Just a month to go to the “Walking in Wiltshire” get-together weekend for all those with McArdle’s. 17-19 June.
AGSD-UK can provide support to individuals and families affected by GSD.
The walking course for this year is to be held in the Pembrokeshire Coast National Park, 30 July to 6 August. Full details now available here on our website.
International Pompe Day – 15th April 2022
Researchers are looking for new and improved drugs and treatments for Glycogen Storage Disease.
More information about the newly published Rare Diseases Action Plan for England.
Sioned Williams celebrates Rare Disease Day with a short video talk about her life and career with McArdle’s, and an appeal via JustGiving.
Invitation to participate in research for UK adults living with Pompe.
1 week to go until Rare Disease Day 2022.
Trials for a gene therapy treatment for GSD1a are continuing.
New research information has been added to the GSD3 website page.
Over the Wall have residential and virtual camps available in 2022.
An update on avalglucosidase alfa.
AGSD-UK’s Zainib Hussain has been providing much needed support.
7 year old twins in Scotland have received their first Covid vaccinations.
The CureGSD1b Research Alliance is working extensively on a full understanding of the research landscape related to GSD1b at the moment.
We again will be releasing videos on every Monday of January for our Winter Season.
An update on the appraisal of treatments for Pompe by NICE.
Well done to Nigel Walker who has completed the 2021 London Marathon.
This year AGSD-UK will again be offering a series of talks and presentations
AGSD-UK are deeply saddened to learn of the recent passing of Louise Bett.
An article full of FAQ’s that will be of interest to anyone who is extremely vulnerable and is receiving homecare.
It is recognised that a small number of children and young people aged 12-17 years with specific underlying health conditions may be at risk of COVID-19 and should be offered a COVID vaccine.
Could you represent the rare experience on this new venture from The Patient Association?
Genomics England have released findings that show the public are generally supportive of using whole genome sequencing for newborn screening.
Jeff Harvey demonstrates the difficulties caused by the lack of step-free access on public transport in London.
AGSD-UK is seeking to recruit a Chief Executive Officer, a senior manager looking for a rewarding move within the charity sector. Closing date is 02 August 2021.
Florence Osborne and a team of friends have successfully completed the gruelling 3 Peaks Challenge.
Andrew Wakelin has an article about his McArdle’s walking courses in the latest National Trust magazine
Making the Unseen Seen: Rare disease and the lessons learned from the COVID-19 pandemic.
The top eleven questions that patients, families and healthcare professionals want to be addressed in liver storage disease by researchers.
101 Top Tips for Pompe disease is now available in Portuguese.
Ultragenyx Announces FDA Clearance of Investigational New Drug (IND) Application for UX053, an mRNA for the Treatment of GSD3
The first patient has been dosed in the FORTIS Phase 1/2 trial of AT845, a single-dose gene therapy for adults with late-onset Pompe disease (LOPD)
Clinical Survey Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With GSD3.
Avalglucosidase-alfa was awarded EAMS (Early Access to Medicines Status) in February 2021.
RCPCH &Us have a survey for children & young people aged 13-25, who have a rare disease & live in the UK.
We are sad to report that AGSD-UK member Aldwyn Cooper has passed away.
The John Walton Muscular Dystrophy Research Centre in Newcastle is running a new study in Pompe disease.
2 days to go until Rare Disease Day 2021.