Professor Joshua Burns and the Centre of Research Excellence in Neuromuscular Disorders have just finalised a new calculation tool to measure the level of disability in children with Charcot-Marie-Tooth disease (CMT). The CMTPedS Calculator is a user-friendly online tool developed to support the CMT Pediatric Scale, which collects validated measures of strength, dexterity, sensation, gait, […]
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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