Clinical Survey Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With GSD Type 3.
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
Julie Garfield has been making bag tags for Pompe children to go back to school.
AGSD-UK working with NICE towards approval for new treatment for Pompe disease.
The latest edition of our magazine Glisten is here, dated August 2020. Packed with news, reports, research and fundraising ideas.
A survey looking at the Covid-19 impact on wellbeing in families of children with rare neurodevelopmental and genetic disorders study
Pompe Support Team’s Medical Overview leaflet is now being used in Australia.
Audentes is now enrolling patients with late-onset Pompe disease in the Phase 1/2 clinical trial.
AGSD-UK are offering a free online mindfulness course to those working with or affected by GSD.
This webinar will explore educating physicians in rare diseases. It is open to all.
Metabolic Disorders Awareness Week runs from 06.07.20 – 12.07.20. see how you can be part of it.
Mental health considerations during the COVID-19 pandemic and how physical activity can help.
Maggie Lilburn dies after long illness
How to wear a face mask correctly
MetabERN has extended its survey deadline to June 21st 2020
For 2020 NORD plans to hold its annual patient and family forum as a virtual event. It will be on 18 and 19 July
AGSD-UK has appointed Julie Jackson to a temporary post to address a large increase in requests for help with state benefits.
Dr. Weinstein, long-time champion of improved diagnosis and treatment for hepatic GSDs due to move to Passage Bio as VP.
Survey on rare disease patients’ experience of COVID-19 will enable EURORDIS to measure the effect on lives and inform decision-makers.