Lifeline for Pompe disease patients

RCH clinicians have worked with the Australian Pompe Association, drug company Genzyme and the Federal government to achieve government-subsidised treatment for late-onset Pompe disease. 12-year-old patient Christian Rivera received his first infusion at the RCH last week. The federal government has listed the only registered treatment for Pompe disease, Myozyme (alglucosidase alfa), on the Life […]

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Early Access Program for Nusinersen

Early Access Program for Nusinersen   There has been a lot of activity in the clinical trial space for the treatment of Spinal Muscular Atrophy (SMA) over the last two years, and Nusinersen, has been identified as the first effective drug to treat SMA Type 1.   Developed in California, Nusinersen (know in the USA […]

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INMR diagnostic meetings schedule

Please see below for dates of The Institute for Neuroscience and Muscle Research (INMR) at The Children’s Hospital at Westmead diagnostic meetings schedule. Genetic Muscle Disease Diagnostic Meeting: As we move away from tissue diagnosis towards genetic diagnosis, this forum is to discuss difficult cases and to pool thoughts on the interpretation of results (incorporating […]

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ANN and CRE-NMD Annual Scientific Meeting 2014

Our 2014 Annual Scientific Meeting was a huge success with close to 100 delegates attending, making this our biggest meeting yet! The meeting was held on the 27th and 28th March across The Royal Children’s Hospital and Murdoch Childrens Research Institute in Parkville, Melbourne. Thank you to all those who attended and presented. You all […]

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