Approximately 5,000 to 7,000 conditions fit the definition of a rare disease (RD), with more than 50 million people affected worldwide. Because of small sample sizes and logistic constraints, it is unlikely that randomised controlled trials (RCTs) will be performed for many of these conditions; actionable information is most likely to be obtained from meticulous analysis of the treatment of different patients by different methods.

RCTs are regarded as the gold standard for clinical decision-making. However, the generalisability of data from RCTs is often limited for the following reasons:

• Highly selected patient populations

• Often limited to specific geographic settings

• Most data pertain to hospitalised patients

Thus, due to the widely-dispersed small number of patients with a given RD, there is generally a lack of validated biomarkers and endpoints. This poses a major challenge for generating clinical data used in healthcare decision-making. A solution to this challenge is the utilisation of RD registries. Registries can provide a rich source of real-world evidence to aid healthcare providers, payers, and regulators in decision-making.

The objective of this review was to systematically identify and assess key characteristics of RD registries reporting patient data from the EU5 countries.

Authors: Palvi Gupta - Senior Analyst, Jatinder Kumar, Jatin Gupta

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