B.C. Government denies patients with rare, brain-threatening disorder funding for only drug therapy, medical foods

News provided by

Canadian PKU and Allied Disorders Inc.

Oct 25, 2012, 11:15 ET

- Ministry of Health ignores treatment recommendations by leading PKU experts -

VANCOUVER, BC, Oct. 25, 2012 /CNW/ - The Canadian PKU and Allied Disorders non-profit family association (CanPKU) is extremely discouraged by the B.C. Ministry of Health's recent decision to deny patients in the province publicly-funded access to the first and only pharmaceutical treatment for phenylketonuria (PKU), a rare, brain-threatening metabolic disorder. This refusal to provide access to Kuvan contradicts recommendations found in the recent publication of peer-reviewed guidance for its use in the management of PKU.¹ In B.C., approximately 150 patients are living with PKU, and among them 20 to 56 per cent could respond to the treatment.²

"It is completely unacceptable that the B.C. Ministry of Health is denying patients the first new, effective and safe treatment option for PKU in over 60 years - a critical tool to help protect the brains of patients from birth through adulthood," says John Adams, President and CEO of Canadian PKU and Allied Disorders Inc., who has a son with PKU. "This province has not just refused PKU patients' right to improved learning, behavioural and health outcomes, it has turned its back completely on a small group of its most vulnerable constituents. We are encouraged that discussions with other provinces on coverage are progressing."

Brains at risk without treatment tools

PKU occurs when the body is unable to process phenylalanine, or "Phe", an essential amino acid found in the protein in most foods. ³ If left untreated, symptoms of PKU can range from mild cognitive impairment to severe mental retardation. ⁴ It has been the policy of B.C. governments since 1964 to test every newborn baby for PKU. ⁵ The current standard treatment for PKU, which involves a lifelong adherence to a severely restrictive low-Phe diet reliant on synthetic formulas and medical foods, ⁶ can lead to negative health impacts including nutritional deficiencies, weight issues and bone disease. ⁷

Despite patients' best efforts in dietary planning, adherence to the low-Phe diet and frequent blood monitoring, many are still unable to adequately control their blood Phe levels, leaving their brains at risk for neurocognitive impairment with psychosocial impacts. ⁸ Kuvan is the first and only drug therapy proven to reduce blood Phe levels in patients with PKU, when taken in conjunction with a Phe-restricted diet. ² Medically necessary tools such as low protein foods are also important for diet adherence and control of blood Phe levels.

"We were shocked and disheartened to learn that not only did the B.C. Ministry of Health decline to fund Kuvan for PKU, they have also refused to fund the medical foods that are a key tool to help patients manage their blood Phe levels," says Nicole Pallone, of Sparwood, B.C., whose 4-year old daughter Rosie has PKU. "As a result, B.C. provides the least amount of coverage for medical foods for PKU in all of Canada. This double no from B.C. Health is a slap in the face to every PKU patient and family in the province."

Expert guidance overlooked

"PKU is a chronic condition typically diagnosed at birth, and therefore, affected patients need lifelong support from our health care system that includes access to improved treatment options," says Dr. Sylvia Stockler, biochemical disease specialist at the B.C. Children's Hospital. "The immense benefits of treatments that aim to control PKU patients' blood Phe levels should be recognized by our elected decision makers."

Published in the July 2012 issue of Molecular Genetics and Metabolism, the authoritative peer-reviewed journal of the Society for Inherited Metabolic Disorders, a group of leading PKU experts provide guidance on a uniform and practical approach to the use of Kuvan in treating PKU in conjunction with diet. Their recommendations include direction on patient selection, determination of response and the long-term management of patients on Kuvan therapy. ¹

"Evidence-based research, as well as expert clinical consensus, supports the medical necessity for access to all effective treatment tools in order to provide optimal management of PKU," says Amy Cunningham, lead author of the Kuvan treatment guidelines, a metabolic nutritionist at the Tulane Hayward Genetics Centre in New Orleans, Louisiana, and past president of the Genetic Metabolic Dieticians International. "When access to best care is denied, our patients suffer."

Best financial terms offered

In B.C., Kuvan is already funded for two purposes: to treat a related condition - BH4 deficiency (originally called malignant PKU) - and as a diagnostic tool to determine whether newborns with high Phe levels have PKU or BH4 deficiency. However, patients with PKU can only access funding for Kuvan through private drug coverage, if available to them. Canada lags behind many developed nations, such as Germany, France, Italy, Japan, Denmark and the United States, all of which make the treatment accessible to eligible citizens through public funding. ⁹

Since Health Canada approved Kuvan in 2010, CanPKU has been calling upon provincial and territorial governments to fund Kuvan for the 20 to 56 per cent of PKU patients who respond to it.² There has been no decisive action taken, except in B.C. where the government recently walked away from funding negotiations with the drug company after spending more than 18 months reviewing the portfolio and leading CanPKU representatives to believe that progress towards coverage was being made.

"We urge the B.C. Ministry of Health to go back to discussions with the manufacturer of Kuvan and accept what was offered - the best financial terms available to public payers for this treatment," says Adams. "There is no reason for further delay in this or any province. Immediate public funding for all PKU treatments - including Kuvan and medical foods, for children and adults - must be provided to help protect patients from this brain-threatening disease."

"Canadians living with PKU and their medical specialists deserve access to all the tools in the treatment toolbox."

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 our new comprehensive resource for patients and families, PKU and the Brain.

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References:
¹ Cunningham A. et al. Recommendations for the use of sapropterin in phenylketonuria. Mol. Genet Metab. 2012; 106: 269-276. ² Kuvan [product monograph]. Toronto, ON: BioMarin Pharmaceutical (Canada) Inc.; 2010. ³ PKU and the Brain. Canadian PKU and Allied Disorders Inc. 2010. Available at http://canpku.org/images/pdf/pku-and-the-brain_canpku.pdf Accessed July 4, 2012. ⁴ Martynyuk A et al., Epilepsy in Phenylketonuria: A Complex Dependence on Serum Phenylalanine Levels. Epilepsia. 2007, 48(6):1143-50 ⁵ Therrell BL, Adams J. Status of Newborn Screening in North America, Journal of Inherited Metabolic Diseases. 2007;30:447-465. ⁶ MacDonald A, et al., Nutrition in phenylketonuria, Mol. Genet. Metab. (2011), doi:10.1016/j.ymgme.2011.08.023 ⁷ Enns G, Koch R, Brumm V et al. Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence. Mol. Genet Metab. 2010; 101: 99-109 ⁸ Brumm VL, Bilder D, Waisbren SE. Psychiatric symptoms and disorders in phenylketonuria. Mol Genet Metab. 2010; 99:S59-S63 ⁹ 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