BioMarin announces preliminary results from ADAPT in patients suffering from PKU

BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today preliminary results from ADAPT (A Diversified Approach for PKU Treatment) in an abstract (Abstract #91, Mental Health Screening in Phenylketoniuria (PKU) Clinic) presented by Barbara Burton, MD at the 2011 annual American College of Medical Genetics (ACMG) conference in Vancouver, Canada.  ADAPT, which was funded by a grant from BioMarin, is the first multi-center study suggesting the importance of mental health screening at clinics for patients suffering from PKU.  Although numerous studies have demonstrated a definite correlation between blood Phe (phenylalanine) levels -- currently the sole indicator used to assess PKU treatment -- and psychiatric impairment, very few PKU clinics in the U.S. screen patients for neuropsychiatric function.  As a result, PKU patients with psychiatric impairment may go undiagnosed and untreated.  

"The interim results from ADAPT are important to clinicians, patients and patients' families because neuropsychiatric impairment can have a devastating impact on the success of overall PKU treatment; yet, mental health screening is not a part of standard PKU treatment practice," said study investigator Barbara Burton, MD, Professor of Pediatrics, Northwestern University Feinberg School of Medicine, Director, PKU Clinic, Children's Memorial Hospital. "ADAPT is the first multi-center study to suggest the importance of routine mental health screening at clinics for patients with PKU.   By adding simple questionnaires to a routine PKU clinic visit, treating clinicians have the potential to assess psychiatric symptoms and neurocognitive function and, if appropriate, refer patients to a mental health professional. This new standard of care could improve not only the care and quality of life of patients but also adherence to a PKU treatment plan."  

To measure neuropsychiatric impairment, patients already treated at PKU clinics were screened for psychiatric distress and cognitive impairment using standard neuropsychiatric assessment tools.  Individual test results were then correlated to patients' blood Phe levels.  The study found that patients who screened positive for psychiatric deficiencies had significantly higher blood Phe levels than patients who screened negative.

"Up until now, lowering blood Phe levels has been the only success measure in the treatment of PKU.  We believe ADAPT study results are an important step toward improving the overall care of PKU patients.  The data indicate that physicians have the opportunity to more easily identify those patients with neuropsychiatric and cognitive impairments, and better understand the impact of the link between Phe and these deficits, by simply incorporating mental health screening into the current standard of care," said Hank Fuchs, M.D., Chief Medical Officer of BioMarin.

Additional KUVAN Poster Presentations at ACMG

Other presentations at ACMG describe ongoing studies designed to further examine the use of KUVAN® (sapropterin dihydrochloride) Tablets for PKU, with endpoints of neuropsychiatric effects and long-term safety in children. KUVAN is the first and only FDA approved treatment to reduce blood Phe levels in patients with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4-) responsive PKU, and is to be used in conjunction with a Phe-restricted diet.

• PKU-016 / ASCEND Outcomes Study: Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in PKU Subjects – Clinical Study Design (S Stahl, et al, University of California, San Diego, Calf.)  [Poster 189 – March 18, 10:30-11:30 am]. The ongoing double-blind, placebo-controlled, randomized (1:1) 26-week outcomes study is evaluating the safety and efficacy of Sapropterin Dihydrochloride (the active ingredient in KUVAN) on endpoints that include measures of global functioning and the symptoms of attention deficit hyperactivity disorder (ADHD), depression, anxiety and executive functioning in 200 individuals with PKU.  
• PKU-015 Interim Report: A Phase IIIB Study of Sapropterin Dihydrochloride (KUVAN) in Young Children with PKU (N Longo, Pediatrics, University of Utah and A Feigenbaum, Hospital for Sick Children, Toronto, Ontario) [Poster 96 – March 19, 10:30 - 11:30 am].  The poster presentation included preliminary data from a Phase IIIb, open-label, clinical study evaluating the long-term efficacy and safety KUVAN in preserving neurocognitive function in young (age 0 to six years of age) children with PKU.  Data will include the first 80 patients, of the total expected approximately 100 patients, as the study is ongoing.

Copies of the scientific abstracts presented at the ACMG conference are available upon request by calling the BioMarin Corporate Communications Department.