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