Evaluation and Genetic Study of Patients With Undiagnosed Disorders in the Undiagnosed Diseases Network

What this Trial Is About

Many patients with severe and sometimes life-threatening symptoms remain undiagnosed despite extensive medical evaluations, leading to uncertainty for them and their families. The National Institutes of Health NIH established the Undiagnosed Diseases Program UDP in 2008 to provide care and answers for individuals with mysterious conditions. Building on the UDPs success, the Undiagnosed Diseases Network UDN was created to enhance diagnosis and research through collaboration among multiple medical research centers. Participants in this observational study undergo extensive clinical evaluations, including phenotyping, genetic analyses, and functional studies of potential disease-causing variants. Testing involves medically necessary procedures and research investigations such as skin biopsies, blood draws, and DNA analysis. The UDN facilitates sharing of identifiable and de-identified health and genetic information among network sites to improve understanding and diagnosis of rare and undiagnosed diseases. Throughout the study, participants provide detailed clinical data and biological samples while researchers collect and share standardized phenotypic and genotypic information. The study aims to create a collaborative research community, facilitate research into causes of undiagnosed diseases, and improve diagnosis and care. Participation includes follow-up assessments over time, with the study continuing through 2028.

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