Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine

R. Matalon, K. Michals-Matalon, G. Bhatia, A. B. Burlina, A. P. Burlina, C. Braga, L. Fiori, M. Giovannini, E. Grechanina, P. Novikov, J. Grady, S. K. Tyring, F. Guttler

Research output: Contribution to journalArticlepeer-review

68 Scopus citations

Abstract

Large neutral amino acids (LNAA) have been used on a limited number of patients with phenylketonuria (PKU) with the purpose of decreasing the influx of phenylalanine (Phe) to the brain. In an open-label study using LNAA, a surprising decline of blood Phe concentration was found in patients with PKU in metabolic treatment centres in Russia, the Ukraine, and the United States. To validate the data obtained from this trial, a short-term double-blind placebo control study was done using LNAA in patients with PKU, with the participation of three additional metabolic centres - Milan, Padua and Rio de Janeiro. The results of the short trial showed significant lowering of blood Phe concentration by an average of 39% from baseline. The data from the double-blind placebo control are encouraging, establishing proof of principle of the role of orally administered LNAA in lowering blood Phe concentrations in patients with PKU. Long-term studies will be needed to validate the acceptability, efficacy and safety of such treatment.

Original languageEnglish (US)
Pages (from-to)153-158
Number of pages6
JournalJournal of Inherited Metabolic Disease
Volume30
Issue number2
DOIs
StatePublished - Apr 2007

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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