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News from Medical News Today Nov. 6,
2007
Expanded Access Program For
Treatment Of PKU, A Rare Genetic Metabolic Disorder
Nationwide Children's Hospital has announced ts 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.
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Article adapted by Medical News Today from original press release.
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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 http://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.
Source: Mary Ellen Fiorino
Nationwide Children's Hospital
From
http://www.medicalnewstoday.com/articles/87850.php
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