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What is Fabry Disease?

Fabry disease is a rare, inherited genetic disorder caused by a defective gene in the body. Individuals with Fabry disease lack an enzyme that breaks down a fatty substance in the body, causing a build-up of cellular waste. This waste accumulates throughout the body, causing some of the symptoms described in greater detail below. Fabry disease is often characterized by symptoms that include pain, impaired sweating, skin rash, a distinctive whorl pattern on the cornea, hearing impairment, and potential kidney problems.

Treatments for Fabry disease are available, including two Enzyme Replacement Therapy (ERT) treatments currently available in Canada, which slow down the progression of symptoms in the body. With new and emerging therapies, there is even more Hope on the horizon.

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What Causes Fabry Disease?

Fabry disease is an inherited metabolic disorder. Individuals with Fabry disease have inherited an altered a-galactosidase A (GLA) gene. The GLA gene is responsible for providing instructions for making an enzyme called alpha-galactosidase A(a-Gal A), which in turn is necessary for breaking down a lipid (fatty substance) in the body called globotriaosylceramide (GL-3 or Gb3). When an individual has Fabry disease, they lack this enzyme necessary to break down GL-3, which then accumulates in cells throughout the body.

Genetic Condition Caused By Enzyme Deficiency

Missing or deficient enzyme (a-Gal A) prevents the proper metabolism of GL-3, so it is not effectively recycled and broken down. This causes cellular waste to accumulate in cells throughout the body. This disease is characterized as a lysosomal storage disorder.

Lysosomal Storage Leads To Progressive Symptoms

GL-3 accumulates in the body’s cells, particularly in cells lining blood vessels in the skin, kidneys, heart, and nervous system. This progressive accumulation of this cellular build-up damages cells and leads to progressive, multi-systemic symptoms over time.  The defective GLA gene is found on the X-chromosome. If a mother carries the Fabry gene, there is a 50% that all of her male and female children will inherit the defective gene. If a father carries the Fabry gene, all of his female children will inherit the Fabry gene, but none of his male children.

Treatment IS Available

The FDA, the European Commission, and Health Canada have all approved treatment for Fabry disease.

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Symptoms of Fabry Disease

There are many symptoms that a patient with Fabry disease might exhibit. Until relatively recently, management of symptoms was the only course of care for patients. However, treatments approved by both the FDA and Health Canada can significantly slow the progression of Fabry symptoms in the body. More information on this treatment and emerging new treatments can be found in our TREATMENT section.

Eyes

A common symptom is a distinctive whorl pattern on the cornea (the surface layer of the eye).

Impaired Sweating

A reduced ability to sweat is a common symptom of Fabry because of damage to nerves and sweat glands. This can lead to overheating, fevers, and sensitivity to temperature changes

Pain

Pain is one of the most common Fabry disease symptoms, particularly in the hands and feet. For many patients, pain can worsen due to a variety of factors, including exposure to hot temperatures, weather changes, fatigue, stress, exercise, and illness. 

Ears

Patients with Fabry disease are likely to have some degree of hearing loss. Fabry disease can also cause tinnitus, a ringing in the ears.

Skin

The most visible clinical features of Fabry disease are dark red or purple skin lesions, called Angiokeratomas.

GI Complications

Symptoms can include abdominal cramps, frequent bowel movements, diarrhea and nausea.

Kidney Problems

Kidney problems are a common symptom of Fabry disease, especially among males. Patients might experience a reduction of kidney function, which can cause an excess of protein in the urine. Serious problems can lead to kidney failure.

Heart

Because of the progressive nature of Fabry disease, hart problems might worsen with age. These might include: enlarged heart, irregular heartbeat, heart attack.

Brain and Nervous System

Because an excess of GL-3 can interrupt normal blood flow in the brain, patients might experience symptoms that include: weakness, headache, numbness, dizziness, or stroke.

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Talk To Someone With Fabry Disease

If you would like to talk directly with someone living with Fabry Disease in Canada, or a parent of young patient, 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, we’ll connect you with someone right away.

If you would rather connect with us via social media, please find us on the links below:

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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 

7

Months to Review and Receive Approval from Health Canada

6

Months Estimated to Complete COMMON DRUG REVIEW process

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 

 

 

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Support for Accessing Treatment in Canada

If you would like assistance obtaining treatment for Fabry Disease 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 companies that make these treatments 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:

Fabry Disease in Canada

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Emerging and Exciting New Treatments

While ERT with Elaprase has dramatically altered the outlook of Hunter Syndrome 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 set to begin soon and it is hoped these new treatments will finally provide our patients and families with the cure we have all been looking for.

Gene Therapy for MPS II - A Curative Solution?

There are numerous Gene Therapy projects being studied in research labs around the world, with a few promising ones almost ready for clinical trials in humans. These gene therapy approaches to dealing with Hunter Syndrome have been shown to stop and correct the vast majority of symptoms, including cognitive decline, in the lab setting. Contact us directly so we can share any information we have.

Other Innovative Projects

Shire Pharmaceuticals currently has a clinical trial underway that delivers enzyme directly to the brain of patients suffering or at risk of suffering from cognitive decline as a result of the disease.  Phase I/II results have looked impressive and a Phase III trial is currently underway.