Canada Trails Internationally in Terms of Rare Disease Sufferers Access to Orphan Drugs

TORONTO, June 6, 2013 /CNW/ - This weekend, Canadians with Pompe Disease and their caregivers will gather in Toronto for their annual conference to share experiences and hear about new developments aimed at addressing Pompe Disease as well as Orphan Drug accessibility in Canada. Orphan drugs are pharmaceuticals that have been developed specifically to treat very rare medical conditions like Pompe disease. These diseases are often referred to as orphan diseases.

Conference keynote speaker, Durhane Wong-Rieger, President of the Canadian Organization for Rare Diseases (CORD), says access to orphan drugs has been more challenging for Canadians than patients in most other developed countries "We are very hopeful that this situation will improve very soon as consultations are now underway with Health Canada to develop a framework for Orphan Drugs in Canada.  The goal, as stated by the Health Minister, is to improve patient access to orphan drugs.  Unfortunately, a federal framework will not assure equal access across all provinces."

Canadian Association of Pompe President, Brad Crittenden, says that while the conference is an opportunity to share experiences and emerging issues related to Pompe, it's also about the bigger issues relevant to all rare or orphan disease patients: " While the majority of Pompe patients in Canada now benefit from the enzyme replacement therapy designed to slow or even halt the disease's progression, there are still a few remaining patients who do not as not all provinces are dealing with the issue of rare diseases. We continue to advocate on their behalf. As well, Canada still falls behind other nations in terms of inclusivity of rare disease patients in its healthcare system. That needs to be remedied."

While it is estimated that there are approximately 6,000 to 8,000 rare diseases globally, today, treatments exist for only approximately 200 of these. However, that's expected to change dramatically in the next decade with the projected approval of approximately 200 new therapies. Asks Wong-Rieger: "How will we review all of these new therapies? How will we reimburse them? And most importantly, how will we ensure that there is a level playing field in terms of access to new therapies across Canada."

Wong-Rieger noted that Canada is in catch-up mode.  The US introduced the Orphan Drug Act in 1983 and the EU in 2000 to support development of treatments for "rare and neglected diseases", as did Japan, Australia and other countries.  "We hope the Canadian Orphan Drug regulations will be introduced in Parliament this fall.  But while these regulations will support development and licensing of drugs, we still have another big hurdle, and that is coverage by the provincial and other drug plans.  Some provinces have rare disease drug programs, but others do not.  What we are fighting for is equal and appropriate access for all patients, regardless of where they live."

The CORD President said that the primary purpose of her presentation at the CAP conference in Toronto this weekend is to offer some answers to the challenges facing Canadian suffering from rare diseases who find themselves without any resources or avenues when seeking treatment.

The conference will also include a presentation by Dr Mark Tarnopolsky, Department of Pediatrics, McMaster University who will highlight various aspects of and research results related to Pompe Disease.

About Pompe Disease

Pompe disease is an extremely rare disease (estimated at 1 in every 40,000 births) inherited and often fatal disorder that disables the heart and muscles.  It is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA).  In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme.  Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected.

About the Canadian Association of Pompe (CAP) 

The Canadian Association of Pompe was established to help persons in Canada, and elsewhere, become familiar with Pompe disease, and to support persons with Pompe disease. The CAP Conference will be held at the Toronto Airport Marriott Hotel on June 8th and 9th.

For more information please visit

SOURCE: Canadian Association of Pompe (CAP)

For further information:

Brad Crittenden, President, Canadian Association of Pompe
Tel: 250-488-2571

Durhane Wong-Rieger, President, Canadian Organization for Rare Diseases
Tel:  647-801-5176

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Canadian Association of Pompe (CAP)

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