Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study.

WHY IT MATTERS

If you have an inherited metabolic disease in Switzerland or Europe, this study shows real-world timelines for how long it typically takes to get orphan drug approval and reimbursement—information that can help you advocate for faster access with your doctor and insurance company.

Researchers in Switzerland studied how many adults with inherited metabolic diseases (rare conditions where the body cannot break down certain substances properly) were able to get orphan drugs (special medicines made for rare diseases). They looked at records from 2017 to 2022 to understand which patients received these medicines, how long it took to get them approved and paid for, and what rules made it easier or harder to access them.

Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study. Abstract: Orphan drugs (ODs) are increasingly used to treat rare diseases, including inherited metabolic diseases (IMDs), but real-world access remains insufficiently characterized. This study aimed to evaluate access to ODs in adults with IMDs treated at a Swiss reference center and to analyze the associated regulatory and reimbursement frameworks. In this retrospective, single-center study conducted between 2017 and 2022, we included all adult patients with a confirmed biochemical and/or genetic diagnosis of an IMD who received an OD. The primary outcome was the proportion of patients receiving OD therapy. Secondary outcomes included the types of ODs used, reimbursement procedures, time from treatment indication to treatment initiation, timelines in Swiss marketing authorization (MA) and reimburse Authors: Antoni et al. Journal: Orphanet journal of rare diseases MeSH: Humans, Adult, Retrospective Studies, Switzerland, Orphan Drug Production, Female, Male, Metabolic Diseases, Middle Aged, Rare Diseases