Phenylketonuria

August 9, 2010

BioMarin released positive preliminary results from a phase II trial of PEG-PAL (PEGylated recombinant phenylalanine ammonia lyase) for the treatment of phenylketonuria. This open-label, multi-center study enrolled 23 adults who were placed in a series of dose-escalating cohorts starting from 0.001 mg/kg. The primary endpoint was to evaluate the effect of PEG-PAL on blood Phe concentrations. Seven subjects received at least 1 mg/kg/week for at least four weeks in several different dosing frequencies (up to three times per week). Of these, six had Phe levels below 600 umol/L for at least three weeks and up to three months. Their baseline Phe levels were reduced from a median of 1,293 umol/L to a median of 527 umol/L, representing an approximate 60% reduction in blood Phe. Two subjects had blood Phe levels documented below 5 umol/L. Injection site reaction was the most common treatment emergent adverse event.

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