Care of Patients With Phenylketonuria (PKU) in Germany a Claims Data Analysis From 2013 to 2023
Author(s)
Axel Boehnke1, Lisa-Marie Mueller, Mrs2, Constantin Heidecke, Mr2, Alexa Benson, PhD2, Aljoscha S Neubauer, MD, MBA3, Ania C Muntau, MD4.
1Director Market Access EU North, PTC Therapeutics Germany GmbH, Frankfurt, Germany, 2Gesundheitsforen Leipzig, Leipzig, Germany, 3IfGPh Institut für Gesundheits- und Pharmakoökonomie GmbH, Muenchen, Germany, 4University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; German Center for Child and Adolescent Health (DZKJ), Hamburg, Germany.
1Director Market Access EU North, PTC Therapeutics Germany GmbH, Frankfurt, Germany, 2Gesundheitsforen Leipzig, Leipzig, Germany, 3IfGPh Institut für Gesundheits- und Pharmakoökonomie GmbH, Muenchen, Germany, 4University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; German Center for Child and Adolescent Health (DZKJ), Hamburg, Germany.
OBJECTIVES: Phenylketonuria (PKU) is a rare inherited metabolic disorder requiring lifelong management to prevent psychiatric, neurological and physical complications. This real-world claims data analysis aimed to evaluate the epidemiology, comorbidities, treatment patterns and health care resource utilization (HCRU) of PKU patients in Germany between 2013 and 2023.
METHODS: A retrospective analysis of anonymised claims data from 16 statutory health insurance (SHI) funds (~4.4 million insured, 5% representative SHI sample) was conducted. Patients with confirmed PKU (M1Q criterion) were included, with analyses performed depending on the research question descriptively, stratified by predefined age groups or reporting year, or using a 1:10 matched control group, with odds ratios calculated for selected outcomes.
RESULTS: PKU prevalence ranged from 4,949 to 6,105 individuals (0.007%-0.008%), with a five-year prevalence of 0.010% (52% female), consistent with published estimates. Compared to matched controls, significantly higher odds were observed for several comorbidities, including intellectual disability (OR 16.0), other metabolic disorders (OR 9.2), osteoporosis (OR 3.4), hyperkinetic disorders (OR 2.1) and recurrent depressive disorders (OR 1.6). Severity of intellectual disability was higher in older age groups. Fewer than 20% of patients received pharmacotherapy (sapropterin or pegvaliase), with a sharp decline in older age groups. Nutritional therapy was best documented in individuals aged 0-24 years, with an average rate of 49%, followed by a marked decrease in older age groups. PKU patients consistently incurred higher overall health care costs than controls. Rehabilitation care was more frequent among PKU patients, especially in children aged 2-12 years (5.6% vs. 0.3%), primarily due to developmental disorders and type 1 diabetes. In adults, rehabilitation was most commonly related to cardiovascular conditions, depressive and stress-related disorders, and type 2 diabetes.
CONCLUSIONS: PKU care shows clear age-dependent patterns in diagnostics and therapy. The results highlight the need for structured, interdisciplinary, and lifelong care.
METHODS: A retrospective analysis of anonymised claims data from 16 statutory health insurance (SHI) funds (~4.4 million insured, 5% representative SHI sample) was conducted. Patients with confirmed PKU (M1Q criterion) were included, with analyses performed depending on the research question descriptively, stratified by predefined age groups or reporting year, or using a 1:10 matched control group, with odds ratios calculated for selected outcomes.
RESULTS: PKU prevalence ranged from 4,949 to 6,105 individuals (0.007%-0.008%), with a five-year prevalence of 0.010% (52% female), consistent with published estimates. Compared to matched controls, significantly higher odds were observed for several comorbidities, including intellectual disability (OR 16.0), other metabolic disorders (OR 9.2), osteoporosis (OR 3.4), hyperkinetic disorders (OR 2.1) and recurrent depressive disorders (OR 1.6). Severity of intellectual disability was higher in older age groups. Fewer than 20% of patients received pharmacotherapy (sapropterin or pegvaliase), with a sharp decline in older age groups. Nutritional therapy was best documented in individuals aged 0-24 years, with an average rate of 49%, followed by a marked decrease in older age groups. PKU patients consistently incurred higher overall health care costs than controls. Rehabilitation care was more frequent among PKU patients, especially in children aged 2-12 years (5.6% vs. 0.3%), primarily due to developmental disorders and type 1 diabetes. In adults, rehabilitation was most commonly related to cardiovascular conditions, depressive and stress-related disorders, and type 2 diabetes.
CONCLUSIONS: PKU care shows clear age-dependent patterns in diagnostics and therapy. The results highlight the need for structured, interdisciplinary, and lifelong care.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
EPH38
Topic
Economic Evaluation, Epidemiology & Public Health, Study Approaches
Disease
Diabetes/Endocrine/Metabolic Disorders (including obesity), Neurological Disorders, Pediatrics, Rare & Orphan Diseases