Tuesday, 12th December 2023 | News, Pompe disease, Research
Cipaglucosidase alfa (Pombiliti®) is accepted for use within NHS Scotland The Scottish Medicines Consortium has completed its assessment of cipaglucosidase alfa and has advised that this offers an additional treatment choice as a long-term enzyme replacement...
Thursday, 16th November 2023 | News, Research, Von Gierke disease
Ultragenyx have provided the following community update on the development of DTX401, their investigational gene therapy for the potential treatment of GSDIa. GSDIa Community...
Wednesday, 4th October 2023 | News, Research
GSDs on list of conditions for inclusion in Newborn Genomes Programme research study. Genomics England has published an initial list of conditions that will be screened for as part of their forthcoming Generation Study, which includes some GSDs. The study will...
Tuesday, 15th August 2023 | News, Pompe disease, Research
The National Institute for Health and Care Excellence has today published final guidance recommending cipaglucosidase alfa (CIPA) plus miglustat, within its marketing authorisation, as an option for treating late-onset Pompe disease in adults.
Tuesday, 1st November 2022 | News, Research, Support, Von Gierke disease
GSD1a Patient Research Please find below a link to an invitation for UK families affected by GSD1a to take part research by Liberating Research to improve understanding of the impact of the condition. Who can participate?People living with GSD1a and their partners /...
Tuesday, 6th September 2022 | News, Research, Support
Clinical and Social Care Services Please take the chance to respond to an important survey to improve understanding about the quality of care you experience from your specialist hospital clinic, homecare, and other social care services. The survey is designed by the...