Behavior
Do New Therapies Improve Time to Diagnosis in Rare Diseases? Wesley Baisley* Wesley Baisley Betsy J. Lahue
Background
Rare disease patients often report multiple provider consultations and multi-year delays between presenting with symptoms and receiving a diagnosis (dx). The objective of this study was to explore whether newly available treatments for rare diseases contribute to earlier dx and earlier participation in research through increased general awareness of symptoms and treatments.
Methods
Three rare diseases with FDA approval 2000-2010 were selected: Gaucher’s disease (GD), Fabry’s disease (FD) and hereditary angioedema (HAE). Date of initial FDA regulatory approval served as a proxy for commercial availability (GD 2001, FD 2003, HAE 2010). A literature review was conducted via PubMed to identify studies published 10 years prior to commercial availability and up through to November 2023. Patient journey surveys, clinical trials, or registries reporting mean patient age at dx (primary outcome) were included. Scatter plots were used to assess reported age and study year. Linear regression assessed trends in patient age since commercial availability. Trends in volume of publications were compared pre- and post-FDA approval.
Results
Twenty-eight total studies were identified (HAE:15, GD:7, FB:6). Reported HAE age at dx (n=7 studies) decreased (R2=0.03), while age of dx increased in GD (n=4, R2=0.29) and was flat in FD (n=5, R2=0.01). Age of participation increased since HAE (n=12 studies, R2=0.20), GD (n=7, R2=0.08) and FD (n=5, R2=0.25) treatments became available. Results suggested 1% – 29% of variability in average age of diagnosis/participation could be explained by the increasing time since treatment availability. Most studies identified (>70%) were published within the first 10 years of availability.
Conclusion
Review of age at diagnosis and participation in studies of targeted rare diseases did not reveal that commercial availability of rare disease treatments significantly impacted age at diagnosis. Further research may be warranted to investigate this hypothesis.