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
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.
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.
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.
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.
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.
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.
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.
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
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