Finding solutions for Canadians living with rare disorders

• Nearly three million adults and children are affected by rare diseases in Canada¹

MONTREAL, Feb. 28, 2014 /CNW Telbec/ - Today marks Rare Disease Day, the annual international event to raise awareness of rare diseases and their impact on peoples' lives. Novartis Pharmaceuticals Canada Inc. (Novartis) would like to take this opportunity to acknowledge the approximately one in 12 Canadians² living with a rare disorder and to confirm its commitment to research and treatment development for rare diseases.

"On this Rare Disease Day 2014, we are reminded that in our work, the size of the patient population should not drive our research decisions. I'm proud that at Novartis, we follow the science and allocate resources based on the degree of unmet patient need," said Dr. Riad Sherif, President, Novartis Canada.

Rare Diseases: Three Million Children and Adults Affected in Canada

Nearly three million Canadians have a rare or "orphan" disease³, a term which indicates a condition affecting less than one in 2,000 people⁴. Challenges in the fight against such rare disorders include the lack of scientific knowledge and quality information on the disease that result in a delay in diagnosis, and the consequent need for appropriate quality healthcare⁵. In addition, due to the broad diversity of such disorders and the tendency for rare conditions to hide behind relatively common symptoms, initial misdiagnosis is common⁶.

Rare disorders have two important things in common: most people have never heard of them, and most doctors don't have experience with them. The vast majority of rare diseases still lack effective treatment options, and these disorders, along with the relatively small group of patients they affect, do not get the attention they deserve. 

Andrew Keats's son Desmond, aged four, developed Systemic Juvenile Idiopathic Arthritis (SJIA), a rare and disabling form of childhood arthritis. "Treatments for rare disorders can change lives, and the life-changing effect of such a treatment can make a difference," says Mr. Keats, who underlines how important it is that treatments for rare disorders remain available to those who need them most.

Novartis: Developing Treatments to Rare Diseases

From pioneering medicines used by patients worldwide to treat rare forms of cancer to potential medical advancements now undergoing clinical testing, Novartis has a pipeline that includes treatments for rare diseases. With more than a dozen Novartis medicines currently on the market designated for the treatment of orphan diseases, Novartis prides itself as a partner that addresses needs in the development of medicines for rare diseases^{10, 11}. Two treatments have recently received approval from Health Canada in this area:

Ilaris® is approved for the treatment of Systemic Juvenile Idiopathic Arthritis (SJIA), a rare and disabling form of childhood arthritis with limited treatment options¹⁰. Spiking fever, skin rash, pain and swelling of the joints and inflammation of internal organs such as heart, liver, spleen and lymph nodes are some of the symptoms that children with SJIA can face daily⁸. Ilaris® received Health Canada approval for SJIA in December of 2013⁹. Ilaris® is also approved for Cyropyrin Associated Periodic Syndromes (CAPS), another rare, lifelong, genetic disorder with debilitating symptoms, ¹⁰.

Signifor® is a treatment for a rare and debilitating endocrine disorder, Cushing's disease, caused by a benign pituitary tumour^11,12. Symptoms can include severe illnesses, unexplained weight gain, osteoporosis, cardiovascular disease and increased mortality¹³. Prior to the approval of Signifor® in September of 2013, no medical treatments addressing the underlying cause of this disease were approved in Canada.

About Novartis
Novartis Pharmaceuticals Canada Inc., a leader in the healthcare field, is committed to the discovery, development and marketing of innovative products to improve the well-being of all Canadians. In 2012, the company invested close to $100 million in research and development in Canada. Novartis Pharmaceuticals Canada Inc. employs more than 600 people in Canada. For further information, please consult www.novartis.ca.

Novartis Pharmaceuticals Canada Inc. is a subsidiary of Novartis AG, which provides innovative healthcare solutions that address the evolving needs of patients and societies. Headquartered in Basel, Switzerland, Novartis offers a diversified portfolio to best meet these needs: innovative medicines, eye care, cost-saving generic pharmaceuticals, preventive vaccines and diagnostic tools, over-the-counter and animal health products. Novartis is the only global company with leading positions in these areas. In 2012, the Group achieved net sales of USD 56.7 billion, while R&D throughout the Group amounted to approximately USD 9.3 billion (USD 9.1 billion excluding impairment and amortization charges). Novartis Group companies employ approximately 133,000 full-time equivalent associates and operate in more than 140 countries around the world. For more information, please visit http://www.novartis.com.

® Ilaris and Signifor are registered trademarks.

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References: 

^1	Rare Disease Foundation http://www.rarediseasefoundation.org/about Accessed February 24, 2014.
^2	Canadian Association of Rare Disorders http://www.raredisorders.ca/aboutUs.html, Accessed February 24, 2014.
^3	Rare Disease Foundation http://www.rarediseasefoundation.org/about Accessed February 24, 2014
^4	Rare Disease Foundation http://www.rarediseasefoundation.org/about Accessed February 24, 2014.
^5	Canadian Association of Rare Disorders http://www.raredisorders.ca/aboutUs.html, Accessed February 24, 2014.
^6	Rare Disease Day http://www.rarediseaseday.org/article/what-is-a-rare-disease, Accessed February 24, 2014.
^7	Novartis Pharmaceuticals Canada Inc.http://www.novartis.com/newsroom/feature-stories/2012/02/novartis-works-for-patients-with-rare-diseases.shtml, Accessed February 24, 2014.
^8	De Benedetti, F, Schneider R. Systemic juvenile idiopathic arthritis. In: Cassidy JT, Laxer RM, Petty RE, Lindsley CB, eds. Textbook of Pediatric Rheumatology. 6th ed. Philadelphia, PA: Saunders Elsevier; 2011; 236-47
^9	CNW Canada News Wire http://www.newswire.ca/en/story/1280977/novartis-pharmaceuticals-canada-inc-receives-health-canada-approval-for-ilaris-in-active-systemic-juvenile-idiopathic-arthritis-a-serious-form-of-rare, Accessed February 24, 2014.
^10	Ilaris® Product Monograph. Novartis Pharmaceuticals Canada Inc. December 2013
^11	Signifor® Product Monograph. Novartis Pharmaceuticals Canada Inc. September 2013
^12	National Endocrine and Metabolic Diseases Information Service. US National Institutes of Health. Cushing's Syndrome www.endocrine.niddk.nih.gov/pubs/cushings/cushings.aspx Accessed February 25, 2014.
^13	Colao, A. A 12-Month Phase III Study of Pasireotide in Cushing's Disease. New Engl J Med. 2012; 366(10):914-924

 

SOURCE: Novartis Pharmaceuticals Canada Inc.

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