MPS I is a rare and progressively debilitating genetic disorder. It is a form of Mucopolysaccharidosis (MPS I) and is characterized by significant bone and joint disease, as well as numerous other symptoms throughout the body.
MPS I was previously separated into three separate syndromes: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome, listed in order from most to least severe. The condition is now divided into two subtypes: attenuated MPS I (Hurlier-Scheie and Scheie syndromes) and severe MPS I (Hurler syndrome).
Patients suffering from MPS I 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.
Treatments for MPS I are available and there is much Hope on the horizon, including hematopoietic stem cell transplant (HSCT) and enzyme replacement therapy. Currently, an enzyme replacement therapy exists to help slow down the progression of the disease in the body. In addition, there are promising gene therapy projects underway that are showing significant and promising results in the lab setting. One of these genome editing treatments has entered the clinical trial stage.
MPS I is an inherited genetic disorder caused by a deficiency of an enzyme called alpha-L-iduronidase (IDUA). Deficiency of this enzyme causes cellular waste to build up in the body and progressively store in the bones, tissues, organs, and muscles. MPS I tends to affect males and females equally, and is estimated to occur in 1 in 100,000 live births, with approximately 90 cases in Canada.
Genetic Condition Caused By Enzyme Deficiency
Missing or deficient enzyme (alpha-L-iduronidase, or IDUA) 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 IDUA deficiency, leading to progressive, multi-systemic and debilitating symptoms.
Treatment IS Available
The FDA, the European Commission, and Health Canada have all approved a treatment for MPS I. Developed by BioMarin and SanofiGenzyme, this enzyme replacement therapy (ERT) delivers a synthetic version of the IDUA enzyme into the bloodstream and helps to slow down the progression of the disease.
If you would like to talk directly with other parents of MPS I patients in Canada, please fill out your information and one or more will contact you as soon as possible. When things get stressful and tough, sometimes it helps to speak with someone in similar circumstances, fighting the same battle that you are.
At the same time, sometimes it’s just nice to connect! Whatever the reason, if you’d like to talk with an “MPS I Mom or Dad”, we’ll connect you right away.
There are many symptoms and associated consequences for patients suffering from MPS I. Until recently, management of symptoms was the only course of care for patients. In 2003, the first ever treatment for Hunter Syndrome was approved by the FDA, the European Commission, and Health Canada. More information on this treatment and emerging new treatments can be found in our TREATMENT section.
The symptoms of MPS I are often not present at birth, but begin to appear during childhood. Patients with severe MPS I being to develop the features of MPS within the first year, earlier than those with attenuated MPS I.
Brain and Cognitive Impairment
Those with MPS I may have a buildup of fluid in the brain (hydrocephalus). People with severe MPS I experience a decline in intellectual function. Developmental delays and regression in severely affected individuals result in the loss of basic functional skills. Individuals with attenuated MPS I may have learning disabilities, while others have no intellectual impairments.
Skeletal Symptoms
Individuals with MPS I may have a wide range of skeletal symptoms. These can include shortened stature; enlarged head and facial features; carpal tunnel syndrome; narrowing of the spinal canal (spinal stenosis); joint deformities; and dysostosis multiplex.
Specialist Care
Patients battling MPS I often visit numerous specialists to help manage their disease. These can include, but aren’t limited to, MPS Genetic Specialists, Neurologists, Orthopedists, Cardiologists, ENTs, Ophthalmologists, Pulmonologists, and Rheumatologists.
Heart and Airway Disease
People suffering from MPS I can develop frequent upper respiratory infections, and sleep apnea. Heart valve abnormalities can lead to heart failure.
Decreased Endurance
Studies have shown that endurance of MPS I patients is greatly impacted by the progression of the disease. Patients receiving enzyme replacement therapy show improved pulmonary function and walking capacity.
Surgical Interventions
In almost all cases of MPS I Disease, patients need multiple surgical procedures. These may include skeletal corrections, heart valve replacements, and other procedures.
Eye and Vision Issues
Individuals may develop corneal clouding, which can cause significant vision loss.
Hearing Loss
Hearing loss and recurrent ear infections are common symptoms of MPS I.
In 2003, the first specific therapy for MPS I was approved in the US and the European Union. Aldurazyme, developed by Sanofi Genzyme and BioMarin, is a synthetic version of the IDUA enzyme that patients are lacking in their blood. This enzyme replacement therapy (ERT) was passed through the approval process because of the significant unmet need the treatment provided patients.
Aldurazyme is indicated for patients with Hurler and Hurler-Scheie forms of MPS I, and for patients with the Scheie form, who have moderate to severe symptoms. While Aldurazyme has not been evaluated for the effects on the central nervous system, this ERT has been shown to improve pulmonary function and walking capacity in patients.
"We were very lucky. Without the treatment, she would have died from all the complications — untreated, children have a very bad quality of life and typically die before they are seven. "
Jesús Navarro, Father of a child with MPS I , on the possibility of not being able to access treatment for her daughter.
Reimbursement of Treatments 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. Pharmaceutical companies can and should help patients now while these processes play out, and I am always confident they will do everything they can to help patients in need . 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 the bureaucratic 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. The process to decide whether to cover such treatments is long and arduous, beginning with a review by CADTH (Canadian Agency for Drugs and Technology in Health). This review can take 6-12 months, at which point a recommendation will be rendered to either list the drug on provincial drug plans, list the drug with conditions (such as a decrease in price from the manufacturer or restrictions on which portion of the patient population can access the drug), or do not list at all.
If a drug receives a positive recommendation, the file then moves to the pCPA (Pan-Canadian Pharmaceutical Alliance) for bulk pricing negotiations. In this stage, negotiators assigned to represent all prices open discussions with the company in an attempt to come to terms on the cost. Because rare disease drugs are often some of the most expensive in the world, these negotiations take a very long time – anywhere from 6-18 months. If negotiations result in a deal, provinces can then decide to accept the deal and begin delivering the drug to patients on their drug plan. Occasionally, no deal is able to be struck between pCPA and the company, and the drug remains difficult or impossible to secure for patients in need.
While these processes undergo their reviews, Physicians with patients suffering from a rare disease may 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, especially while the CADTH reviews are in place. In many provinces, policies are in place that prevent these decisions from being rendered until the above reviews have been completed. Companies can work directly with governments to see how drugs can be accessed while reviews are taking place, and they are often encouraged to show a willingness to help provide access for their patient population by drugs on a compassionate use basis.
Bureaucratic Path to Reimbursement – Information and Estimated Timelines
Bureaucratic Path to Reimbursement Could Take 18-24 Months Longer
A company submits their drug to Health Canada for review and approval for use in Canada. Many reviews for rare disease drugs are considered a “priority” review because of the potential impact the therapy could have on patients.
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 (pCPA)
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 a drug receives a recommendation at CDR to continue to the pCPA negotiation process, negotiations could take 12-18 months.
While ERT with Aldurazyme has dramatically altered the outlook of MPS I over the past decade, emerging new treatments will be the future gold-standard of care for patients. Curative solutions are being investigated in the lab setting which include gene therapy projects and gene editing ideas. Clinical trials in humans are either set to begin or have already started, and it is hoped these new treatments will finally provide our patients and families with the cure we have all been looking for.
If you would like assistance obtaining Aldurazyme 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. Many Provinces already provide access for patients in need, but we will be here to help if you have any issues. We can also help you connect with other families undertaking the same processes, connect with Sanofi Genzyme 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.
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When someone is diagnosed with a rare disease, it’s heartbreaking. Everything. Simply. Stops. Hope seems lost, and there seems like there is nowhere to turn.
1 in 10 people currently live with a rare disease. 30% of children affected with a rare disease won’t live to see their 5th birthday. Yet, 95% of rare diseases have no available treatment option.
These statistics are staggering. But there is Hope. At the Isaac Foundation, we’re here to help. Reach out to us for support, education, or help gaining access to the life-saving treatments you or your child need.
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