First approved treatment for patients and families in Quebec living with ultra-rare, severely debilitating and progressive disease
MONTREAL, July 14, 2014 /CNW Telbec/ - The Regroupement Québécois des maladies orphelines (RQMO; Quebec Coalition of Orphan Diseases) applauds Health Canada's recent approval of VIMIZIM™ (elosulfase alfa), the first and only pharmaceutical treatment option available for patients living with Morquio A syndrome. Targeting the underlying cause of the disease, VIMIZIM has been shown to slow the progression of Morquio A and significantly improve quality of life. Patients and families of the Morquio community are calling on the Quebec government to provide swift access to VIMIZIM for those who may benefit from it.
Also known as mucopolysaccharidosis IVA (MPS IVA), Morquio A is an ultra-rare, genetic, severely debilitating and progressive disease that substantially limits both the quality and length of life for those affected by it. Symptoms often appear within the first five years of life and include abnormal bone development and short stature. Complications include significant respiratory and heart problems, impaired vision and hearing, and difficulty walking, many patients being wheelchair-bound.
The estimated prevalence is between 50 and 100 patients in Canada, with the highest incidence being found in Quebec, where approximately 30-45 patients are affected.
"The Health Canada approval of Vimizim is very good news for families affected by Morquio A because it is the first and only therapeutic option to treat this progressive and debilitating disease. The estimated forty patients in Quebec should have access to this treatment, as do other patients living with rare diseases, like Gaucher, Fabry and tyrosinemia. The RQMO and the Quebec Morquio Community ask that the provincial government provide patients with access to Vimizim as quickly as possible. Time is of the essence - the earlier patients start treatment, the greater the impact will be on their health," says Gail Ouellette, geneticist and General Manager of RQMO.
"The results from the Vimizim clinical trial program are very encouraging for people with Morquio A. It is the only therapy accurately targeting the biological mechanism which causes this disease. Until now, we could only observe the evolving manifestation of the disease and mitigate its effects. Now, we can try to slow the progression of the disease," says Dr. Bruno Maranda, medical geneticist, Head of the department of Medical Genetics at the CHUS and clinical trial investigator for VIMIZIM. "When one of the children who had been treated told me he was able to get back on its bicycle after a year of treatment, it demonstrated the full impact of this therapy in everyday life."
Families finally have a reason for hope
Nineteen year old Laurie Patry-Pelletier was diagnosed at the age of six. Two years ago, she was given the opportunity to participate in the Phase 3 clinical trial. "Since I started treatment in 2012, I have noticed a significant improvement in my endurance. I have regained the necessary energy to undertake new projects, such as going back to school and partner with my mother in a family business project," says Laurie.
"Since Laurie was diagnosed, we have worked tirelessly to help her improve her health and ensure that she has the best possible quality of life. She does special exercises to help strengthen her muscles and follows a healthy diet," says her mother, Isabelle Patry, who shows Laurie her support and perseverance, helping her to grow and flourish. "Since she started receiving Vimizim, the change has been significant; our lives have completely changed for the better. Laurie now has more independence and is finally able to walk. Without access to treatment, her quality of life would surely crumble."
Immediate action is required to ensure benefit to patient's lives
Although Health Canada recently approved VIMIZIM, it is now up to the Quebec government to conduct its individual evaluation and decide whether to provide access to the treatment through public funding. With the support of the RQMO, the Morquio community in Quebec urges the province's decision-makers to make the right decision and provide access to VIMIZIM.
"'I've been working with families in Quebec living with Morquio A for the last ten years. For them, this first treatment option is a sign of real hope. Some children have even contributed to the development of this medication by participating in the clinical trials in Montreal and Sherbrooke. Some families have two children or adults living with this genetic disease. We need these people to have the fastest possible access to treatment, especially the children in whom the disease hinders normal development and causes disabilities and the need for multiple surgeries," says Gail Ouellette.
Over the next few weeks, the Quebec Morquio community - including patients, parents, friends and supporters - will mobilize to raise awareness of this ultra-rare disease and the importance of access to treatment for all patients.
About Morquio A Syndrome
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A syndrome, is an ultra-rare genetic disease. People with this disease have a deficient enzyme (N-acetylgalactosamine-6-sulfate, or GALNS) that is essential to the breakdown and removal of chains of sugar molecules called glycosaminoglycans, or GAGs. The excessive storage of these molecules causes skeletal dysplasia, short stature and joint abnormalities which limit mobility and endurance. Malformation of the chest impairs respiratory function, and looseness of joints in the neck cause spinal instability and potentially spinal cord compression. Other symptoms may include hearing loss, corneal clouding and heart disease. Initial symptoms often become evident in the first five years of life. The disease substantially limits both the quality and length of life of those affected.
The Regroupement Québécois des Maladies Orphelines (RQMO) regroups 26 rare disease associations and individuals living with rare diseases, as well as family members and caregivers. RQMO's mission is to inform and educate while providing support to patients suffering from rare and orphan diseases, as well as their families and health professionals, through a Information and Resource Centre for Rare Diseases (www.rqmo.org). RQMO also works to advance knowledge and research by facilitating collaboration between patients and researchers.
SOURCE: Regroupement québécois des maladies orphelines
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Regroupement québécois des maladies orphelines