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

Overview

About this study

The purpose of this study is to establish a national network added to and building upon the National Institutes of Health Undiagnosed Diseases Program (NIH UDP). 

The specific aims of the UDN are to 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, and to 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. 

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

INCLUSION CRITERIA:

Ideal applicants to the UDN include individuals with:

  • One or more objective findings pertinent to the phenotype for which a UDN application was submitted.
  • No diagnosis despite evaluation by at least two 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.
  • Applicants unable to consent can be enrolled.

EXCLUSION CRITERIA:

Applicants who are unlikely to be accepted include individuals with:

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

Note: Other protocol defined Inclusion/Exclusion Criteria may apply.

Eligibility last updated 11/10/22. Questions regarding updates should be directed to the study team contact.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Brendan Lanpher, M.D.

Open for enrollment

Contact information:

Lindsay Mulvihill CCRP

(507) 538-5353

Mulvihill.Lindsay@mayo.edu

More information

Publications

Publications are currently not available