month to 100, any sex, with Genetic Disease. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.
   Ontario Health (Quality) . · · 2020 · cited 43× · PMID 32194879
2. Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.
   Halley MC, Young JL, Fernandez L, Kohler JN, et al · · 2022 · cited 40× · PMID 34981646 · DOI 10.1002/ajmg.a.62619
3. Characteristics of undiagnosed diseases network applicants: implications for referring providers.
   Walley NM, Pena LDM, Hooper SR, Cope H, et al · · 2018 · cited 24× · PMID 30134969 · DOI 10.1186/s12913-018-3458-2
4. "Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey.
   Deuitch NT, Beckman E, Halley MC, Young JL, et al · · 2021 · cited 23× · PMID 34096130 · DOI 10.1002/jgc4.1438
5. Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease.
   Young JL, Halley MC, Anguiano B, Fernandez L, et al · · 2022 · cited 20× · PMID 36072659 · DOI 10.3389/fgene.2022.949422
6. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
   Davids M, Menezes M, Guo Y, McLean SD, et al · · 2020 · cited 15× · PMID 32165008 · DOI 10.1016/j.ymgme.2020.02.005
7. The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
   Daich Varela M, Jani P, Zein WM, D'Souza P, et al · · 2020 · cited 14× · PMID 32866347 · DOI 10.1002/ajmg.c.31823
8. A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.
   Kyle JE, Stratton KG, Zink EM, Kim YM, et al · · 2021 · cited 13× · PMID 33883556 · DOI 10.1038/s41597-021-00894-y