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

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · May 19, 2015

Keywords

ClinConnect Summary

This clinical trial, called the Undiagnosed Diseases Network (UDN), is focused on helping individuals who have mysterious health conditions that doctors have not been able to diagnose. Many patients experience severe symptoms and go through numerous tests, often feeling lost and frustrated. The UDN aims to provide answers by using advanced medical and genetic testing to identify the causes of these undiagnosed disorders. Since its start, the program has helped many individuals by uncovering rare diseases and even discovering new conditions.

To be eligible for this trial, participants should have noticeable health issues that have not been explained despite seeing specialists. They must agree to share their health information to help researchers understand these conditions better. The study welcomes individuals of all ages and genders, including those who may not be able to provide consent themselves. Participants can expect to undergo various tests, including blood draws and skin biopsies, to help find a diagnosis. The UDN not only seeks to help individuals find answers but also hopes to improve the overall understanding of rare diseases for future patients.

Gender

ALL

Eligibility 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.