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Evaluation of individuals with undiagnosed genetic disorders

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

Observational National Institutes of Health Clinical Center (CC) · NCT02450851

This study is trying to help people with undiagnosed genetic disorders by using expert evaluations and genetic testing to find answers about their conditions.

Quick facts

Study typeObservational
Enrollment20000 (estimated)
Ages1 Month to 100 Years
SexAll
SponsorNational Institutes of Health Clinical Center (CC) NIH
Locations33 sites (Birmingham, Alabama and 32 other locations)
Trial IDNCT02450851 on ClinicalTrials.gov

What this trial studies

This study aims to provide answers for individuals suffering from undiagnosed genetic diseases by utilizing a collaborative network of experts. Participants undergo comprehensive evaluations, including genetic testing and phenotyping, to identify potential diagnoses and understand disease mechanisms. The study also seeks to generate new knowledge about rare diseases and assess innovative approaches to diagnosis and treatment. By sharing data and biomaterials among research centers, the initiative aims to enhance the understanding of these complex conditions.

Who should consider this trial

Good fit: Ideal candidates include individuals with unexplained symptoms and objective findings who have not received a diagnosis despite extensive evaluations by specialists.

Not a fit: Patients with a known diagnosis that explains their symptoms or those without relevant objective findings are unlikely to benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to accurate diagnoses and improved management strategies for patients with previously undiagnosed genetic disorders.

How similar studies have performed: Previous initiatives like the NIH Undiagnosed Diseases Program have successfully identified rare disease diagnoses, indicating potential for success in this approach.

Eligibility criteria

Show full inclusion / exclusion criteria 
* 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.

Where this trial is running

Birmingham, Alabama and 32 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Genetic DiseaseRare DiseasesUndiagnosed DiseasesNatural History
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.