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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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 […]
Call for patients with a syndrome of cerebellar ataxia with prominent motor and sensory neuropathy and chronic cough
Search for more families: potential new disease gene identified. We are conducting genetic analyses on the following family with a Syndrome of cerebellar ataxia with prominent motor and sensory neuropathy and chronic cough, and are searching for any similar families to help confirm our research findings. Do you know of a patient or family with […]
The 173rd ENMC/TREAT-NMD workshop on congenital muscular dystrophy (CMD) outcome measures is the 9th CMD workshop, beginning in 1993 with the establishment of a CMD consortium. The workshop brought together 22 clinicians and experts from ﬁve countries to advance the implementation of suitable clinical outcome measures and endpoints speciﬁc for the CMDs to advance CMD clinical trial readiness. The CMDs […]
Our goal is to ensure excellence in diagnostic methods and clinical management, and equal access to clinical trials and new therapies, for all individuals in Australia and New Zealand affected by neuromuscular disorders.
We can achieve our vision by establishing a cohesive, integrated neuromuscular network which enables people to work together across Australia and New Zealand, for the well-being of patients.