One of the main challenges faced by all companies conducting strategic planning for rare diseases is obtaining accurate data on the size of these often complex patient populations. The challenge of accurately estimating the prevalence of rare diseases is illustrated in the literature, where prevalence figures often span strikingly wide ranges – sometimes varying by orders of magnitude between studies. This level of uncertainty affects every step of the molecule-to-market planning cycle. The growing availability of large-scale genetic databases offers a solution to close the gap on wide ranging rare disease prevalence estimates, and can complement the data derived from other sources including the literature and information gathered from clinical practice.
Rare Disease Day presents a time to reflect on the progress made in understanding and addressing the unique challenges that rare diseases bring – and the hurdles that remain. Over the past year, several significant developments have shaped the rare disease landscape, from new regulatory policies and technological advancements to major advocacy efforts.
Fabry disease is a rare genetic X-linked disease caused by pathogenic genetic variants in the GLA gene. As with other rare genetic conditions, of which there are thought to be over 7000, accurately determining the prevalence of Fabry disease is challenging. Using HealthLumen’s genetic database mining methodology, our recent study suggests that Fabry disease prevalence in the US may considerably exceed previous estimates.
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