Insights from multidisciplinary rare disease visits: Findings from wrap-up documents and participant surveys in a national diagnostic study.

ABSTRACT:

Background

This study is part of the Undiagnosed Diseases Network (UDN). The UDN is designed to improve diagnostic evaluation for patients who have defied diagnosis as well as to identify the underlying mechanism of disease. We explored recommendations made as part of the UDN evaluation, the number and type of specialists involved in that evaluation, and factors related to changes in care following the UDN visit. We used two datasets: visit wrap-up documents and post-evaluation surveys. We created distinct statistical models for each dataset to further understand the patient experience after a multidisciplinary rare disease visit.

Results

Across datasets, the most common primary symptom category was neurology. The mean number of evaluations per participant was 3.8 with the m

SUBMITTER: Rosenfeld LE 

PROVIDER: S-EPMC12721797 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature