How registries can be used to advance our understanding of the CF population

By Abaigeal Jackson and Christopher Goss

Patient or disease registries were first used in monitoring health over 60 years ago [1]. For rare diseases like cystic fibrosis (CF), these early efforts were instrumental in defining the population with the disease and tracking their clinical outcomes.

People living with rare diseases today face particular challenges including treatment availability, a lack of resources, and disease severity. Special efforts are required to undertake research for better treatments and possible cures [[2], [3]]. With CF, set standards in specialised care [4] allow high-quality care to be delivered to patients through networks of specialist or accredited CF centres in many countries. CF registries work by bringing patient data together from specialist CF centres and accumulating data on a relatively rare condition over patients’ lifetimes. The strength of CF registry studies therefore originates from the large number of subjects studied, high rates of coverage by the patient registries and lengthy patient follow-up [5].

One of the more comprehensive CF patient registries is the US CF Foundation Patient Registry (CFFPR). In 1966, the CFFPR was established to study the natural history of the disease and now contains detailed data on >48,000 individuals with CF [5]. Using national birth and death data, the CFFPR estimates that it holds information on 81–84% of all people with CF in the US. The CFFPR has been used to evaluate survival and temporal changes in survival, predictors of survival, and many other clinical studies in CF [[6], [7]]. Similar advances have come from other registries. Data from the European CF Society Patient Registry (ECFSPR) was used to project the number of European CF patients in 2025 [8], and provide knowledge about differences in average year to year lung function decline among CFTR mutation classes [[8], [9]].

In this review, we address key aspects of CF registries including 1) the origin of national CF registries, 2) the use of registries for monitoring the health of the population, 3) the power of conducting longitudinal analysis of registry data, 4) knowledge gleaned from changing demographics, 5) the evolving area of international comparisons of registries, 6) strategies for sustaining registries and 7) CF registries of the future. CF patient registries have both strengths and weaknesses. With a rare disease like CF, the strengths and opportunities for advancing CF science clearly outweigh the weaknesses inherent to observational data.

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