The last five years have seen great strides in finding ways to improve treatment for PKU. We are pleased to share our annually funded research awards that focus on new and innovative treatment options for PKU and accelerating the timeline for a cure.
Click here for a list of the 2010
Click here for a list of the 2011
Click here for a list of the 2012
Click here for a list of the 2013
Click here for a list of the 2014
Below is a brief synopsis of work being done by leading researchers across the country to improve PKU treatment options.
PKU AND THE BRAIN
In January, 2010 the Molecular Genetics and Metabolism scientific journal published a supplement on PKU and the Brain. Since then, other new research findings have also been published on PKU and neurocognitive effects. To learn more about this groundbreaking research of PKU in neurocognitive development, executive function, and psychology in patient-friendly language, please click here.
COFACTOR THERAPY (KUVAN)
The first drug for PKU was approved by the FDA in December 2007. Kuvan, improves Phe tolerance in some PKU patients by increasing BH4 in the body, the co-factor to the PAH enzyme that does not work in those with PKU. Kuvan essentially stimulates the PAH enzyme, which in turn starts to process Phe. While Kuvan does not replace the diet, it can improve Phe tolerance in about 40% of PKU patients. There is currently no genotype indicator for Kuvan responsiveness, so a physician must put a person with PKU on the drug for a trial period to evaluate its effectiveness.
To learn the latest published research on recommendations related to Kuvan, please
ENZYME SUBSTITUTION (PEG-PAL)
In enzyme substitution, researchers discovered an alternate enzyme found in plants and bacteria that can breakdown Phe. In order for the enzyme (PAL) to work, a protector (PEG), or “coater” needs to be placed around the enzyme to help it from breaking down quickly in the body and protecting the enzyme from the immune response. The result, is PEG-PAL, an injectible medicine that has shown to lower Phe levels in PKU mice. PEG-PAL recently completed Phase 2 FDA clincial studies. In this phase, 23 adult patients enrolled in the study for an average of 111 days. All patients in the study experienced a decrease in blood phenylalanine levels. The most common side effect in the study has been injection site reaction.
BioMarin has recently begun to move forward with the Phase 3 Trial for PEG-PAL. This is the final phase that will bring PEG-PAL from an investigational program to a commercial status for the company and includes a PEG-PAL study, Prism 301. The Prism 301 clinical research study will test PEG-PAL as a potential new type of treatment for adults with PKU. This study is for people 18 to 70 years of age. To access the Prism 301 study fact sheet, please click here.
To learn more about the PEG-PAL trial and how you can get involved, visit www.pegpaltrial.com.