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An introduction to GSD research

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.

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.

Areas for enquiry

Diet, exercise, medication and gene therapy are all areas already playing a part in helping patients and are very worthy of further research.

Gene therapy trials starting

Gene therapy is the area where a real cure may one day come. There is currently a pilot human trial of gene therapy in GSD1 – the first ever gene therapy trial in a GSD. 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 this area.

More about research

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.