Presentation (CTI)

OBJECTIVES: Phenylketonuria (PKU) is a rare metabolic disorder associated with substantial lifelong clinical and economic burden. Robust, nationally representative real-world evidence on PKU epidemiology and healthcare resource utilization (HCRU) in Germany is limited. Prior analyses based on a 5% statutory health insurance (SHI) sample indicate high comorbidity burden and potential treatment gaps. This study aims to provide representative estimates of PKU incidence and prevalence and to characterize HCRU, including healthcare contacts, specialist involvement, and treatment patterns.
METHODS: This observational study will use nationwide SHI claims data from the German Health Data Lab (~75 million insured) covering 2009-2023. PKU prevalence, treatment-related prescriptions and costs will be estimated in annual cross-sections. Retrospective cohort designs will be used for the analysis of characteristics including comorbidities and HCRU of prevalent and incident PKU patients. Among prevalent patients, pharmacological treatment, outpatient visits, hospitalizations, and utilization of specialist care will be assessed over 1- and 3-year follow-up periods. For the subgroup of incident patients aged 0-1 years, patterns of pharmacological and dietary therapies and time from diagnosis to treatment initiation will be analyzed. Analyses will be descriptive, stratified by age, sex, and comorbidity burden.
RESULTS: Analyses are ongoing. Based on previous evidence, PKU prevalence is expected to range from 6 to 8 per 100,000 insured individuals, corresponding to approximately 4,500-6,000 patients in the German SHI population. Detailed results of the nationwide analysis will be presented at the conference.
CONCLUSIONS: This study will provide comprehensive, nationally representative real-world evidence on PKU in Germany. The findings will address existing gaps in epidemiology and healthcare utilization and support health economic evaluations, clinical practice, and healthcare decision-making.