The financial and time burden associated with phenylketonuria treatment in the United States

Abstract

BackgroundPhenylketonuria (PKU) imposes a substantial burden on people living with the condition and their families. However, little is known about the time cost and financial burden of having PKU or caring for a child with the condition.Methods and findingsPrimary data were collected with a detailed cost and utilization survey. Primary outcomes included utilization and out-of-pocket costs of medical services, medical formula, and prescribed low-protein food consumption, as well as the time and perceived effort involved in following the PKU diet. Respondents were people living with PKU or parents of children with PKU identified through a state newborn screening program database. Secondary administrative claims data were also used to calculate mean total, insurer, and out-of-pocket payments in inpatient, outpatient (office visits, emergency room, and laboratory tests), and pharmacy settings for privately insured persons with PKU. Payments were calculated for sapropterin and for PKU formula.In primary data analysis (children n = 32, adults n = 52), annual out-of-pocket costs were highest for low-protein foods (child = $1651; adult = $967) compared with other categories of care. The time burden of PKU care was high; families reported spending more than 300 h per year shopping for and preparing special diet foods.In secondary data analysis, children 12–17 years old had the highest average medical expenditures ($54,147; n = 140) compared to children 0–11 years old ($19,057; n = 396) and adults 18 years and older ($40,705; n = 454). Medication costs were the largest contributor to medical costs, accounting for 61–81% of total costs across age groups. Sapropterin was the largest driver of medication costs, accounting for 85% of child medication costs and 92% of adult medication costs.ConclusionTreatment for PKU incurs a substantial time and cost burden on persons with PKU and their families. Estimated medical expenditures using claims data varied by age group, but sapropterin represented the largest cost for PKU treatment from a payer perspective across age groups.

Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness

“…State transition probabilities, treatment effects, and adherence rates were derived from published literature and supplemented by expert opinion. Primary data from a national survey fielded to US adults for health-related quality of life, and a survey fielded to individuals with PKU (or their parents) informed inputs for treatment costs, time associated with recommended treatments, and quality of life adjustments [ 19 , 20 ].…”

“…Previous economic evaluations have shown substantial cost savings associated with newborn screening for PKU and dietary treatment for diagnosed individuals [ 13 , 14 , 15 , 16 , 17 , 18 ]. However, these evaluations did not include variable adherence to the dietary treatment or the consideration of sapropterin dihydrochloride as an additional treatment option, which is highly costly (approximately $50,000–$120,000 per individuals per year) [ 19 ]. The objective of this study was to evaluate the cost-effectiveness of newborn screening and treatment for phenylketonuria (PKU) given new findings on adherence to dietary recommendations and to include the availability of sapropterin dihydrochloride as a treatment option concurrent with dietary treatment for select individuals with PKU.…”

Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe

“…For some patients in the United States a private, third-party payer system is in place [16]. Medical foods may not be covered by insurance providers and can add substantial financial burdens to families [17]. There are different health organizations across European nations, with variations in coverage according to the system with variable affordability and availability of medical foods [18].…”

Manajemen Beban dengan Pendekatan Terapi Keluarga Triangles dalam Mengatasi Beban Subjektif Keluarga Merawat Klien Diabetes Melitus

“…Hasil penelitian membuktikan bahwa merawat klien dengan penyakit fisik dapat meningkatkan beban waktu bagi keluarga (Rose et al, 2019). Penelitian lain membuktikan bahwa 31% caregiver yang merawat anak yang menderita mucopolysaccharidosis mengurangi jam kerja mereka dalam 6 bulan terakhir, dan 81% caregiver mengatakan kesulitan dalam melakukan pekerjaan karena merawat anak mereka (Conner, Cook, Fernandez, & Rangel-Miller, 2019).…”