The Centre for Community-Driven Research (CCDR*) are partnering with SMA and MD organisations in Australia to conduct a study to understand the experience of those affected by SMA and their needs in relation to future treatment, support, care and information. This study will result in a report that we can all use for future advocacy […]
This study demonstrates the cost-effectiveness of investigation using massively parallel sequencing technologies in paediatric muscle disease. The findings emphasise the value of implementing these technologies in clinical practice, with particular application for diagnosis of Mendelian diseases, and provide evidence crucial for government subsidy and equitable access. Please click for the full paper
There has been a lot of activity in the clinical trial space for spinal muscular atrophy in the last 2 years. Nusinersen is an antisense oligonucleotide, or a short synthetic stretch of nucleic acid, that is designed to specifically bind SMN2 transcripts and “correct” SMN2 gene expression. Two hospitals in Australia- the Royal Children’s Hospital […]
Professor Joshua Burns, Dr Manoj Menezes and the Centre of Research Excellence in Neuromuscular Disorders have just released a new app for early career neurologists, medical trainees and clinicians looking to further understand the genetic basis of Charcot-Marie-Tooth disease (CMT).
Getting the support you and your health profesionals need The Foundation is thrilled to release a range of educational toolkits for patients, GP’s and Allied Health Professionals. Our goal is to empower our community when championing for support within the medical world. In September 2015 FSHD Global convened a workshop of 13 leading international and Australian […]
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, […]
The 1000 Norms Project has again been featured in the media! To date, over 600 people have volunteered to be in the study. To find out more, watch this video where Professor Josh Burns explains the important meaning behind the project and how it can help patients with neuromuscular disorders. The researchers are still seeking […]
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 […]
UCL Institutes of Neurology and Child Health MRC Centre for Neuromuscular Diseases CLINICAL RESEARCH ASSOCIATES X 3 An exciting opportunity for three Clinical Research Associates has arisen at the MRC Centre for Neuromuscular Diseases, UCL Institutes of Neurology and Child Health. The CRAs will have the opportunity to undertake experimental and/or clinical research in neuromuscular […]
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 […]
The Allied Health and Nursing Alliance (AHNA) has now been established! We are seeking new members to join our dynamic team to work towards providing one Australasian voice for the Allied Health and Nursing care and research of patients with neuromuscular disorders. Please visit our AHNA webpage for further details: http://www.ann.org.au/allied-health-and-nursing-alliance-ahna/.
Sudden Cardiac Death in Duchenne Muscular Dystrophy: Incidence and Prevention Patient Registry Please click the below link for more information: Approved_DMD Patient Registry Flier_v2 (2)
The Duchenne Foundation’s Melbourne Symposium was held on the 29th March in Melbourne, coinciding with the ANN Annual Meeting. Audio files of the Symposium’s presentations may be of interest to ANN Members and can be accessed on the Duchenne Foundation website via the link: http://goo.gl/50JB0r
Currently there are no accurate predictors of the need for a sleep study in children with DMD. Symptoms of breathing problems in DMD are slow to develop, and often are not noticed by the individual. Once symptoms of waking with a headache or being sleep during the day are reported, a sleep study often finds […]
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 […]
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.