What is Morquio A Syndrome?

What is Morquio A Syndrome?

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.



Estimated Morquio A Syndrome Cases in Canada


Canadian Clinical Trial Participants


Weeks Since Life-Sustaining ERT (VIMIZIM) Treatment Approved by Health Canada


Patients Receiving Reimbursed Treatment in Canada  

What Causes Morquio A Syndrome?

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.

Symptoms of Morquio A

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.

Treatment with Vimizim for Morquio A

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.

Jump To Biomarin’s Vimizim Information Page

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


Access to Treatment in 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 


Months to Review and Receive Approval from Health Canada (Approval: July, 2014)


Months Estimated to Complete COMMON DRUG REVIEW process (Application Submitted: August, 2014)


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.  

Support for Accessing Treatment in Canada

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:


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Latest From The Blog…

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Saskatoon family awaits answer on treatment for crippling disease

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

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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

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Canadian Morquio A News

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!



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.

New therapy helps London teen with ‘ultra-rare’ disorder

New therapy helps London teen with ‘ultra-rare’ disorder

New therapy helps London teen with 'ultra-rare' disorderAir Canada Centre, May 8, 2014 – Game four of the first-round playoff tilt between Original Six rivals the Toronto Maple Leafs and the Boston Bruins.

London teen and Leafs super-fan Stefan Gacic was thrilled to be there, in box seats no less, a bonus pick-me-up from Sick Kids Hospital.

For more than two years Gacic and his mom Verica had travelled from London to Toronto every week to take part in a clinical trial for a new treatment for an “ultra-rare” genetic disease — only about 50-100 Canadians are afflicted — with no cure.

So after all that Stefan finally gets to the arena and what do the boys in blue do? “They choked” in overtime, he recalls wryly.

It was frustrating, but a Stanley Cup for Toronto isn’t the only thing the Gacics are waiting for. Like the other 20 or so Ontarians afflicted with Morquio A syndrome, one of several types of the debilitating and progressive disease called Mucopolysaccharidosis, they’re waiting for a cure.

Stefan is missing an enzyme that breaks up a certain type of protein that accumulates in every cell in his body like plaque, impairing growth and organ function and ultimately causing death. In his case, his spine started to curve by age two but more noticeable signs like laboured breathing and an enlarged chest didn’t present until he was about seven.

By age nine, he couldn’t play soccer anymore and needed help walking. Ear and throat infections became the norm but luckily he met the criteria for the clinical trial.

Now preparing to start Grade 9 at Laurier Secondary School with hopes of working somewhere in the sports industry when he grows up, Stefan has seen the enzyme treatment slow the progression of his Morquio A syndrome.

He’s gone from needing his mom to be within arm’s length to swimming the length of the pool on his own, and still walks on his own where most kids with the disorder are in a wheelchair by the time they’re his age.

His mom credits the treatment, approved on July 7 by Health Canada, but months or years away from being covered by the province, for his improvement.

“The systems in Europe are much faster (to approve new drugs),” she said. “Switzerland, Austria, even Italy fund this therapy but it’s so slow here. These kids, because it’s progressive, they don’t have any time (to wait).”

As a trial participant, Stefan will continue to receive the enzymes for free, but dozens of other families are on tinterhooks as each provincial government has its own debate over whether to fund the therapy, according to Kirsten Harkins of the British Columbia-based Canadian MPS Society.

The cost of Stefan’s treatment hasn’t been hammered out yet, but other enzyme replacement therapies run $150,000 to $300,000 per patient per year or even more depending on how rare the disease is.

Eight patients in Ontario took part in the trial. There were two trials in Quebec; Harkins said a relatively large number of cases occurred in rural areas in that province.

Her own son suffers from MPS I (Stefan has MPS IV-A), one of the handful of MPS types that has been treatable for more than a decade. After 11 years of enzyme replacement therapy, he shows “virtually no” progression and some aspects of the disease have been reversed. In fact he plays on the varsity golf team at his college.

“The coverage depends on where you live so it’s very stressful for the families,” she said. “(The therapies) have been a game-changer, they’ve completely changed the outlook for patients all around the world.”

Started by a mom in Flin Flon, Manitoba, the Canadian MPS Society is celebrating its 30th anniversary this month. They started focusing on research in addition to family support about 10 years ago, and just surpassed $1 million in scientific funding.

“There are several types of MPS but parents can still feel very isolated,” she said. “It’s important to find a cure, but families need help in the meantime.”

London Community News

July 24, 2014
Drug brings hope for teen battling rare disorder

Drug brings hope for teen battling rare disorder

Verica Gacic, sits with her son, 14-year-old Stefan Gacic, who suffers from a rare genetic disorder called Morquio A syndrome, in London, Ont.

Verica Gacic, sits with her son, 14-year-old Stefan Gacic, who suffers from a rare genetic disorder called Morquio A syndrome, in London, Ont.

A new drug is giving new hope to a London teen battling a rare and serious metabolic disorder.

Stefan Gacic is 14 and love sports, “I’m a huge fan of the Leafs and Jays – I like soccer.”

He regularly beats his mom Verica Gacic at ping pong, but outside of sports Stefan faces a very formidable adversary – Morquio A syndrome.

Verica explains “It’s progressive…by the age of six [or] seven he had spine surgery.”

The syndrome is a very rare condition affecting less than 100 Canadians. Typically, it presents a number of health challenges impacting mobility as well as heart and lung function.

Dr. Chitra Prasad, a medical geneticist with Children’s Hospital, explains the illness.

“It’s a genetic disorder causing problems of enzyme deficiency and then affecting the whole body, but the brain is not involved.”

The first symptoms appeared when Stefan was two. At first the disease progressed slowly until the he turned 10, Verica says.

“We had a step in front of the house and he even had a hard time stepping up. So many ear infections, so many chest infections and pain in the joints.”

Stefan was part of a clinical trial for the enzyme-replacement drug vimizim, which – although it’s not a cure – offers hope.

“It’s a very big start because getting into the bone is not easy for any of the enzyme-replacement therapies,” Prasad says.

Stefan will continue to receive the drug as part of the trial, but the family hopes the province will help cover the cost for others.

According to the manufacturer, Biomarin, the price has not yet been set in Canada.

Verica says it’s really made a difference, “Now he’s full of energy again. Again he’s that personality – go, go, go – and now I think we’re back on track.”

Stefan meanwhile is looking forward to going to high school in the fall.

“It’s going to be hard going class to class because of all the floors and all that, but yeah [I’m] excited.”

And Verica is enjoying every milestone, “He just had his [Grade 8] graduation and he walked to the stage to get his diploma – I was so proud of him.”

Jan Sims, CTV London
Published Wednesday, July 23, 2014 3:59PM EDT 

A London boy’s fight with rare disease

A London boy’s fight with rare disease

Stefan Gacic shows the leaps of progress he’s made with Morquio A by displaying his ping-pong skills. JUSTIN FORD/Special to the Londoner

Stefan Gacic shows the leaps of progress he’s made with Morquio A by displaying his ping-pong skills. JUSTIN FORD/Special to the Londoner

Stefan Gacic’s lifelong struggle with an extremely rare genetic disorder has become easier to deal with since being introduced to the treatment of VIMIZIM.

Verica Gacic, Stefan’s mother, noticed something very different with him at the tender age of two. Stefan’s chest was large for his age, he was walking abnormally, and his back was noticeably curved. Ear infections also became the norm, so Verica sought out medical help. Stefan underwent about six months of tests. He was eventually diagnosed with Morquio A syndrome at the age of three.

“They are born with that syndrome,” Verica said. “(But) it doesn’t appear right away. They look normal.”

Morquio A has been diagnosed in roughly 100 Canadians. Stefan is the only person in London who has the rare disease. It’s an inherited disease that interferes with the body’s major organs. Those who have the disease can’t break down glycosaminoglycan molecules because they can’t produce enough enzyme or protein.

The enzyme’s job is to break down and recycle the waste our bodies don’t need. If that doesn’t happen, glycosaminoglycan then builds up in major organs and there lies the breeding ground for several life-threatening problems.

Stefan still had a very normal childhood. He was happy. He played sports. He was — and still is — very humorous. Verica pointed out that he was always very sociable and could make others smile at will.

“He was playing soccer as a child, until seven or eight, when he had spine surgery,” Verica said.

Stefan tolerated the effects of the disease for eight years, but then when he reached age of nine his health started to rapidly decline. It became hard for him to breathe, he was almost rendered completely deaf in his left ear, and he underwent surgery to help stabilize his vertebrae.

“He couldn’t go over one step out front without help,” Verica said.

“I could. I was just tired,” Stefan quickly retorted.

Stefan explained that at his absolute worst he got tried very easily, and constantly ached all over. This went on for a year until the Gacics agreed to a clinical trial for VIMIZIM.

Three years later, Stefan is now 14 and on the upswing. Verica says that her son has an easier time getting around and his stamina has noticeably improved. A situation that what was once a very difficult one doesn’t seem so daunting for the Gacics now.

“I can hang out with my friends the whole day, play soccer with them, and beat them up,” Stefan said jokingly.

Though VIMIZIM has helped the Gacics, it is not a cure. In layman’s terms, it’s a weekly infusion that acts as an enzyme replacement. The enzyme replacement helps break down the waste that the body couldn’t on its own.

“He doesn’t get sick as much,” Verica said. “Before, any cold would turn into some kind of infection. He didn’t get sick at all last year.”

The Gacics told a story about a 14-year-old girl who was wheelchair-bound because of Morquio A. She participated in the trail phase alongside Stefan. At the trials, they had tests to calculate all the kinds of improvements each patient was making. One test in particular was called the “stair test.” This 14-year-old girl could only manage to walk up three steps before VIMIZIM, and today, 60. It’s not a cure, but an extremely successful treatment.

Although VIMIZIM is now out of the trial phase and approved by Health Canada, it’s still not available for those dependent on public funding. It’s only available to those who were involved in the trial phase or have private drug coverage. It is extremely expensive.

“It could take five years until it’s accessible to everyone,” Verica said disappointingly.

VIMIZIM and a combination of hope and perseverance has seemingly performed a small miracle for this family, and they hope other families will experience the same revelation.

“It’s really helped the patients. It’s really benefitting them and we want the government to approve it and start the public funding. It’s given us hope to live a normal life,” Verica pled wishfully.

VIMIZIM represents hope, a hope that should be accessible to everyone as soon as possible.

By Justin Ford, Special to the Londoner

Hold on to your dreams – Adult living with Morquio meets Cornwall-area child

Hold on to your dreams – Adult living with Morquio meets Cornwall-area child

Angelle Bourdon and her daughter Melanie got the rare opportunity to meet another person with Morquio Syndrome earlier this summer, Jaime Adams (right). Adams was born in 1977 and diagnosed before she turned four years old. SUBMITTED PHOTO

Angelle Bourdon and her daughter Melanie got the rare opportunity to meet another person with Morquio Syndrome earlier this summer, Jaime Adams (right). Adams was born in 1977 and diagnosed before she turned four years old.

A small Cornwall girl with a rare disease found a kindred spirit last week.

After a newspaper article ran about a fundraiser for Melanie Bourdon and her cousin Aden Racine who have both been diagnosed with Morquio Syndrome, Jaime Adams contacted this paper and asked to be put in touch with the family. Adams herself was diagnosed with the genetic condition.

In 1980, when Adams was just three, her parents found out something was not right when an optometrist discovered some clouding on her cornea. By the time she turned four, they knew for sure she had Morquio.

Since then she has had a number of surgeries starting at age four and continuing on until she was 20.

“My doctor’s name was Dr. Steven E. Kopits, a pediatrician in Baltimore, Md., at the St. Joseph Hospital who was the expert in the field of Little People,” said Adams. “Morquios from around the world used to go see him. Ethiopia, United Kingdom, United States and Canada. Those were only the ones I knew of. If his patients weren’t able to go see him he would go to them.

“He was the first doctor who would speak directly to me and not to my parents. He cared what I had to say.”

The first time Adams met with another Morquio patient was when she was nine years old.

“There were only about 13 of us in Canada when I was younger,” she said.

Adams said her condition did cause a lot if issues, but she comes from a close-knit family and is very close to her twin sister. Despite having what some would think as a disability, Adams went to St. Lawrence College and worked for a while at Teleperformance, making Cornwall her home for 13 years.

She is currently working on an autobiography of her life growing up with Morquio.

“(It) would go into greater detail of bullying, emotional breakdowns, surgeries, why we took the American route, as well as discriminations,” she said.

She is striving to be as independent as possible, living in an apartment with a dog and a parrot and is starting a new online shopping website She is also in the process of trying to get her driver’s licence.

Meeting with the Bourdon family was a good thing for Adams.

“I was a lot more confident than I usually am,” she said. “I normally clam up.”

As for Angelle Bourdon, Melanie’s mother, she said she found Adams to be inspirational.

“I had the pleasure of meeting a beautiful soul,” Bourdon said in an email. “It saddens me that she grew up in a time when individuals with severe disabilities were discouraged from living their dreams. She gains a part of my heart today and makes me a better advocate.”

Adams said she will continue to stay in touch with the family and said they are now Facebook friends.

If Adams had one message to send out to the world, it would be this: “If you have a dream hold on to it. Don’t let anyone tell you you can’t for you just never know.”

By Lois Ann Baker, Cornwall Standard-Freeholder

RQMO applauds Health Canada’s approval of first treatment for Morquio A syndrome

RQMO applauds Health Canada’s approval of first treatment for Morquio A syndrome

RQMO applauds Health Canada's approval of first treatment for Morquio A syndromeFirst approved treatment for patients and families in Quebec living with ultra-rare, severely debilitating and progressive disease

MONTREALJuly 14, 2014 /CNW Telbec/ – The Regroupement Québécois des maladies orphelines (RQMO; Quebec Coalition of Orphan Diseases) applauds Health Canada’s recent approval of VIMIZIM™ (elosulfase alfa), the first and only pharmaceutical treatment option available for patients living with Morquio A syndrome. Targeting the underlying cause of the disease, VIMIZIM has been shown to slow the progression of Morquio A and significantly improve quality of life. Patients and families of the Morquio community are calling on the Quebec government to provide swift access to VIMIZIM for those who may benefit from it.

Also known as mucopolysaccharidosis IVA (MPS IVA), Morquio A is an ultra-rare, genetic, severely debilitating and progressive disease that substantially limits both the quality and length of life for those affected by it. Symptoms often appear within the first five years of life and include abnormal bone development and short stature. Complications include significant respiratory and heart problems, impaired vision and hearing, and difficulty walking, many patients being wheelchair-bound.

The estimated prevalence is between 50 and 100 patients in Canada, with the highest incidence being found inQuebec, where approximately 30-45 patients are affected.

“The Health Canada approval of Vimizim is very good news for families affected by Morquio A because it is the first and only therapeutic option to treat this progressive and debilitating disease. The estimated forty patients in Quebecshould have access to this treatment, as do other patients living with rare diseases, like Gaucher, Fabry and tyrosinemia. The RQMO and the Quebec Morquio Community ask that the provincial government provide patients with access to Vimizim as quickly as possible. Time is of the essence – the earlier patients start treatment, the greater the impact will be on their health,” says Gail Ouellette, geneticist and General Manager of RQMO.

“The results from the Vimizim clinical trial program are very encouraging for people with Morquio A. It is the only therapy accurately targeting the biological mechanism which causes this disease. Until now, we could only observe the evolving manifestation of the disease and mitigate its effects. Now, we can try to slow the progression of the disease,” says Dr. Bruno Maranda, medical geneticist, Head of the department of Medical Genetics at the CHUS and clinical trial investigator for VIMIZIM. “When one of the children who had been treated told me he was able to get back on its bicycle after a year of treatment, it demonstrated the full impact of this therapy in everyday life.”

Families finally have a reason for hope
Nineteen year old Laurie Patry-Pelletier was diagnosed at the age of six. Two years ago, she was given the opportunity to participate in the Phase 3 clinical trial. “Since I started treatment in 2012, I have noticed a significant improvement in my endurance. I have regained the necessary energy to undertake new projects, such as going back to school and partner with my mother in a family business project,” says Laurie.

“Since Laurie was diagnosed, we have worked tirelessly to help her improve her health and ensure that she has the best possible quality of life. She does special exercises to help strengthen her muscles and follows a healthy diet,” says her mother, Isabelle Patry, who shows Laurie her support and perseverance, helping her to grow and flourish. “Since she started receiving Vimizim, the change has been significant; our lives have completely changed for the better. Laurie now has more independence and is finally able to walk. Without access to treatment, her quality of life would surely crumble.”

Immediate action is required to ensure benefit to patient’s lives
Although Health Canada recently approved VIMIZIM, it is now up to the Quebec government to conduct its individual evaluation and decide whether to provide access to the treatment through public funding. With the support of the RQMO, the Morquio community in Quebec urges the province’s decision-makers to make the right decision and provide access to VIMIZIM.

“‘I’ve been working with families in Quebec living with Morquio A for the last ten years. For them, this first treatment option is a sign of real hope. Some children have even contributed to the development of this medication by participating in the clinical trials in Montreal and Sherbrooke. Some families have two children or adults living with this genetic disease. We need these people to have the fastest possible access to treatment, especially the children in whom the disease hinders normal development and causes disabilities and the need for multiple surgeries,” says Gail Ouellette.

Over the next few weeks, the Quebec Morquio community – including patients, parents, friends and supporters – will mobilize to raise awareness of this ultra-rare disease and the importance of access to treatment for all patients.

About Morquio A Syndrome
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A syndrome, is an ultra-rare genetic disease. People with this disease have a deficient enzyme (N-acetylgalactosamine-6-sulfate, or GALNS) that is essential to the breakdown and removal of chains of sugar molecules called glycosaminoglycans, or GAGs. The excessive storage of these molecules causes skeletal dysplasia, short stature and joint abnormalities which limit mobility and endurance. Malformation of the chest impairs respiratory function, and looseness of joints in the neck cause spinal instability and potentially spinal cord compression. Other symptoms may include hearing loss, corneal clouding and heart disease. Initial symptoms often become evident in the first five years of life. The disease substantially limits both the quality and length of life of those affected.

About RQMO
The Regroupement Québécois des Maladies Orphelines (RQMO) regroups 26 rare disease associations and individuals living with rare diseases, as well as family members and caregivers. RQMO’s mission is to inform and educate while providing support to patients suffering from rare and orphan diseases, as well as their families and health professionals, through a Information and Resource Centre for Rare Diseases ( RQMO also works to advance knowledge and research by facilitating collaboration between patients and researchers.

SOURCE Regroupement québécois des maladies orphelines

 For further information:

Gail Ouellette
General Manager
Regroupement québécois des maladies orphelines

  • July 14, 2014 8:00 AM
Barb Larson on AM630 CHED’s “Tencer and Grose”

Barb Larson on AM630 CHED’s “Tencer and Grose”

Barb Larson discussing VIMIZIM and Morquio A Syndrome on AM630 CHED’s “Tencer and Grose”.

Health Canada Approves Vimizim to Treat Rare Disease

Health Canada Approves Vimizim to Treat Rare Disease

image-14First Ever Treatment For Morquio A Syndrome; Advocacy Group Calls For Expedited Access For Patients Throughout Canada

Sufferers of Morquio A syndrome, or MPS IVA, lack an enzyme in their blood that breaks down cellular waste in the body called glycosaminoglycan (GAG). These GAGs build up in the bones, tissues, organs, and muscles of affected individuals and lead to many devastating symptoms including heart and airway disease, corneal clouding, skeletal abnormalities, decreased endurance, shortened stature, and premature death.CANADA (July 7, 2014) – Health Canada has announced approval of Vimizim, a new enzyme replacement therapy (ERT) to treat Morquio A syndrome, a rare, devastating, and progressive disease that affects 70-100 people in Canada. Vimizim is manufactured by Biomarin Pharmaceuticals (BMRN) and is the first ever treatment available for this rare disorder.

Andrew McFadyen, executive director of The Isaac Foundation and father of a 10 year old boy who suffers from a similar condition called MPS VI, says today’s decision provides hope for sufferers of Morquio A syndrome and their families. “Approval of this treatment is a huge step forward for the Morquio community, and provides hope for a promising future for these patients. Vimizim is the first treatment ever for this condition, and targets the underlying causes of the disease. As a whole, this will have a dramatic impact on the lives of sufferers. This is such incredible news.”

McFadyen notes that clinical trials were so effective that the FDA requested a priority review for approval, which was granted in February in the United States and in April in the European Union. Health Canada followed suit and requested a priority submission from Biomarin.

The approval means “new hope” for Debbie Braun, who lives in Ontario with her two boys, Lucas, 17, and Zane, 14. Both children suffer from Morquio A syndrome. “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!”

This sentiment is echoed by Lucas, who added his other reasons for participating in the clinical trial. “I did this so that other kids just like me could have this drug. I’m so happy that some of my friends can now go on this treatment. I feel so much better and I feel like I can do anything, and the first thing I want to do is learn how to drive!”Both Lucas and Zane have been part of the clinical trials for Vimizim and travel 6 hours round-trip to The Hospital for Sick Children in Toronto for their weekly infusions. Zane says it’s all been worth it, “I feel better on this drug and now all the other kids that have Morquio A syndrome can too.”

McFadyen is calling on all provincial governments to act quickly to ensure that reimbursement for the new treatment is forthcoming so that all patients in Canada can begin treatment immediately. He points out how important early diagnosis and treatment are in winning the battle against the disease. “With other enzyme replacement therapies, including the one my own son has been receiving for the past 8 years, we know that it can slow down or even halt the disease progression. It’s very important to begin treatment as soon as possible after diagnosis so that some of the devastating symptoms can be prevented, slowed down, or minimized. My son’s life was saved when he began ERT. With the incredible results seen during the clinical trials for Vimizim, I have every reason to believe this treatment will have the same results.”

Gaining access to the drug may prove difficult for families, as provincial governments have been notoriously slow to provide reimbursement so that treatments can begin in a timely fashion. “Part of the issue with providing access to rare disease treatments lies with the Federal government and our lack of an orphan drug policy in this country. But that’s only part of the problem. Provinces need to make the path clearer and easier, with evaluations on the effectiveness of rare disease treatments receiving a heightened priority as soon as they are approved by Health Canada. The current wait of two years or more is having a detrimental effect on patients who require immediate access to therapy.”

Currently, provinces require new treatments to undergo a Common Drug Review (CDR) before they even consider reimbursement and listing on provincial drug plans. This process typically takes 18 months or more. Once a CDR is completed, the drug in question heads to the Pan-Canadian Pricing Alliance (PCPA) so that negotiations can begin to achieve a reduced price from the drug manufacturer, a process that could take an additional 6 months to a year to complete.

“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. As an advocate, and as a father of a child suffering from a rare disease, the process is frustrating. Gaining access to life-sustaining treatments is rarely a problem in most of the developed world but in Canada, denial of access is the norm.”

Debbie Braun agrees and hopes the provincial governments in Canada will allow patients to have immediate access to the new treatment. “I truly hope that all newly diagnosed patients with Morquio A syndrome can have access to this treatment before the disease has a chance to take from them what it has taken from my boys.”

Adds McFadyen, “These patients have a new hope of a healthier future, and I’m confident the provinces will work together and in an expedited fashion to see that hope become reality.”


Morquio Family Tree fundraising for rare disease

Morquio Family Tree fundraising for rare disease

© Photo source: Morquio Family Tree Facebook page Melanie Bourdon, 11.

© Photo source: Morquio Family Tree Facebook page Melanie Bourdon, 11.

CORNWALL, Ontario – Two brave local children diagnosed withMorquio Syndrome will be putting a face on the rare disease wreaking havoc on their bodies at a fundraising event Sunday to mark MPS Awareness Day.

The local chapter of the Morquio Family Tree, a parent-led support groupis hosting a spaghetti dinner fundraiser on May 18 to raise funds and awarenessfor Morquio Syndrome.

Special guests Aden Racine and Melanie Bourdon are both affected by this condition and live in the United Counties of SDG.

“It is important for people to attend and learn how they can make a difference in the lives of those with severe disabilities,” said Angelle Bourdon, Melanie’s mother and an active member of the Morquio Family Tree.

The spaghetti supper and information session will take place at the Royal Canadian Legion Branch 544 in Lancaster. Doors open at 5:00 p.m. and the cost of admission is $25.

“Empowering these children with the presence of the community strengthens their ability to advocate for themselves,” she said.

The rare disease (part of the MPS umbrella of lysosomal storage disorders) is caused by an enzyme deficiency and it affects major organ systems in the body and causes bone and joint disease, heart and airway disease, and shortened stature.

“It takes a community to raise a child and when a child is born with a severe medical condition that community becomes much larger,” said Bourdon.

For more information on Morquio Syndrome, sponsoring the event or reserving tickets, contact Angelle Bourdon at

By Adam Brazeau

Published on May 14, 2014



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