Patient registries for rare diseases are a fundamental research effort which support a number of activities. They are key instruments for increasing knowledge by pooling data on patients for fundamental and clinical research, epidemiological research, and observational studies.
IamGSD is engaged with two patient registries relevant to people affected by muscle GSDs – Euromac and CoRDS.
Both are registries of patients affected by McArdle disease and by other forms of rare neuromuscular glycogenosis where exercise intolerance is the main symptom. (This in effect means all the muscle GSDs, with the exception of GSD2 Pompe disease, which has its own registry.)
THE EUROMAC REGISTRY
Euromac is a initiative of the European Union and was launched in 2013. It now has around 400 patients registered. Data is entered by medical professionals who have been appointed to the task.
Although open to patients worldwide, in practice due to the professional entry approach, it is almost exclusively patients attending European centres for muscle GSDs that have been entered. The Euromac web site and publications are available in nine languages.
The data has already been used to report on these conditions and to source patients for multi-centre trials.
Coordination of Rare Diseases at Sanford
To be launched first quarter of 2020.
IamGSD has worked with Sanford to create a registry specific to muscle GSD within the CoRDS umbrella. Based at Sanford Research, a nonprofit research institution in the US, CoRDS is a centralized international patient registry for all rare diseases.
This muscle GSD registry is primarily aimed at patients in North America, but is open to patients worldwide. The registry is only available in English.
Our CoRDS registry will be open to patients to self-register and will be available on-line and as a paper document.