International metabolic geneticist brings first-ever PKU treatment guidelines to Canada

- Leading PKU expert Dr. Jerry Vockley calls for comprehensive access to all treatment options for patients with rare and brain-threatening disorder -

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 outcomes."

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 Canada.

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 pregnant^iv.  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 disorders."

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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References
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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), doi:10.1016/j.ymgme.2011.09.009
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.

Beth Daniher
Cohn & Wolfe
416-924-5700 ext. 4070
[email protected]