Background: Sapropterin/BH4 is an approved drug for treatment of responsive PKU patients. The purpose of this study was to collect data on the use of Sapropterin/BH4 and its long-term effect on metabolic control and patient-related outcome in five European countries. Methods: A questionnaire was developed to assess quality of life (QOL), mood changes, adherence to diet, changes in blood Phe levels and Phe tolerance and patients' phenotype and genotype. Results: 129 patients from 11 European centers (42,5% MHP, 49,6 mild PKU, 7,9% classical PKU) were accessed (62 male, 67 female, age 2-46 years). No adverse events on Sapropterin/BH4 were reported. Average dose of Sapropterin/BH4 was 10,45 mg/kg/day; range 5,15. Improvement in QOL was reported qualitively in 52,3% (31,3% did not report); improvement in adherence to diet in 52,3% (in 17,2% question not applicable); improvement in mood was reported in 14,1% (in 41,4% question not applicable) of patients. Conclusion: Our data suggest a beneficial effect of sapropterin/BH4 in PKU patients who respond to oral administration of BH4 by lowering their blood Phe levels by > 30%; it increases daily tolerance for dietary Phe intake and improves dietary adherence and QOL. Conflict of Interest declared.
|Titolo:||Follow-up and outcome of PKU patients on sapropterin/BH4 : Preliminary results of a retrospective European Multicenter Study|
|Settore Scientifico Disciplinare:||Settore MED/38 - Pediatria Generale e Specialistica|
|Data di pubblicazione:||set-2012|
|Enti collegati al convegno:||Society for the Study of Inborn Errors of Metabolism|
|Appare nelle tipologie:||01 - Articolo su periodico|