EAN 2023 | The importance of clinical registries for improving treatment of rare diseases
Simona Balestrini, MD, PhD, from University College London, UK, discusses the benefits and challenges of developing rare disease registries to collate information from around the world. This type of global registry would ideally bring together data from a large number and range of patients to provide information about various aspects of disease such as progression, treatment response, drug safety, etc., to present clinicians with a data set on which to base their decision making. Registries can provide an organized, high quality, and inter-operable set of data, however, difficulties arise due to the lack of a standard operating procedure across the industry. Dr Balestrini gives Residras, an Italian Dravet syndrome registry, as an example of this kind of registry but one which needs to be expanded to international level to elevate the insights it can provide. Recorded at the 9th Congress of the European Academy of Neurology (EAN)® 2023 held in Budapest, Hungary.
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Transcript (edited for clarity)
Rare disease registries are an important tool because they allow us to put together data from a relatively high number of patients for rare diseases and they tell us what to expect in terms of disease evolution, in terms of treatment response, in terms of safety of drugs. So, registries really need to be developed more and more. One problem is how to do this because of course everyone could eventually set up a registry, but some kind of standardization is needed in this field so that we have a high quality, interoperable (this is a very important point for registries) dataset...
Rare disease registries are an important tool because they allow us to put together data from a relatively high number of patients for rare diseases and they tell us what to expect in terms of disease evolution, in terms of treatment response, in terms of safety of drugs. So, registries really need to be developed more and more. One problem is how to do this because of course everyone could eventually set up a registry, but some kind of standardization is needed in this field so that we have a high quality, interoperable (this is a very important point for registries) dataset. Then one could use these for different purposes, to know more about the natural history of the rare disease, to have access for a clinical trial, to decide what biomarkers are more important, to see what’s the long-term safety of the new drugs. So, there is really lots of information that a registry could give us, but they need to be built in a specific way in order to address the most important questions.
And so, Residras is one of the registries that has been designed for specifically Dravet syndrome and so far, has been populated in Italy, which I think now we have over 500 patients, but it’s also being expanded to international level. So ideally, we become an important tool for this rare epileptic encephalopathy, and it will be more and more important now that we have an increasing number of treatments for this condition.
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