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Rare Disease Day 2024.

Rare Disease Day 2024.

Today is Rare Disease Day! This rarest of days, 29th February is a great opportunity to raise awareness about rare conditions. Visit https://www.rarediseaseday.org/ to find out more about how to get involved in this international campaign. Thanks go to all our...

Virtual Festive Event.

Virtual Festive Event.

AGSD-UK is holding a Virtual Festive Event on the 9th of December at 1.00pm. Come along and make sure you wear a Festive hat, as there will be a prize for the best headgear. We will have a Quiz and time for everyone to catch up. For more information, please contact...

Update on the DTX401 programme for GSD1a.

Update on the DTX401 programme for GSD1a.

Ultragenyx have provided the following community update on the development of DTX401, their investigational gene therapy for the potential treatment of GSDIa.  GSDIa Community Update

Newborn Genomes Programme.

Newborn Genomes Programme.

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...

NICE recommends cipaglucosidase alfa plus miglustat.

NICE recommends cipaglucosidase alfa plus miglustat.

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.

New Continuum of Care Model for McArdle’s.

New Continuum of Care Model for McArdle’s.

IamGSD has led an international team of clinicians to develop and publish a continuum of care model to help physicians and patients to achieve the patient’s optimal state.

Seminar for people affected by neuromuscular diseases.

Seminar for people affected by neuromuscular diseases.

Seminar Thursday 18th May - 5PM UK The research team at Newcastle University's John Walton centre are keen for people affected by neuromuscular conditions to join a seminar on 18th May: ‘We are glad to announce that we will be delivering a seminar on the 18 May at...

International Pompe Day 15 April 2023.

International Pompe Day 15 April 2023.

The IPA focused this year’s International Pompe Day on the importance of movement, sharing stories from the community under the slogan “Every Move Counts”.

London Marathon 2023.

London Marathon 2023.

London Marathon 2023 AGSD-UK has 4 brilliant and brave supporters running the London Marathon on 23rd April. To read their motivation for running please have a look at the individual stories on their fundraising pages. Any donations would be very much appreciated....

Rare Disease Day 2023.

Rare Disease Day 2023.

Rare Disease Day is taking place on 28th February 2023   This Rare Disease Day is an opportunity to highlight the importance of effective, coordinated care for people living with rare conditions. Visit the Rare Disease Day 2023 website to find out more! Rare...

Help Us Raise Awareness.

Help Us Raise Awareness.

Help us raise awareness and share experiences   With rare disease day approaching at the end of February can you help us raise awareness of GSD and what it's like to live with the condition? Just send a short video clip of the way your condition affects a typical...

Liberating Research GSD1a Study.

Liberating Research GSD1a Study.

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 /...

McArdle’s walking courses 2023.

McArdle’s walking courses 2023.

The dates for the McArdle’s walking courses for 2023 have been announced. Courses will be in Snowdonia, based in the village of Tremadog.

LSD Collaborative Community Survey 2022.

LSD Collaborative Community Survey 2022.

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...

NICE recommends Avalglucosidase alfa as a treatment option for Pompe.

NICE recommends Avalglucosidase alfa as a treatment option for Pompe.

24th August 2022 The National Institute for Health and Care Excellence today published its recommendation of Avalglucosidase alfa (AVAL) as an option for treating Pompe in babies, children, young people and adults, where AVAL is provided according to the commercial...

Wales Rare Diseases Action Plan.

Wales Rare Diseases Action Plan.

Action Plan The Welsh Government have now published their Rare Diseases Action Plan in support of the 2021 UK Rare Disease Framework. The Wales Rare Diseases Action Plan 2022-2026 is available at the following links:  English version Welsh version    

What is a Clinical Trial?

What is a Clinical Trial?

Researchers are looking for new and improved drugs and treatments for Glycogen Storage Disease.

Sioned’s Rare Disease Day 2022.

Sioned’s Rare Disease Day 2022.

Sioned Williams celebrates Rare Disease Day with a short video talk about her life and career with McArdle’s, and an appeal via JustGiving.