Patient journey to Fabry disease diagnosis in the United States: an observational retrospective analysis of two United States claims databases
This study assessed the journey of patients with FD to diagnosis based on two large US claims databases, Optum CDM and Komodo RD. The results highlighted a significant burden of cardiovascular, neurologic, and gastrointestinal symptoms and comorbidities, along with associated medication use, in the two years prior to diagnosis. Identifying these comorbidity profiles in patients with FD could shorten time to diagnosis and provide improved disease management.
Authors
- И. А. Максимова (ORCID: https://orcid.org/0000-0003-3030-6417)
- Gandarvaka Miles
- Natalia Petruski‐Ivleva
- Michael B. Jordan (ORCID: https://orcid.org/0000-0003-4207-3542)
- Claudia Leiras
- Ana Maria Viegas-Crespo (ORCID: https://orcid.org/0000-0001-9994-6450)
- Tiange Yu (ORCID: https://orcid.org/0009-0009-8854-7142)
- Alexandra Dumitriu (ORCID: https://orcid.org/0000-0002-4467-4803)
- Queeny Ip
- Roberto Araujo (ORCID: https://orcid.org/0000-0002-2625-5365)
Institutions
- Sanofi (France) (FR)
- Sanofi (United States) (US)
- Emodo (United States) (US)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-11-27
- DOI
- https://doi.org/10.1186/s13023-025-04041-3
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Sanofi