Centre of Research Excellence in Neuromuscular Disorders
This project is completed.
We use the latest approaches in medicine, science, nursing and allied health to improve diagnosis, facilitate prevention and transform treatment from compassionate management to effective therapy.
The Centre of Research Excellence in Neuromuscular Disorders is a collaboration of neuromuscular experts.
Why research neuromuscular disorders?
Neuromuscular disorders can be debilitating and reduce a person’s lifespan and quality
While some disorders cause mild muscle weakness, others are severe and make it impossible to walk, or cause vital organs such as the heart and lungs to eventually fail.
Neuromuscular disorders are complex and challenging to diagnose
There are hundreds of genetic changes that can cause neuromuscular disorders. While we know of many, some of these genetic changes have not yet been isolated. It can also be hard to pinpoint the specific genetic changes that are responsible for each person who has a neuromuscular disorder. There is currently no cure or way to prevent neuromuscular conditions. The best treatments available can only delay the start of symptoms or reduce their severity.
Neuromuscular disorders represent a significant cost to both affected families and the community
Neuromuscular disorders are lifelong conditions requiring ongoing treatment and expensive support aids like wheelchairs, walkers, or mechanical lifts. Some parents of children with a neuromuscular disorder reduce or leave paid employment to care for their child. This can cause financial and emotional strain for families, and also impact the community through an increased welfare burden and reduced national productivity.
Our team
Group member | Role |
---|---|
Professor Kathryn North | Institute Director |
Associate Professor Andrew Kornberg | Chief Investigator |
Professor Joshua Burns | Chief Investigator |
Associate Professor Nigel Clarke | Chief Investigator |
Professor Alastair Corbett | Chief Investigator |
Professor Kathryn Refshauge | Chief Investigator |
Associate Professor Michael Buckley | Chief Investigator |
Professor Catriona McLean | Chief Investigator |
Our projects
CARE-NMD survey
This survey aims to identify opportunities to improve the quality of care in Australia, as well as access to care for those with Duchenne muscular dystrophy. The survey is gathering information on access to treatment centres and availability of supportive equipment, as well as the functional ability, disease stage, educational attainment and participation in society among those with Duchenne muscular dystrophy.
The 1,000 Norms Project
This study examines the physical capabilities of 1,000 healthy people aged between 3 and 100 years to identify what the range of ‘normal’ variation is in a healthy population and the influence genes have on physical capabilities.
Long-term study of the natural history of Duchenne muscular dystrophy (Cooperative International Neuromuscular Research Group)
This project is an eight-year ‘natural history’ study of children with Duchenne muscular dystrophy, aiming to track changes over time in their physical abilities, medical problems and experience of health care services.
Study of Ataluren in patients with a nonsense mutation Dystrophinopathy (PTC Therapeutics)
Dystrophinopathies are a group of diseases that include Duchenne muscular dystrophy. A type of gene change called a ‘nonsense mutation’, is responsible for about 10-15% of dystrophinopathies, where it halts the production of the dystrophin protein, which is vital for proper muscle structure and function. This trial is assessing the safety of the drug ‘Ataluren’ and its potential effectiveness in correcting nonsense mutations to enable the body to produce this important dystrophin protein.
Study of early signs of breathing problems during sleep in Duchenne muscular dystrophy
This study is examining the reliability of the tests used to predict when boys with Duchenne muscular dystrophy will begin to experience breathing problems during sleep, in order to detect and treat this problem as early as possible.
Nutraceuticals in Duchenne muscular dystrophy
This study is looking at whether nutritional supplements can help to maintain or improve the functional abilities of boys with Duchenne muscular dystrophy.
The effects of calf massage in boys with Duchenne muscular dystrophy
Boys with Duchenne muscular dystrophy have progressive muscle weakness that is associated with muscle stiffness, muscle shortening and sometimes pain. Many families use massage therapy to address some of these symptoms, despite the lack of scientific evidence of benefit.
The aim of this study is to assess the effectiveness of calf massage on ambulant boys with Duchenne muscular dystrophy, in order to provide advice to families regarding its use.
The Triple F study – Footwear, fatigue and falls in paediatric neuromuscular disease
Children and teens with weakness caused by neuromuscular disorders such as Charcot-Marie-Tooth disease, Duchenne muscular dystrophy and Becker muscular dystrophy often complain of problems with walking. These problems include: difficulties when wearing different types of footwear; frequent trips and falls; and physical fatigue when walking longer distances.
The Triple F study is exploring whether different fitting footwear effects walking among children and teens with these neuromuscular disorders. The study is also examining whether walking changes over distance and the incidence of falls in this population.
Funding
National Health and Medical Research Council (NHMRC)
Collaborations
The Australasian Neuromuscular Network
The Australasian Neuromuscular Network (ANN) was founded in 2010 by members of the Centre of Research Excellence in Neuromuscular Disorders in partnership with other neuromuscular specialists, allied health professionals, scientists and patient advocates across Australia and New Zealand.
The ANN exists to enable those working in the field to share knowledge and work together to more effective research, diagnose, treat, and advocate for those with neuromuscular disorders.
Other collaborating bodies and groups
- RARE-Bestpractices FP7
- Cooperative International Neuromuscular Research Group
- TREAT-NMD
- RD-Connect
- RD-Neuromics
- NIH Inherited Neuropathies Research Consortium
Featured publications
- Diagnostic approach to the congenital muscular dystrophies. 2014 Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN. Diagnostic approach to the congenital muscular dystrophies. Neuromuscular disorders : NMD 24 (4) : 289 - 311(2014) PubMed PDF
- 5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases. 2013. Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S, Stark Z. 5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases. American journal of medical genetics. Part A (2013) PubMed
- A new locus for X-linked dominant CharcotMarieTooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. 2013.Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Zuchner S, Ryan MM, Nicholson GA. A new locus for X-linked dominant CharcotMarieTooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. HUMAN MOLECULAR GENETICS 22 (7) : 1404 - 1416(2013) PubMed
- Clinical features and disease course of patients with juvenile dermatomyositis. 2013. Gowdie PJ, Allen RC, Kornberg AJ, Akikusa JD. Clinical features and disease course of patients with juvenile dermatomyositis. INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES 16 (5) : 561 - 567(2013)
- High resolution chromosomal microarray in undiagnosed neurological disorders. 2013. Howell KB, Kornberg AJ, Harvey AS, Ryan MM, Mackay MT, Freeman JL, Rodriguez Casero MV, Collins KJ, Hayman M, Mohamed A, Ware TL, Clark D, Bruno DL, Burgess T, Slater H, McGillivray G, Leventer RJ. High resolution chromosomal microarray in undiagnosed neurological disorders. JOURNAL OF PAEDIATRICS AND CHILD HEALTH (2013) PubMed