Morquio A Syndrome is a rare and debilitating genetic disorder. It is a form of Mucopolysaccharidosis (MPS IVA) and is characterized by significant bone and joint disease, as well as numerous other symptoms throughout the body.
Patients suffering from Morquio A Syndrome lack an enzyme in their blood that breaks down cellular waste in the body. This waste builds up and stores in the bones, tissues, organs, and muscles, and leads to some of the symptoms described below.
Morquio A Syndrome is an inherited genetic disorder caused by a deficiency of an enzyme called N-acetylgalactosamine-6 sulfatase, or GALNS. Deficiency of this enzyme causes cellular waste to build up in the body and progressively store in the bones, tissues, organs, and muscles. Morquio A Syndrome is estimated to occur in 1 in 200,00 to 300,000 live births, with 90-100 estimated cases in Canada.
Genetic Condition Caused By Enzyme Deficiency
Missing or deficient enzyme (GALNS) causes cellular waste from the cells to store in the bones, tissues, organs, and muscles. This disease is characterized as a lysosomal storage disorder.
Lysosomal Storage Leads To Progressive Symptoms
Virtually all bones, muscles, organs, and tissues in the body are affected by GALNS deficiency, leading to progressive, multi-systemic and debilitating symptoms.
First Ever Treatment Now Available
The FDA, the European Commission, and Health Canada have all approved the first ever treatment for Morquio A Syndrome. Developed by Biomarin Pharmaceuticals, this enzyme replacement therapy (ERT) delivers a synthetic version of the GALNS enzyme into the bloodstream.
There are many symptoms and associated consequences for patients suffering from Morquio A Syndrome. Until recently, management of symptoms was the only course of care for patients. In 2014, the first ever treatment for Morquio A was approved by the FDA, the European Commission, and Health Canada. More information on this new treatment can be found in our TREATMENT section.
Heart and Airway Disease
People suffering from Morquio A Syndrome can develop respiratory failure, severe sleep apnea, and upper airway collapse. Affected individuals may also develop numerous and recurrent respiratory infections and a thickening of the heart valves.
Skeletal Symptoms
People with Morquio A Syndrome may have a wide range of skeletal symptoms. These can include shortened stature, spinal cord compression, bone deformities, chest protrusion, kyphosis, and scoliosis.
Hearing Loss
Usually common in the second decade of life, hearing loss can be progressive and severe.
Eye and Vision Issues
Some people with Morquio A Syndrome may develop severe corneal clouding and a debilitating decease in vision.
Frequent Hospital Visits
People with Morquio A Syndrome have frequent hospital stays for surgical procedures and to manage the symptoms of the disease.
Specialist Care
Patients battling Morquio A Syndrome often visit numerous specialists to help manage their disease. These can include, but aren’t limited to, MPS Genetics Specialists, Neurologists, Ophthalmologists, Orthopaedic Specialists, Cardiologists, ENTs, Pulmonologists, and Rheumatologists.
Surgical Interventions
In almost all cases of Morquio A Syndrome, patients need multiple surgical procedures. These may include skeletal corrections, corneal transplants, heart valve replacements, spinal cord decompression, and other procedures.
Decreased Endurance
Studies have shown that endurance of affected individuals is impacted greatly due to the progression of the disease. Endurance has an impact on all facets of life. Recent clinical trials have shown a significant increase in endurance for all patients receiving enzyme replacement therapy.
New Hope for Morquio A Patients and Their Families
In 2014, the first ever treatment for Morquio A Syndrome was approved in the US, European Union, and Canada. Vimizim, created by Biomarin Pharmaceuticals, is a synthetic version of the GALNS enzyme that patients are lacking in their blood. This enzyme replacement therapy (ERT) was fast-tracked through the approval process in both the US and Canada because of the tremendous unmet need the treatment provided patients.
Clinical trial results were very promising, with patients seeing a sizeable increase in endurance, an excellent indicator for how well the treatment works. Endurance measures how well a patient’s body is performing. From heart to bones to pulmonary function, increased endurance indicates that those systems are working better.
" This has given our family the chance to think a little further into the boys’ future and to dream again of all the things they will be able to do and accomplish. It’s given us back the hope that was taken from us so long ago when we were diagnosed! "
Debbie Braun – Mother of 2 children with Morquio A Syndrome - Ontario, Canada
Reimbursement for Rare Diseases in Canada – A Long and Arduous Process
From an access standpoint, there is no reason for delay, and no reason why patients who need access can’t receive it soon after regulatory approval from Health Canada. Patients suffering from these rare and progressive diseases don’t have the luxury of time on their side, and the current process is long and arduous. Andrew McFadyen, Executive Director, The Isaac Foundation
Unfortunately, any approval by Health Canada for treatments for a Rare Disease doesn’t mean that patients can begin receiving therapy immediately. Canada’s lack of an Orphan Drug Plan, coupled with a very illogical approval process that differs in individual provinces, often leaves patients lacking the treatment they desperately need. The reason? While Health Canada may approve a treatment for use, it’s still up to individual provinces to decide whether they will pay for the treatment or not. This leaves Canadians with inequitable access to our health care system, with some patients receiving treatment for their conditions based solely on what part of the country they happen to live in.
Physicians with patients suffering from a rare disease need to fill out a request for reimbursement application and submit it to the provincial Ministry of Health. From there, the application is reviewed and a decision to cover the cost of treatment is either approved or, in most cases, denied. Most reasons governments provide for denial are due to a lack of evidence of the benefits these treatments provide patients, even when significant data exists to show such benefits exist. The true reason these therapies are denied is cost – provinces feel the cost to treat individuals is a burden on their health care budgets.
More often than not, patients and their families are forced to advocate and lobby provincial governments to cover the cost of the treatments they need. Grassroots social media campaigns, press releases, and demonstrations are all common mechanisms that people use during their lobbying efforts. Sometimes they are successful, oftentimes they are not, and many patients needing therapy go untreated. In Canada, organizations like The Isaac Foundation and RQMO work with families and governments to help ensure patients needing treatment for rare diseases gain access in a timely and equitable manner.
Beaurocratic Path to Reimbursement – Information and Estimated Timelines
7
Months to Review and Receive Approval from Health Canada (Approval: July, 2014)
8
Months Estimated to Complete COMMON DRUG REVIEW process (Application Submitted: August, 2014)
12
Months Estimated to Negotiate Reimbursement Cost through the Pan-Canadian Pricing Alliance (Submission after CDR is completed)
Beaurocratic Path to Reimbursement Could Take 20 Months or More
Health Canada Approval Announcement
Common Drug Review Information and Website
Pan-Canadian Pricing Alliance Website
STEP 1 - Approval By Health Canada
Biomarin submits VIMIZIM to Health Canada for review and approval for use in Canada. The review was considered a “priority” review because of the potential impact the therapy could have on patients. Submission took place in December of 2013, and approved by Health Canada in July of 2014.
STEP 2 - Submission and Review to the Common Drug Review (CDR)
The Common Drug Review is a “process for conducting objective, rigorous reviews of the clinical, cost-effectiveness, and patient evidence for drugs.” The CDR completes their review and recommends to provinces whether a drug should be reimbursed or not.
STEP 3 - Negotiations Begin With the Pan-Canadian Pricing Alliance (PCAP)
The Pan-Canadian Pricing Alliance works to capitalize “on the combined ‘buying power’ of drug plans across multiple provinces and territories” to bring the cost of expensive treatments down.
If you would like assistance obtaining VIMIZIM treatment in Canada, please don’t hesitate to contact us and we will do whatever we can to assist.
We can join you for a meeting with your Member of the Provincial Parliament (MPP) or Member of the Legislature (MLA) and work closely with them to ensure reimbursement for treatment is forthcoming. We can also help you connect with other families undertaking the same processes, connect with the drug company that makes VIMIZIM (Biomarin Pharmaceuticals) on your behalf, and come meet with you in your home province to help support you in any way necessary.
Whatever we can do to help, we’ll be here.
If you would rather connect with us via social media, please find us on the links below:
Three children all suffer from genetic enzyme deficiency that could lead to early death CBC News Posted: Sep 15, 2015 5:30 AM CT Last Updated: Sep 15, 2015 6:43 AM CT A family in Saskatoon is waiting and hoping for the solution to a triple heartbreak. Three of the five children suffer from a crippling genetic disease that could kill
Children Diagnosed With Ultra-Rare Condition; Treatment Already Being Funded In Ontario and Quebec (Sept. 14, 2015) The Saskatchewan Ministry of Health is currently considering an application for exceptional funding of a life-sustaining treatment required by three siblings from Saskatoon. 8 year-old Sara Amir, along with her siblings Khadija, 10 and Muhammad, 12 have been diagnosed with Morquio Syndrome, and all
September 14, 2015 A special news report on a family from Saskatchewan battling to save the lives of their three children, all suffering from Morquio A Syndrome.
Families and advocacy groups through the country are doing an incredible job raising awareness of Morquio A Syndrome. We'll post newspaper reports, television, and radio appearances here as quickly as they come in. If you have a news item to share, please send it along for inclusion on this page!
CTV NEWS SASKATOON – PROVINCE ASKED TO FUND TREATMENT
Television
New therapy helps London teen with ‘ultra-rare’ disorder
Web/Mobile
Drug brings hope for teen battling rare disorder
Television, Web/Mobile
A London boy’s fight with rare disease
Newspaper, Web/Mobile
Hold on to your dreams – Adult living with Morquio meets Cornwall-area child
Newspaper, Web/Mobile
RQMO applauds Health Canada’s approval of first treatment for Morquio A syndrome
Web/Mobile
Barb Larson on AM630 CHED’s “Tencer and Grose”
Radio
Health Canada Approves Vimizim to Treat Rare Disease
Newspaper, Web/Mobile
Morquio Family Tree fundraising for rare disease
Newspaper, Web/Mobile
CONTACT US AND SHARE YOUR STORY!
We want to hear from you! Send us your story so we can share it with the world. Every person and family battling Morquio A Syndrome has a unique story to tell - one of bravery, resilience, and perseverance. We'll share all stories online here and on our social media feeds!
