Gaucher Disease

Research

AN ONLINE RESOURCE FOR GAUCHER DISEASE PATIENTS AND THEIR FAMILIES
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What is Gaucher Disease?

Gaucher disease (pronounced go-shay) is a rare, inherited genetic disorder. It is a metabolic disorder, caused by the buildup of fatty substances in the body. While symptoms can vary greatly from patient to patient, Gaucher disease is characterized by an enlargement of many tissues and organs, particularly the spleen and liver; bone abnormalities; blood abnormalities leading to anemia and easy bruising; as well as other symptoms throughout the body, depending on the type of Gaucher disease.

Treatments for Gaucher disease are available, with even more Hope on the horizon. There are two types of Gaucher disease treatments currently available, including enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). These treatments slow down the progression of symptoms in the body.

There are several types of Gaucher disease, based on their characteristic features:

Type 1 Gaucher disease (non-neuronopathic Gaucher disease) is the most common form of this type of condition. Characterized as non-neuronopathic Gaucher disease, neurological complications are absent in Type 1. The central nervous system, the brain and spinal cord, are usually not affected. Features of this condition can range from mild to severe, and may appear anytime in childhood or adulthood. Significant signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), anemia, easy bruising as a result of a decrease in blood platelets, lung disease, and bone abnormalities including bone pain, fractures, and arthritis.

Types 2 and 3 are known as neuronopathic forms of the disorder, characterized by problems that affect the central nervous system. These conditions include the signs and symptoms of Type 1, and can also cause abnormal eye movements, seizures, and other neurological complications.

Type 2, also known as acute neuronopathic Gaucher disease, often leads to life-threatening medical problems beginning in infancy.

Type 3, known as chronic neuronopathic Gaucher disease, also affects the central nervous system, but typically progresses more slowly than Type 2.

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What Causes Gaucher Disease?

Gaucher disease is an inherited metabolic disorder and is one of the most common lysosomal storage disorders. Individuals with Gaucher disease do not produce enough of an enzyme called glucocerebrosidase (GCase). GCase is responsible for breaking down cellular waste in the body; it is needed to break down a fatty substance called glucocerebroside. Without enough of the GCase enzyme, the fatty glucocerebroside builds up in the body, particularly in the liver, spleen, bone marrow and nervous system. When this waste can’t be broken down and recycled, it stores in the bones, tissues, and organs, and leads to some of the symptoms described below.

Gaucher disease affects up to 1 in 40,000 live births in the general population. Gaucher disease is more common among individuals of Ashkenazi Jewish ancestry, occurring in approximately 1 in 450 within this population.

If both parents are carriers of Gaucher disease, there is a 1 in 4 chance that their child will be born with this disease.


Genetic Condition Caused By Enzyme Deficiency

Missing or deficient enzyme (GCase) causes cellular waste from the cells to store in the bones, tissues, and organs.  This disease is characterized as a lysosomal storage disorder.

Lysosomal Storage Leads To Progressive Symptoms

The GCase deficiency and subsequent build-up of glucocerebroside in Gaucher patients often causes spleen and liver enlargement, blood problems, and bone issues. The progressive, multi-systemic nature of this lysosomal storage disorder can cause debilitating symptoms.

Treatment IS Available

The FDA, the European Commission, and Health Canada have all approved treatments for Gaucher disease.

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Symptoms of Gaucher Disease

There are many symptoms and associated consequences for patients with Gaucher disease. The symptoms of Gaucher disease present over time, and can include the following:

Low Platelet Count

An enlarged spleen destroys blood cells too quickly, including platelets which are responsible for clotting, even after minor injuries.

Bleeding and Clotting

Because they have fewer platelets, Gaucher patients can have bleeding issues: frequent nosebleeds, easy bruising, and gum bleeding are common. Serious bleeding problems can occur after dental work, surgery, trauma, and childbirth.

Spleen and Liver

The build-up of Gaucher cells in the spleen and/or liver cause these organs to become enlarged. They can cause the belly to become swollen and painful.

Anemia

Anemia, or low levels of red blood cells carrying energy-producing oxygen to all parts of the body, is a common symptom.

Fatigue

Excessive tiredness is common for Gaucher symptoms, caused in part by anemia, as well as other factors of the disease.

Lungs

Some patients might experience an accumulation of glucocerebroside in the lungs, causing respiratory problems

Bone Pain

People with Gaucher disease often experience bone pain, including severe episodes known as “bone crisis,” caused by reduced blood flow to the bones.

Avascular Necrosis (AVN)

When parts of the bones do not receive enough oxygen, bone tissue can deteriorate and die. Bone infraction can lead to hip or shoulder problems, severe arthritis, and an increased fracture risk.

Osteopenia and Osteoporosis

Gaucher disease causes a loss of calcium and mineral content in the bones.

Spontaneous Fractures

The weakening of the bones (caused by osteopenia and osteoporosis) makes them more likely to break. Bone fractures in Gaucher patients can occur, even without trauma.

Joint Damage

Many of the above symptoms can lead to severe joint pain and damage, and arthritis.

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Talk To Someone With Gaucher Disease

If you would like to talk directly with someone living with Gaucher 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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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.

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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 Gaucher 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:

Gaucher Disease in Canada

 

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 Gaucher Disease 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!

OUR ADDRESS

  • 5291 County Rd. 30
    Campbellford, ON
    K0L 1L0
  • (613) 328.9136
  • alix@theisaacfoundation.com
  • www.theisaacfoundation.com/gaucher/
  • Charitable Business Number: 80693 0079 RR0001

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