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.
Eurordis key findings from a survey on patients’ and carers’
experience of medical care for their rare diseases.
The Pompe Support Team wanted to create a fun opportunity for children, as a show of support during lockdown.
Spark Therapeutics Announces First Participant Dosed in Phase 1/2 Study of Investigational Gene Therapy for Late-Onset Pompe Disease
Free daily vitamin D supplements are available if you’re at high risk (clinically extremely vulnerable) from coronavirus (COVID-19).
BIMDG have provided a list of frequently asked questions about the vaccination programme for COVID-19
Frank and Irene Green from Altrincham for years have decorated their home with festive lights, this year again raising money for AGSD-UK.
Over the next few months AGSD-UK is offering a series of talks and presentations which will be uploaded each Monday
Has your child been diagnosed with Juvenile Myoclonic Epilepsy?
AGSD-UK has teamed up with Vitaflo to learn more about how you live with liver GSD
Rob Wood, long time AGSD-UK supporter passes way too soon.
EURORDIS Photo Award 2021 is open for submissions
At the end of April 2021 a small team will be #HikingForHugo and taking on the National 3 Peaks Challenge in 24 hours.
Kieron Stubbings has completed the 2020 London Marathon virtually to fundraise for AGSD-UK
We are sad to report that AGSD-UK co-founder Ann Phillips has passed away shortly after contracting COVID-19 in her care home. She was 86.
Steve Wills from Indiana, USA, was diagnosed with McArdle disease (GSD5) when he was 8. He had come to think he was not like others with McArdle’s…
Avalglucosidase alfa reaches its first important regulatory milestone
Help fundraise for AGSD-UK using AmazonSmile for all Amazon purchases