- Leading PKU expert Dr. Jerry Vockley calls for comprehensive access to
all treatment options for patients with rare and brain-threatening
EDMONTON, Oct. 31, 2013 /CNW/ - Yesterday, Canadian PKU and Allied
Disorders (CanPKU) welcomed one of the world's leading Phenylketonuria
(PKU) researchers to the Stollery Children's Hospital in Edmonton. Dr.
Jerry Vockley, Chair of the Therapeutics Committee with the American
College of Medical Genetics, presented newly-released guidelines which
he lead-authored on the treatment of PKU - a rare, inherited
brain-threatening metabolic disorder. The new guidelines, co-authored
by two other Canadian experts, underscore the clinical need for
comprehensive access to all available treatments for the condition.
"These first-ever clinical practice guidelines for PKU further reinforce
the need for broad access to all available treatments for PKU - be it
formula, medical foods, or pharmaceutical products - in order to
protect the brains of children, adolescents and adults with this
potentially devastating condition," says Dr. Vockley, the Chief of
Medical Genetics, Children's Hospital, University of Pittsburgh Medical
Center. "Access to the combination of these three approved treatment
types for PKU is of enormous importance to lowering brain-damaging Phe
in the blood to acceptable levels, thereby achieving improved patient
PKU is observed when the body is unable to process phenylalanine
("Phe"), an essential amino acid found in dietary protein. The
resulting accumulation of Phe in the blood is toxic to the brain, and
if left untreated, symptoms can range from mild cognitive impairment to
severe mental retardation. Approximately 1 in 12,000 to 15,000 infants
in Canada is born with PKU. All provinces and territories, including
Alberta, offer newborn screening tests to determine if a child is born
with PKU. If PKU is detected, the appropriate treatment must be
initiated immediately and maintained throughout life to ensure normal
brain development. A three-pronged treatment approach for PKU -
consisting of metabolic formula, medical foods and Kuvan (sapropterin
dihydrochloride) - is widely recommended, but not adequately funded in
Funding for PKU treatments across Canada inconsistent
Depending on the province, patient access to publicly-funded treatments
for PKU through provincial drug programs is varied - raising a question
of inequity amongst PKU families across Canada. Nearly all provinces
provide access to a special low-protein formulai, the basis of the complicated and highly-restrictive PKU diet for the
past 50 yearsii, and at least some access to special medical foods for PKU patients.
The introduction of the only Health Canada approved drug therapyiii for PKU, Kuvan, marks a new innovation that can help patients better
manage toxic levels of Phe in their blood - but provincial
reimbursement for the drug through public drug plans is limited. In
February 2013, Ontario approved Kuvan for public funding, and
Saskatchewan followed Ontario's lead in September 2013. The Quebec
government also funds Kuvan on a case-by-case basis for women with PKU
in the province who are pregnant or plan to become pregnantiv. With no funding for Kuvan to date in B.C., Alberta, Manitoba, New
Brunswick, Newfoundland, Nova Scotia or P.E.I., the final prong of the
recommended treatment regime for PKU is out of reach for most patients
in Canada, exposing them to potential neurocognitive, psychiatric and
physical symptoms caused by the disease.
"We encourage all provincial governments to take note of how other
provinces and jurisdictions have accepted the expert guidance offered
by Dr. Vockley and his international colleagues, so that patients can
access important medications - like Kuvan - which can improve their
health outcomes and quality of life," says John Adams, President of
CanPKU. "We are grateful to Dr. Vockley for sharing his expertise in
PKU treatment, as well as his passion and commitment to improving the
lives of children and adults living with PKU and other metabolic
Outside of Canada, Kuvan is publicly funded and accessible to the vast
majority of patients with PKU around the world in countries such as
Germany, France, Italy, Spain, Greece, Netherlands, Austria, Norway,
Slovakia, Denmark, Belgium,v the United States, Japan and Switzerland.
About Canadian PKU and Allied Disorders Inc.
Canadian PKU and Allied Disorders Inc. is a non‐profit association of
volunteers, dedicated to providing accurate news, information and
support to families and professionals dealing with PKU and similar,
rare, inherited metabolic disorders. Our mission is to improve the
lives of people with PKU and allied disorders and the lives of their
families. By allied disorders we mean other rare, inherited metabolic
disorders also detected by newborn screening. For more information,
visit www.canpku.org and download our comprehensive resource for patients and families, PKU and the Brain.
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i Canadian PKU and Allied Disorders Inc. Coverage for PKU Diet Formulas &
Medical Foods - May 2012. Accessed on January 29, 2013. Available at: http://www.canpku.org/images/pdf/coverage-pku-2012.pdf
ii Singh RH, Quirk ME. Using change in plasma phenylalanine concentrations
and ability to liberalize diet to classify responsiveness to
tetrahydrobiopterin therapy in patients..., Mol. Genet. Metab. (2011),
iii Kuvan [product monograph]. Toronto, ON: BioMarin Pharmaceutical
(Canada) Inc.; 2010.
iv Ajout aux listes de médicaments - Médicament d'exception [KUVAN].
INESSS. Available at : http://www.inesss.qc.ca/index.php. Accessed on February 16, 2012.
v Kuvan in Europe. The European Society for Phenylketonuria and Allied
Disorders Treated as Phenylketonuria. Accessed on December 8, 2011.
Available at: http://www.espku.org/en/component/content/article/48-kuvan-in-europe.html
SOURCE: Canadian PKU and Allied Disorders Inc.
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