Professor Joshua Burns has launched an updated web-based tool too assist researchers and clinicians to measure the level of disability in Charcot-Marie-Tooth disease (CMT). This new website enables users to rapidly score clinical outcome measures including: the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS), CMT Infant Scale (CMTInfs), CMT Functional Outcome Measure (CMT-FOM), CMT Neuropathy Score (CMTNS) […]
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Recruitment Request: Understanding patients’ and carers’ decision making in Spinal Muscular Atrophy Care
Associate Professor Michelle Farrar and colleagues from Sydney Children’s Hospital (Randwick) are conducting a new research project to lean more about what factors are important when making decisions related to treatment for spinal muscular atrophy (SMA). They are seeking the views of parents/carers of people with SMA, health care providers and the wider community. Please find attached more […]
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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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Development of Allied Health and Nursing Best Practice Guidelines for Duchenne muscular dystrophy
The development of the Duchenne muscular dystrophy clinical practice guideline is currently underway utilising an NHMRC guided process. In keeping with this process, a call for committee members to join the scientific steering group is now open. We would welcome your participation. The guideline development process involves a number of steps. As a snapshot, the […]
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