Ultra rare conditions such as Glycogen Storage Disease cannot hope to ever have as much research carried out as diseases that are 1,000 times more common, such as diabetes, cancer or heart disease.
However, we are fortunate to have the interest of a number of researchers and pharmaceutical companies. There is a great deal of work going on around the world.
With gene therapy human trials starting in GSDs, this is an exciting time with the prospect of real advances in the coming years.
Important area of our work
Whilst information and support are front-line areas for our work, it is of course research that enables us to better understand the various GSDs and leads to improved management and treatments. One day it will lead to cures.
We can assist by contributing the patient perspective to study designs, by helping to recruit trial participants, and occasionally by providing pump-priming funding.
Exercise assessment to evaluate changes.
Areas for enquiry
Diet, exercise, medication and enzyme replacement are all areas already playing a part in helping patients. Those areas and gene therapy are very worthy of further research.
If you are interested in the possibility of joining a trial keep in touch with your specialist centre, but also with us as we will try to publish details on our web site and in our email circulars. You can also keep an eye on the clinical trials registries, see panel below.
Gene therapy developments
Gene therapy is the area where a real cure may one day come.
First (non-GSD) neuromuscular treatment
In the muscle arena, in May 2019 the US Food and Drug Administration gave its first approval for a gene therapy for a neuromuscular condition – Spinal Muscular Atrophy (SMA). Read the FDA announcement.
Trials starting in hepatic GSDs
On the hepatic side of GSD, there is currently a pilot human trial of a gene therapy in GSD1 – the first ever gene therapy trial in a GSD – and indications are that it is exceeding expectations. You can read about it in the GSD1 section.
It may well be that in due course there will be a great acceleration of developments in gene therapy. It holds the prospect of eventual cures for probably all GSDs.
Learn about the basics of gene therapy
An excellent video introduction to gene editing from The Royal Society.
More about research in your GSD
We have sections on research in many of the individual GSD sections of this web site, so look there for details of research into your own GSD.
For GSD5 we publish “The McArdle Disease Handbook” which is a guide to all the medical and scientific research there has been into that condition.
Lab work in London, from the Euromac video introduction to McArdle disease.
Clinical trials registries
Search the US, European and World Health Organisation registries.
For recent status of research that has reached the clinic for human studies, it is worth checking with the three clinical trial registries, using search terms and filters to focus the results on recent studies.
