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
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
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
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 www.pompecanada.com
SOURCE: Canadian Association of Pompe (CAP)
For further information:
Brad Crittenden, President, Canadian Association of Pompe
Durhane Wong-Rieger, President, Canadian Organization for Rare Diseases