Calculating The Prevalence of Urea Cycle Disorders In The Eu5 Using An Incidence-Survival Model.

Background • Therapies for rare diseases have ignited industry-wide debates concerning patient access, pricing and efficacy. Urea cycle disorders (UCD), a genetic rare disease, is a target for enzyme replacement therapies, yet UCD epidemiology data are scarce. For payers and pharmaceutical companies to accurately forecast patient cost of care, accurate patient population estimates are a necessity. Objectives • The objective of this study is to estimate the prevalence of UCD in the 0–17 year-old population in five major European markets (EU5) (France, Germany, Italy, Spain, UK). Methods • We included males and females ages 0-17 years. We excluded patients older than 17 years to remove the mild patients, who may not require therapy, and have a population that better represents severe patients requiring chronic, expensive treatment. • We designed an incidence-survival model utilizing birth incidence, annual lifeexpectancy and country-specific newborn data. Birth incidence estimates for UCD were obtained from the Urea Cycle Disorders Consortium (UCDC). • We conducted a literature review to determine the annual life expectancy of UCD. • Finally, we reviewed available EU5 newborn census data to obtain the number of newborns in each country from 2001 to 2012. We extrapolated the trend from 2001-2012 to forecast the number of newborns through 2024. These data were entered into the incidence-survival model to calculate the prevalence of UCD from 2015-2024.