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2 articles from the last 90 days matching "Switzerland"

ResearchPUBMED3 days ago

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

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.

WHY IT MATTERSIf 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.
ℹ Good to know
ResearchPUBMEDMar 26

Diagnostic odyssey of patients with the rare immunodeficiency activated PI3 kinase delta syndrome (APDS): case study from expert and patient surveys.

This study looked at how long it takes to diagnose APDS, a very rare immune system disorder that affects only 1-2 people per million. Researchers interviewed patients and doctors in Austria, Germany, and Switzerland and found that people typically wait several years before getting a correct diagnosis because the disease is so uncommon and looks different in different people.

WHY IT MATTERSPatients with APDS face years of diagnostic delay due to the disease's rarity and variable symptoms — understanding these barriers could help doctors recognize APDS faster and reduce the time families spend seeking answers.
💬 Ask your doctorActivated PI3 kinase delta syndrome (APDS)Primary immunodeficiency

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