When it comes to research in the world of a rare disease, sample size is everything, and engaging patients and their families is crucial.
A registry is a collection of data giving standardised information about a group of patients. We need to learn about normal variation in CDGs, how they progress over time, whether lab results are stable, and crucially, what we actually need to measure (the best biomarkers). The more information we have about CDGs, the better we can understand their causes and effects. The more we know about their causes and effects, the more we can research into potential therapeutic treatments. Therefore, signing up to a patient registry is a must.
Below is a list of patient registries available for CDG patients to contribute to. You may wonder why we don’t just have one registry for all patients, and that is a valid question! Unfortunately, there is fragmentation of data sources across Europe- there is very little sharing due to data protection and ownership rights. All registries should make it clear to you exactly what will happen to your data, how it will be stored, and who it will be shared with. You will need to give your consent for each registry.