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Research Study – Exercise and Pompe Disease.
Invitation to participate in research for UK adults living with Pompe.
Rare Disease Day 2022.
1 week to go until Rare Disease Day 2022.
Gene Therapy Trial for GSD1a Progress.
Trials for a gene therapy treatment for GSD1a are continuing.
GSD3 Website Updates.
New research information has been added to the GSD3 website page.
Over The Wall Camp Opportunities.
Over the Wall have residential and virtual camps available in 2022.
Extension of Early Access to Medicines Scheme for trial Pompe drug.
An update on avalglucosidase alfa.
Success for our Benefits Advisor.
AGSD-UK’s Zainib Hussain has been providing much needed support.
GSD in the National News.
7 year old twins in Scotland have received their first Covid vaccinations.
CureGSD1b Research Ready Data Collection Plan.
The CureGSD1b Research Alliance is working extensively on a full understanding of the research landscape related to GSD1b at the moment.
Winter Season 2022
We again will be releasing videos on every Monday of January for our Winter Season.
Progress on NICE assessment of new treatments.
An update on the appraisal of treatments for Pompe by NICE.
Nigel Walker runs London Marathon to support AGSD-UK.
Well done to Nigel Walker who has completed the 2021 London Marathon.
Winter Season of GSD talks and events coming soon.
This year AGSD-UK will again be offering a series of talks and presentations
Louise Bett.
AGSD-UK are deeply saddened to learn of the recent passing of Louise Bett.
Homecare and Coronavirus.
An article full of FAQ’s that will be of interest to anyone who is extremely vulnerable and is receiving homecare.
COVID-19 vaccination for children and young people aged 12-17 years.
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.
Lived experience advisory panel.
Could you represent the rare experience on this new venture from The Patient Association?
Whole Genome Sequencing for newborn screening.
Genomics England have released findings that show the public are generally supportive of using whole genome sequencing for newborn screening.
Step-Free Access in London – BBC Politics Show
Jeff Harvey demonstrates the difficulties caused by the lack of step-free access on public transport in London.
We are recruiting a CEO
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.
3 Peak Challenge successfully completed!
Florence Osborne and a team of friends have successfully completed the gruelling 3 Peaks Challenge.
AGSD-UK’s Andrew Wakelin featured in National Trust magazine.
Andrew Wakelin has an article about his McArdle’s walking courses in the latest National Trust magazine
Rare disease and the lessons learned from the COVID-19 pandemic.
Making the Unseen Seen: Rare disease and the lessons learned from the COVID-19 pandemic.
Liver Glycogen Storage Disease Top 11 Questions.
The top eleven questions that patients, families and healthcare professionals want to be addressed in liver storage disease by researchers.
Pompe book is going global!
101 Top Tips for Pompe disease is now available in Portuguese.
Ultragenyx Announces FDA Clearance of Investigational New Drug (IND) Application for UX053.
Ultragenyx Announces FDA Clearance of Investigational New Drug (IND) Application for UX053, an mRNA for the Treatment of GSD3
First Pompe patient dosed in FORTIS Trial of AT845.
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 for GSD3.
Clinical Survey Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With GSD3.
Update on Pompe Disease Treatment.
Avalglucosidase-alfa was awarded EAMS (Early Access to Medicines Status) in February 2021.
RCPCH &Us Rare Disease Survey.
RCPCH &Us have a survey for children & young people aged 13-25, who have a rare disease & live in the UK.
Aldwyn Cooper 1949 – 2021.
We are sad to report that AGSD-UK member Aldwyn Cooper has passed away.
Trial: Seroprevalence study in Pompe disease.
The John Walton Muscular Dystrophy Research Centre in Newcastle is running a new study in Pompe disease.
Rare Disease Day 2021
2 days to go until Rare Disease Day 2021.
Eurordis H-Care Survey of rare diseases results.
Eurordis key findings from a survey on patients’ and carers’
experience of medical care for their rare diseases.
Winner announced of the PST Avatar Competition.
The Pompe Support Team wanted to create a fun opportunity for children, as a show of support during lockdown.
Spark Therapeutics doses the first participant in Gene Therapy trial.
Spark Therapeutics Announces First Participant Dosed in Phase 1/2 Study of Investigational Gene Therapy for Late-Onset Pompe Disease
Vitamin D supplements for clinically extremely vulnerable.
Free daily vitamin D supplements are available if you’re at high risk (clinically extremely vulnerable) from coronavirus (COVID-19).
COVID-19 Vaccine FAQ’s.
BIMDG have provided a list of frequently asked questions about the vaccination programme for COVID-19
Christmas lights – by Irene and Frank Green.
Frank and Irene Green from Altrincham for years have decorated their home with festive lights, this year again raising money for AGSD-UK.
Winter Season of GSD talks and events is here.
Over the next few months AGSD-UK is offering a series of talks and presentations which will be uploaded each Monday