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MyLifeMyVoice study

The MyLifeMyVoice study seeks to describe the current health and wellbeing of teenagers living with NMD in Australia and New Zealand, and explore what teenagers think and feel about engagement in their health care. This study involves a questionnaire that can be completed with the help of a study volunteer. A few teenagers are also […]

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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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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 […]

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Congenital muscular dystrophy outcome measures

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 […]

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