Nationwide Children's Hospital involved in expanded access program for treatment of PKU

November 05, 2007

Nationwide Children's Hospital announced today its involvement in an expanded access program for sapropterin dihydrochloride, or sapropterin, an investigational treatment for phenylketonuria (PKU), a rare genetic metabolic disorder that, if left unmanaged in infants and children, can result in severe mental retardation. Currently, there are eight patients enrolled in the expanded access program at Nationwide Children's.

Under an expanded access program, the U.S. Food and Drug Administration (FDA) allows early access to drugs that are being developed to treat serious diseases based on certain circumstances.

Individuals with PKU are born with a deficient enzyme called phenylalanine hydroxylase (PAH). With little or no PAH activity, they are unable to metabolize an essential amino acid, called phenylalanine (Phe), which is found in most foods including meat, eggs, dairy, nuts, pasta, bread and all fruits and vegetables. When Phe cannot be metabolized by the body, abnormally-high levels of it accumulate in the blood and are toxic to the brain, potentially causing brain damage that can result in severe mental retardation, seizures, tremors, phobias and general mental and behavioral decline. The only way that PKU patients can manage their disorder is by monitoring their daily intake of Phe; however, compliance with diet is a major problem for PKU patients due to limited food choices, the social limitations of following a strict diet, the poor taste of required formulas, and the availability and cost of specially-produced low-Phe foods.

"By making sapropterin available through expanded access, we hope patients living with PKU will experience lower Phe levels and increased Phe tolerance," said Kim McBride, MD, MS an investigator in the Center for Molecular and Human Genetics at The Research Institute at Nationwide Children's Hospital, and a faculty member at The Ohio State University College of Medicine. "Since elevated Phe levels are toxic to the brain and can lead to severe health complications, we are encouraged there may be a new drug treatment designed to manage Phe levels in this patient population."

Patients with a confirmed diagnosis of hyperphenylalaninemia due to PKU who are older than 8 years of age, not currently enrolled in a clinical study with sapropterin, meet the inclusion criteria, and do not meet any of the exclusion criteria, may be eligible to participate in this program.
-end-
It is estimated that approximately 12,000 infants in the United States are born with PKU, and about 50,000 people younger than 40 have the disorder in the developed world. To learn more about PKU, visit www.PKU.com.

About Sapropterin

Sapropterin (if approved by the FDA, the brand name is expected to be Kuvan™) is an investigational oral small molecule therapeutic for the treatment of PKU. In Phase 3 clinical studies, sapropterin has been shown to lower blood Phe levels and increase Phe tolerance in patients with PKU. A new drug application for sapropterin was submitted to the FDA in May 2007 by BioMarin Pharmaceutical Inc., and if granted priority review status, sapropterin could receive approval by the end of 2007.

Nationwide Children's Hospital

Related Brain Articles from Brightsurf:

Glioblastoma nanomedicine crosses into brain in mice, eradicates recurring brain cancer
A new synthetic protein nanoparticle capable of slipping past the nearly impermeable blood-brain barrier in mice could deliver cancer-killing drugs directly to malignant brain tumors, new research from the University of Michigan shows.

Children with asymptomatic brain bleeds as newborns show normal brain development at age 2
A study by UNC researchers finds that neurodevelopmental scores and gray matter volumes at age two years did not differ between children who had MRI-confirmed asymptomatic subdural hemorrhages when they were neonates, compared to children with no history of subdural hemorrhage.

New model of human brain 'conversations' could inform research on brain disease, cognition
A team of Indiana University neuroscientists has built a new model of human brain networks that sheds light on how the brain functions.

Human brain size gene triggers bigger brain in monkeys
Dresden and Japanese researchers show that a human-specific gene causes a larger neocortex in the common marmoset, a non-human primate.

Unique insight into development of the human brain: Model of the early embryonic brain
Stem cell researchers from the University of Copenhagen have designed a model of an early embryonic brain.

An optical brain-to-brain interface supports information exchange for locomotion control
Chinese researchers established an optical BtBI that supports rapid information transmission for precise locomotion control, thus providing a proof-of-principle demonstration of fast BtBI for real-time behavioral control.

Transplanting human nerve cells into a mouse brain reveals how they wire into brain circuits
A team of researchers led by Pierre Vanderhaeghen and Vincent Bonin (VIB-KU Leuven, Université libre de Bruxelles and NERF) showed how human nerve cells can develop at their own pace, and form highly precise connections with the surrounding mouse brain cells.

Brain scans reveal how the human brain compensates when one hemisphere is removed
Researchers studying six adults who had one of their brain hemispheres removed during childhood to reduce epileptic seizures found that the remaining half of the brain formed unusually strong connections between different functional brain networks, which potentially help the body to function as if the brain were intact.

Alcohol byproduct contributes to brain chemistry changes in specific brain regions
Study of mouse models provides clear implications for new targets to treat alcohol use disorder and fetal alcohol syndrome.

Scientists predict the areas of the brain to stimulate transitions between different brain states
Using a computer model of the brain, Gustavo Deco, director of the Center for Brain and Cognition, and Josephine Cruzat, a member of his team, together with a group of international collaborators, have developed an innovative method published in Proceedings of the National Academy of Sciences on Sept.

Read More: Brain News and Brain Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.