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Undiagnosed Diseases Network: Clinical and Genetic Evaluation

This study, called the Undiagnosed Diseases Network, aims to help individuals who have mysterious health conditions that doctors haven't been able to diagnose. Many people with severe symptoms go from doctor to doctor without answers. This network brings together experts to investigate these conditions, share information, and ultimately improve diagnosis and care. You might be eligible if you have objective findings (things doctors can observe or measure) related to your condition, and you haven't received a diagnosis despite seeing specialists. The goal is to create a collaborative research community and facilitate research into the causes of these undiagnosed diseases.

Study design
This is an observational study with a planned enrollment of 20,000 participants. It is not a drug trial, but rather a program to evaluate and research undiagnosed conditions.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed from Day 1-5 and through subsequent follow-up periods.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT02450851

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

Recruiting
Not specifiedAges 1+Observational
National Human Genome Research Institute (NHGRI)
~20,000 participants
Updated 2026-08-28 on ClinicalTrials.gov

At a glance

Recruiting sites
24 of 33 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
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...
Measured over Day 1-5 and followup
+2 more outcomes measured

Conditions

Genetic Disease

Explore related trials

Genetic DisorderRare DisorderUndiagnosed Diseases

Where it's being run

33 sites across 19 states
California6
Massachusetts5
Washington3
Alabama2
Oregon2
Pennsylvania2
District of Columbia1
Florida1

Study leadership

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

Who to contact

Paul Mazur
[email protected]
(844) 746-4836
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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.

Exclusion

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

What this trial measures

  • 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...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.

  • 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 exposuresDay 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.

  • 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 investigatorsDay 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.