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.

Follow-up and outcome of PKU patients on sapropterin/BH4 : Preliminary results of a retrospective European Multicenter Study / S. Keil, I. Kern, K. Anjema, F. Van Spronsen, A. Bosch, N. Lambruschini, M.L. Couce, A. Burlina, R. Cerone, E. Riva, M. Giovannini, C. Meli, F. Feillet, A.S. Lotz Havla, A.C. Muntau, A. Belanger Quintana, N. Blau. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 0141-8955. - 35:Suppl. 1(2012 Sep), pp. S42-S42. ((Intervento presentato al convegno Annual Symposium of the Society for the Study of Inborn Errors of Metabolism tenutosi a Birmingham nel 2012.

Follow-up and outcome of PKU patients on sapropterin/BH4 : Preliminary results of a retrospective European Multicenter Study

E. Riva;M. Giovannini;
2012

Abstract

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.
Settore MED/38 - Pediatria Generale e Specialistica
set-2012
Society for the Study of Inborn Errors of Metabolism
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/204353
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