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."
"We have made great strides in recent years in the understanding and management of PKU. Thanks to the American College of Medical Genetics and Genomics, we now know just how important it is for patients with PAH deficiency to continue lifelong management of their condition," said Hank Fuchs, M.D., Chief Medical Officer of BioMarin. "BioMarin is committed to the PKU community and is developing PEG PAL, a potential treatment option for patients age 16 and older who are struggling to achieve and maintain blood PHE levels within the recommended ranges. Treatments like Kuvan and the development of new therapies are critical to helping patients with PKU or PAH deficiency lead long, fulfilling lives."Evidence for the new guidelines are drawn from two previous independent review processes from the National Institutes of Health (2001) and the Agency for Health Research and Quality (2012). The guidelines can be accessed online at: https://www.acmg.net/docs/Phenylalanine_Hydrosylase_Deficiency_Practice_Guideline_AOP_Jan_2013.pdf About PKU or PAH Deficiency Phenylketonuria (PKU) or phenylalanine hydroxylase (PAH) deficiency is a genetic disorder affecting approximately 50,000 diagnosed patients in the developed world and is caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH), this enzyme is required for the metabolism of phenylalanine (PHE), an essential amino acid found in most protein-containing foods. If the active enzyme is not present in sufficient quantities, PHE accumulates to abnormally high levels in the blood and becomes toxic to the brain, resulting in a variety of complications including severe intellectual disability, seizures, tremors, behavioral problems and psychiatric symptoms. As a result of newborn screening efforts implemented in the 1960s and early 1970s, virtually all individuals with PKU or PAH deficiency under the age of 40 in developed countries are diagnosed at birth and treatment is implemented soon after. PAH deficiency can be managed with a PHE-restricted diet, which is supplemented by low-protein modified foods and PHE-free medical foods; however, the strict diet is difficult for most patients to adhere to the extent needed for achieving adequate control of blood PHE levels. Kuvan, the first and only prescription medicine of its kind, may help individuals with PAH deficiency lower blood PHE levels when used in conjunction with a PHE-restricted diet, more than the use of diet alone. To learn more about PAH deficiency, please visit www.PKU.com. Information on this website is not incorporated by reference into this press release. Some of the signs and symptoms of high blood PHE include:
- For infants and children: severe intellectual disability and developmental delay, skin rash (eczema), light-colored skin, eyes and hair (hypopigmentation)
- For teens and adults: lower intelligence, psychological and psychiatric symptoms like anxiety, depression and phobias, problems with memory and performing tasks (executive function), poor concentration and irritable mood among other things.
- For pregnant women: increased risk for the baby's growing brain, including risk of intellectual disability, increased risk for a small head (microcephaly) and other problems such as a heart malformation (congenital heart defect) and poor overall growth (intrauterine growth retardation). This teratogenic effect of PHE on the developing fetus is called Maternal PKU syndrome.
CONTACT: Investors Traci McCarty BioMarin Pharmaceutical Inc. (415) 455-7558 Media Debra Charlesworth BioMarin Pharmaceutical Inc. (415) 455-7451