The Canadian MPS Society applauds approval of first treatment for progressive, ultra-rare genetic disease

- MPS IV A patients and families urge swift, publicly funded access to life-altering drug VIMIZIM™ -

VANCOUVER, July 7, 2014 /CNW/ - The Canadian Society for Mucopolysaccharide & Related Diseases Inc. (Canadian MPS Society) is thrilled by Health Canada's recent approval of VIMIZIM™ (elosulfase alfa), the first and only pharmaceutical treatment option available for long-term enzyme replacement therapy in patients with a confirmed diagnosis of Mucopolysaccharidosis IVA (MPS IV A), also known as Morquio A syndrome.

MPS IV A is an ultra-rare, severely debilitating and progressive disease that substantially limits both the quality and length of life for those affected by it.¹ Individuals born with MPS IV A have deficient activity of an enzyme (N-acetylgalactosamine-6-sulfatase, or GALNS) that is essential to the breakdown and removal of specific sugar molecule chains called glycosaminoglycans, or GAGs.^2,3 The incompletely broken down GAGs build up in the cells of the body and cause progressive tissue and organ damage, including to the heart, bones, joints, respiratory system,¹ and central nervous system.^4,5

Affecting between 50 and 100 patients in Canada,⁶ symptoms of MPS IV A include: abnormal development of bones, including the spine, rib cage, knees and hips; joint laxity; and short stature, with a particularly short neck and trunk.⁷ Complications of MPS IV A include: significant breathing problems; heart failure; spinal cord damage and possible paralysis; vision and hearing problems; walking problems related to abnormal curvature of the spine and deformities in the knees and hips; other bone problems; and reduced life expectancy.⁵

Until recently, only supportive care that treats the symptoms of the disease was available to MPS IV A patients, including: medication, multiple surgeries, and ongoing occupational and physical therapy.^1,2 With the approval of VIMIZIM, MPS IV A patients and their families finally have a reason for hope.

Providing hope for a bright future
Verica Gacic's son, Stefan, was only two years old when she noticed his back was beginning to curve, his chest was larger and his walking was different from other children his age. He also began to have frequent ear infections. After more than six months of extensive testing, Stefan was diagnosed with MPS IV A. Although the disease progressed slowly, Stefan's health began to decline at age 10. His knees began to bow in, he lost nearly all hearing in one ear, his breathing became laboured and he underwent spinal surgery to reinforce the vertebrae in his neck. Fortunately, the next year, Stefan was enrolled and began the clinical trial for VIMIZIM. Now 14 years old, Verica has noted significant improvements in her son's mobility and endurance, and expresses hope for his ability to live a full and normal life.

"I am so thankful that Stefan participated in the clinical trial. Before the VIMIZIM infusions, his mobility was declining – he couldn't walk up the front step of our house and his breath came in gasps," said Verica of London, Ontario. "Now, his energy has increased, he can walk up a flight of stairs, breaths easier, doesn't get sick as often and his joints aren't in constant pain. Stefan is starting high school in September, has fun with his friends and participates in sports. My son now has the opportunity to finish school, go to work and be part of society – to have a normal life and future."

A life-altering treatment advance for MPS IV A patients
VIMIZIM is the first and only pharmaceutical treatment option designed to target the underlying cause of MPS IV A and slow its progression. An enzyme replacement therapy, VIMIZIM replaces deficient GALNS activity to decrease the accumulation of the disease in multiple organs.⁸

"Morquio A is an ultra-rare disease for which there is no cure, so the development of new treatment options is critical," said Dr. Julian Raiman, a leading pediatric metabolic geneticist based in Toronto, and member of the Canadian MPS Society Medical Advisory Board. "VIMIZIM has been shown to offer benefit to patients with Morquio A, such as improvements in endurance, which can be attributed to better respiratory, musculoskeletal, and cardiac function."

Unfortunately, VIMIZIM is not yet accessible to Canadians who depend on public funding; only those who were part of the clinical trial that led to its approval in Canada or have private drug coverage that covers it have the opportunity to access this life-altering treatment.

Immediate and sustained access to treatment urgently needed
Now that VIMIZIM is approved in Canada, the MPS IV A community urges all provincial and territorial governments to make an expedited decision to provide Canadians living with this debilitating disease immediate access to this life-altering treatment through public funding. 

"While it is encouraging that Canada is getting closer to having a national strategy for rare diseases, the lives of children and adults with MPS IV A can't wait for provincial and territorial governments to provide publicly-funded access to this life-changing treatment," says Kirsten Harkins, Executive Director of the Canadian MPS Society. "Canadians affected by this debilitating disease have waited long enough. In fact, the longer they wait, the more their disease progresses. They deserve a chance to fight this progressive disease and to enjoy the best possible quality of life. They need access now."

About the Canadian MPS Society
Founded in 1984, The Canadian Society for Mucopolysaccharide & Related Diseases Inc. (Canadian MPS Society) is committed to providing support to individuals and families affected with MPS and related diseases, educating medical professionals and the general public about MPS, and raising funds for research so that, one day, there will be cures for all types of MPS and related diseases. For more information, please visit www.mpssociety.ca.

References

¹ Medline Plus. U.S. National Library of Medicine – National Institutes of Health. Morquio syndrome. Available at: www.nlm.nih.gov/medlineplus/ency/article/001206.htm. Accessed on February 26, 2014.
² The Canadian Society for Mucoploysaccaride & Related Diseases Inc. A Guide to Understanding Mucopolysaccharidosis (MPS) IV.
³ Mayo Medical Laboratories. Mucopolysaccharides (MPS) Screen, Urine. Available at: www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/84464. Accessed on February 26, 2014.
⁴ Borlot et al. Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement. American Journal of Medical Genetics Part A. Available at: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36424/abstract. Access on February 26, 2014.
⁵ Regier, Debra S et al. Mucopolysaccharidosis Type IVA. Available at: www.ncbi.nlm.nih.gov/books/NBK148668/. Accessed on February 26, 2014.
⁶ Industry estimate
⁷ Medline Plus. U.S. National Library of Medicine – National Institutes of Health. Morquio syndrome. Available at: www.nlm.nih.gov/medlineplus/ency/article/001206.htm. Accessed on February 26, 2014.
⁸ VIMIZIM Product Monograph

SOURCE: The Canadian MPS Society

Jennifer Dolan, Cohn & Wolfe, 416-924-5700 ext. 4059, [email protected]