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
Brothers with rare condition trying experimental treatment in Toronto
Two brothers from the Wingham area, diagnosed with a rare disease, are hoping to add some years to their lives.
The teenagers, Zane and Luke Braun, travel to Toronto every two weeks – and have been doing so for the past two years – for an experimental treatment for Morquio syndrome, a disease that causes dwarfism, heart and lung issues and pain and discomfort.
The treatments are working, but are not likely to reverse the effects of their incurable condition.
Zane, 14, and Lucas, 16, have had 11 surgeries between them.
“They see nine specialists at Sick Kids in Toronto. We made 72 trips to Toronto last year,” says their mother, Debbie Braun.
While most of those trips over the past decade have been to deal with the ongoing problems, the past two years have been spent trying to find a remedy for their deteriorating condition.
The experimental treatment involves a new drug called vimizim. It is meant to replace the enzymes they’re missing, which break down complex sugars in their body. It’s a six-hour treatment once a week they’ve undergone for the past 121 weeks, but it’s finally working.
“I’ve noticed big changes in them; how they feel. They’re not falling asleep like they used to. They’re breathing tests are better,” Braun says.
Five other patients in Toronto are on the drug and many more across Canada and the U.S. are trying it.
“What we’ve seen in the research trials is that it has improved mobility, endurance and energy levels in participants. It has also decreased the excess sugars in the body and hopefully will slow down the progression of the disease,” says Julian Raiman, a metabolic geneticist at The Hospital for Sick Children.
Vimizim is not a cure, but it’s hopefully buying time for Zane and Luke. The life expectancy for Morquio patients is between 20 and 40 years.
“It’s slowing the progression of our disability down. It’s not really helping us, but keeping our problems to a minimum,” says Lucas
Approval for the drug is now in the hands of Health Canada and the FDA. It could take more than three years for that approval. The boys will stay on the drug until a government decision is made.
“I don’t want anyone to go through what I’ve gone through for the past 12 years,” says Zane. I couldn’t imagine what it would be like right now to be sitting in a wheelchair doing nothing. I can’t imagine that.”
Neither can their mom.
“I’d drive to the moon and back if it meant one more day with you. I think I have put that many miles on the van. But if it means one more day. That’s what we’re doing it for. We’d like other families with Morquio to have the same opportunities we’ve had, too.”
Published Tuesday, December 24, 2013 2:19PM EST
Drug trial for Whitechurch family a sign of new hope
The last 121 weeks for Luke (16) and Zane (14) Braun of Whitechurch have been positive in the eyes of their doctors said their mother Debbie Braun has also seen improvement in their energy levels. The two teenage brothers are going through a clinical drug trial to help slow the advancement of Morquio A Syndrome. It’s a rare genetic disorder that will shorten their lives.
Luke and Zane are missing an enzyme that breaks down complex sugars causing dwarfism, respiratory problems and extreme exhaustion. Approximately 3,000 people are living with Morquio A Syndrome around the world.
The boys are part of a few who are testing the drug, Vimizim, in Canada, which was recently sent to the US Food and Drug Administration (FDA) in the US for approval as well as it being sent for approval to Health Canada. Debbie said she has seen a marked improvement in both her sons’ energy levels. She said they are able to go through a whole day without having to rest.
“All of the different results the doctors have come up with for the last 121 weeks have been coming up positive especially from their lung function tests and with their endurance levels. Everything is all positive so they have decided to send all of the paperwork off to get approval from the FDA and Health Canada,” said Braun. “This drug will slow the progression of the syndrome down and make their lives more manageable.”
Metabolic geneticist Dr. Julian Raiman said the drug will decrease the amount of sugars in their bodies and will potentially slow down the progression of the disease. Raiman said he has seen a significant improvement in their testing. One of the tests he said tests their endurance by climbing stairs. He said they are able to do that at an increased efficiency.
Debbie said her boys have been able to be more like regular teenagers since they have been on the drug. They are able to stay up late like many teenagers do and she said the added energy has given them the ability to be more attentive at school as well. Both of the boys attend FE Madill School in Wingham. Zane is in Grade 9 and Luke is in Grade 11.
“Before they were on the drug the boys were doing a lot of napping during the day because they were exhausted. They would often fall asleep on the bus on the way home from school as well as after dinner a lot of the time. I’ve certainly noticed since they have been on the drug that they are much more energetic and can stay awake for the whole day,” said Debbie. “Luke has done really well in school especially with the amount of time missed being in Toronto doing the drug trial. Zane has also been a lot of more attentive at school and his teachers have said and he is learning a lot better because he’s not so exhausted when he is in class.”
Debbie said the drug trial has given her and her family hope for the Luke and Zane’s future. The treatment isn’t a cure, but Debbie hopes it will give her sons time to live their lives as independent well-adjusted people.
“When the boys were first diagnosed I was told it was a progressive degenerative disease and that at some point the boys would pass away and wouldn’t live long,” said Debbie. “The treatment has given us more hope and it makes the quality of their lives better, which is important to me. I just want them to be as independent as possible and it makes me so proud to see where they are in their lives right now.”
Debbie said one of the big reasons Luke and Zane went on the drug trials was to improve their condition, but to also provide help for the other people who have Morquio A Syndrome. It’s another point of pride for their mother. She said the boys are very selfless people who never seem to get down due to their situation.
“One of the reasons we started this drug trial wasn’t just for the boys and I think that was one of Luke and Zane’s goal started. They do want to live longer, but they also want to give all of the friends they have met with Morquio Syndrome to have access to the drug as well,” said Debbie. “Right now Luke and Zane are on the drug and they have access to it, so getting approval for it is extremely important to us. Luke and Zane are very kind hearted and they want to help everyone they can through this drug trial and they make me so proud everyday because of things like that.”
By Garit Reid, Grey-Bruce This Week
New drug treatment offers boys a future
When Debbie Braun’s sons, Lucas, 16 and Zane, 14, were first diagnosed with Morquio A syndrome (also known as Mucopolysaccharidosis Type IVA or MPS IVA), a genetic metabolic disorder, the news was devastating. She was told there was no cure or treatment for the disease, and that they most likely wouldn’t live past their 20s.
Symptoms of Morquio A substantially limit both the quality and length of life of those affected, and may include systemic skeletal dysplasia, malformation of the chest, short stature, joint abnormalities, hearing loss and heart disease.
Lucas and Zane’s breathing and mobility have been impacted dramatically due to skeletal abnormalities and deformities caused by the disease.
Fortunately, the first-ever investigational treatment for Morquio A has been submitted to Health Canada under Priority Review. Vimizim has been shown to slow the progression of the disease, and the potential approval would fill a serious unmet medical need for Canadian patients.
Results of clinical trials demonstrate that Vimizim offers a substantial benefit to patients with Morquio A, and Lucas and Zane are already experiencing improved alertness, breathing, mobility and reduced need for orthopedic surgeries.
The approval of Vimizim is extremely important to Debbie and her boys, as it would not only make it the first available drug treatment option for Canadians living with this devastating disease; it would also mean that Debbie, Lucas and Zane could shift their perspective to focus on the future – something they could never have imagined before.
The drug’s manufacturer BioMarin Pharmaceutical Inc. announced last week that it submitted the drug under Priority Review status. The drug is an investigational enzyme replacement therapy for the treatment of patients with the lysosomal storage disorder Morquio A syndrome. Approval of Vimizim would make it the first available drug treatment option for Canadians living with this metabolic disorder.
“Morquio A is an extremely rare disease that substantially limits both the quality and length of life for those affected by it. There is no cure, and current available treatments are primarily symptomatic,” said Dr. Julian Raiman, a leading pediatric metabolic geneticist based in Toronto. “The potential approval of Vimizim would fill a critical unmet need for patients living with this severely debilitating, life-limiting and progressive disease.”
Health Canada designates Priority Review to drugs that offer major advances in treatment or provide a treatment where no adequate therapy exists. Priority is intended to accelerate the regulatory review.
Debbie Braun said Lucas and Zane must travel each week to Toronto for the drug treatment.
Clinical drug trials give Wingham family new hope
Teenage brothers Lucas (16) and Zane (14) Braun from Wingham are undergoing clinical drug trials to help slow down the progression of Morquio A Syndrome. It’s a rare genetic disorder that will cut their lives short by decades.
The brothers are among the first in Canada to receive the new treatment and they say it’s improving their quality of life. They want more people living with Morquio A to get the same treatment.
They’re on a drug called Vimizim. This week the makers of the drug applied to have it approved by Health Canada. Clinical trials show the drug has improved mobility, endurance, energy levels of test patients.
“It has also decreased the amount of sugars in the body and hopefully will slow down the progression of the disease.” Metabolic Geneticist Doctor Julian Raiman says.
The pair is missing an enzyme that breaks down complex sugars causing dwarfism, respiratory problems and extreme exhaustion. Roughly 3,000 people worldwide are living with Morquio A Syndrome.
“We know how each other feels. If I feel pain right now, Luke would feel the same thing.” Zane says.
There are few treatments available for the condition but Vimizim has given Debbie Braun hope that her boys will have a longer life.
“This drug therapy has actually given us hope,” She says. “It’s that hope they took away from me 14 years ago. They’ve kind of given it back.”
Published Sunday, December 8, 2013 5:37PM EST
Last Updated Sunday, December 8, 2013 7:09PM EST
Luke and Zane Braun – Easter Seals on CBC Television
February 24, 2010
Lucas and Zane are two brothers who suffer from Morquio Syndrome (http://en.wikipedia.org/wiki/Morquio_…). Although small in stature their personalities are larger than life.