Rare diseases

News

Patients in England and Wales with familial chylomicronaemia syndrome will soon have a new treatment option, as NICE backs Sobi's Tryngolza.

News

Sweden's Egetis has won approval in the US for the first-ever treatment for people living with the ultra-rare genetic disease MCT8 deficiency.

News

A new study suggests long-read 'nanopore' sequencing could transform the diagnosis of inherited diseases and unlock new insights for drug discovery.

News

Mirum's new oral therapy for rare bone disease fibrodysplasia ossificans progressiva (FOP) looks set to challenge Regeneron's intravenous Pasatru.

News

Neuraxpharm and Minoryx' Nezglyal has become the first approved drug therapy in the EU for rare neurodegenerative disease cALD.

News

Patients in the US with Sanfilippo syndrome type A have their first FDA-approved therapy, Ultragenyx Pharma's $3.9m one-shot gene therapy Fayuvi.