American College Of Medical Genetics And Genomics Practice Guidelines Support Lifelong Therapy To Manage Phenylketonuria (PKU)

SAN RAFAEL, Calif., Jan. 13, 2014 (GLOBE NEWSWIRE) -- BioMarin Pharmaceutical Inc. (Nasdaq:BMRN) announced today that new practice guidelines issued by the American College of Medical Genetics and Genomics (ACMG) support the need for lifelong management of PHE levels in patients with phenylketonuria or PKU. The new diagnosis and management guidelines were published online in Genetics In Medicine's Advance Online Publication (AOP) service and provide the first update to recommendations for therapy of PKU since the 2001 National Institutes of Health Consensus statement.

The new guidelines state that treatment of PKU should be initiated as early as possible and must be continued throughout adulthood and "lifelong," with a goal of maintaining blood levels of phenylalanine (PHE) for all patients between 120-360 umol/L. Patients treated from the early weeks of life with initial good metabolic control, but who lose that control in later childhood or adult life, may experience both reversible and irreversible neuropsychiatric consequences. The guidelines also recommend changing the name of the disease from PKU to phenylalanine hydroxylase deficiency (PAH deficiency), a unifying nomenclature that reflects the continuous spectrum of disease severity. The guidelines specifically note that for, appropriate patients, use of Kuvan® (sapropterin dihydrochloride) should be considered to help lower PHE.

According to the new guidelines, "The primary goal of therapy is to lower blood PHE, and any interventions, including medications, or combination of therapies that help to achieve that goal in an individual, without other negative consequences, should be considered appropriate therapy."

Kuvan, the first and only prescription medication that helps patients lower blood PHE levels, is recognized for its potential benefits with 25-50 percent of PKU or PAH deficient patients cited as responsive to treatment with Kuvan. PEG PAL is an experimental therapy in Phase 3 of clinical development with a primary endpoint of PHE lowering, and a secondary endpoint of neurocognitive benefit.  The guidelines state that "an improvement in neuropsychiatric symptoms or increase in PHE tolerance, without a decrease in blood PHE levels in any patient, constitutes sufficient justification to continue therapy."

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