Hunter Syndrome is a rare and debilitating genetic disorder. It is a form of Mucopolysaccharidosis (MPS II) and is characterized by significant bone and joint disease, as well as numerous other symptoms throughout the body.
Patients suffering from Hunter 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.
Treatments for Hunter Syndrome are available and there is much Hope on the horizon. Currently, an enzyme replacement therapy exists to help slow down the disease in the body, and a clinical trial is underway for a treatment to help battle the disease in the brain (only some patients are impacted by cognitive disease). In addition, there are promising gene therapy projects underway that are showing significant and promising results in the lab setting. It is hoped that these treatments will enter the clinical trial stage soon.
There are many symptoms and associated consequences for patients suffering from Hunter Syndrome. Until recently, management of symptoms was the only course of care for patients. In 2006, 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 the Treatment section.
Hope for Hunter Syndrome Patients and Their Families
In 2006, the first ever treatment for Hunter Syndrome was approved in the US, European Union, and Canada. Elaprase, created by Shire Pharmaceuticals, is a synthetic version of the I2S enzyme that patients are lacking in their blood. This enzyme replacement therapy (ERT) was passed 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. Treatment with Elaprase has given new Hope for families dealing with Hunter Syndrome, and has dramatically altered the course of the disease over the past 10 years.
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.
If you would like assistance obtaining ELAPRASE 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 ELAPRASE (Shire 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.
