National epidemiological study in rare disease: protocol design through ethics approval, data collection, and peer-reviewed publication

In two priority markets, the brand's HTA submissions for a rare disease treatment were facing a consistent payer objection: the epidemiological data submitted was not locally generated, and the payer bodies were not accepting it as sufficient evidence of local unmet need.

Local epidemiological data did not exist because no one had conducted the study. The specialist community was too small and too underfunded to run it independently. The brand had the commercial incentive to generate the data but needed to do so with a level of methodological rigour that would be accepted by independent reviewers and cited in clinical and HTA contexts.

The study needed to be conducted in a way that was scientifically credible, ethics-compliant, transparent about the sponsor's involvement, and replicable — because the expectation was that results from the first market would be used to design the study in the second.

Local epidemiological data is not just useful for HTA submissions — it is the scientific foundation that legitimises the product's place in local clinical practice. Generating it is a long-term investment in the evidence ecosystem.