Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria

Publication date: Available online 7 August 2019Source: Molecular Genetics and MetabolismAuthor(s): Roberto Zori, Kirsten Ahring, Barbara Burton, Gregory M. Pastores, Frank Rutsch, Ashok Jha, Elaina Jurecki, Richard Rowell, Cary HardingAbstractPhenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) deficiency, resulting in high blood and brain Phenylalanine (Phe) concentrations that can lead to impaired brain development and function. Standard treatment involves a Phe-restricted diet alone or in conjunction with sapropterin dihydrochloride in responsive patients. The Food and Drug Administration approved pegvaliase enzyme substitution therapy for adults with blood Phe>600 μmol/L in the US. Recently, the European Commission also approved pegvaliase for treatment of PKU patients aged 16 years or older with blood Phe>600 μmol/L. The analyses presented below were conducted to provide comparative evidence on long-term treatment effectiveness of pegvaliase versus standard of care in adults with PKU.Adult patients (≥18 years) with baseline blood Phe>600 μmol/L who had enrolled in the pegvaliase phase 2 and phase 3 clinical trials were propensity score-matched to historical cohorts of patients treated with “sapropterin + diet” or with “diet alone”. These cohorts were derived from the PKU Demographics, Outcome and Safety (PKUDOS) registry and compared for clinical outcomes including blood Phe concentration and natural intact protein intake after 1 and...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research