The time consuming nature of phenylketonuria: a cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands.

BACKGROUND: Phenylketonuria (PKU) is a rare inborn error of metabolism that affects the ability of patients to metabolise phenylalanine (Phe). Lifelong management of blood Phe levels is required in order to avoid the complications associated with PKU. This constitutes a severely protein restricted diet, and regular monitoring of Phe levels. Management of PKU may be costly and time-consuming for adult patients or caregivers of PKU-affected children. A cross-sectional study was performed with patients or their caregivers in the Netherlands to gain insight into the personal time burden and cost of living with PKU. METHODS: A systematic literature review was performed to identify all aspects of PKU management that may pose a financial or time burden on patients or caregivers. Findings were confirmed through interviews with PKU experts and feedback from patients and caregivers, and consolidated into a questionnaire that aimed to evaluate the impact of each of these factors. Early and continuously treated adult patients and caregivers from seven metabolic centres were recruited to complete the questionnaire online. RESULTS: 22 adult patients and 24 caregivers participated in the study. Managing a Phe-restricted diet represented an extra time burden of 1 h and 24 min for caregivers and 30 min for adult patients per day. Caregivers reported a significantly higher time burden than adult patients. The median total out-of-pocket cost (OOPC) for patients was €604 annually, with 99% of expenditure on low-protein food products. Greater disease severity was significantly associated with increased OOPC and time burden for both adult patients and caregivers. CONCLUSIONS: Management of PKU is associated with a considerable time burden for both caregivers of children with PKU and adult patients. Caregivers of PKU-affected children reported a significantly higher time burden than adult patients. The OOPC of caregivers and patients was mainly driven by the expenditure on low protein food.

Patient satisfaction following transition from the original to the new formulation of subcutaneous interferon beta-1a in relapsing multiple sclerosis: a randomized, two-arm, open-label, Phase IIIb study.

OBJECTIVE: To assess satisfaction with the serum-free formulation of subcutaneous (sc) interferon (IFN) beta-1a among patients with relapsing multiple sclerosis (MS). METHODS: Patients with relapsing MS who had been receiving sc IFN beta-1a for at least 6 months, were transitioned to the new formulation, 44 mug three times weekly. Patients were randomized to preventative ibuprofen (400 mg 30-60 minutes prior to injection) or ibuprofen as needed (PRN) for 4 weeks. The primary endpoint was the 'flu-like' symptom (FLS) domain score of the validated Multiple Sclerosis Treatment Concern Questionnaire (MSTCQ). RESULTS: Of the 117 patients enrolled, 109 (93.2%) completed the study. Neither group's MSTCQ FLS score showed a clinically meaningful change from baseline to week 4: mean +/- SD changes were -1.1 +/- 4.4 in the preventative ibuprofen group and 0.8 +/- 3.6 in the ibuprofen PRN group. MSTCQ injection system satisfaction and global side-effect scores were unchanged; total and injection-site reaction scores improved moderately in both groups between baseline and week 4. CONCLUSIONS: Results showed continued or increased levels of satisfaction with the new formulation of sc IFN beta-1a. FLS occurring with the new formulation were generally mild and seldom sufficiently bothersome to require ibuprofen treatment.