Discovering your child has SMA (or any other untreatable, life threatening or life limiting disease) is devastating. Lack of awareness of the condition and no direct government funding means there are few avenues for information, support or equipment for children with SMA.
This fund aims to contribute to the work of other SMA focussed organisations by promoting awareness, evidence-based and practical information about SMA, and importantly, supporting children who are patients of the WCH.
Research in Australia is much less advanced than in the USA, likely due to the greater number of organisations advocating and raising funds for research on SMA, and a much greater population. However a team at the University of WA, headed by Prof. Steve Wilton and A/Prof. Sue Fletcher are investigating various gene therapies.
Current studies include genetic issues; nerve revitalisation, regrowth or stimulation; clinical drug trials to improve symptom management; stem cell research, and interventions aimed at improving the quality of care. Refer to the SMA Registry for more details.
SMA research is difficult and complex, in part due to the complex nature of the condition, and ethical issues regarding the impact of research or trials on minors who may also be quite unwell.
In the absence of adequate clinical trials and good research evidence, key world researchers and clinicians met in 2007 to discuss SMA intervention and care. The result of the meeting was the publication the Consensus Statement for Standard of Care in Spinal Muscular Atrophy. This is essentially a guide to clinical practice based on current clinical experience, rather than a 'prescription' for best practice in treatment and care. The statement highlights the need for care to be individualised to the patient and their families, especially that there is considerable controversy surrounding some types of interventions, especially those around respiratory management, and some differences in clinical practice in Australia and the US.
There are two versions of the Guide; a comprehensive guide for clinicians, and a less descriptive version for families and those with little formal medical or clinical expertise.
These guides can be accessed below:
Wang, Finkle, Bertini et al (2007) Consensus Statement for Standard of Care in Spinal Muscular Atrophy Journal of Child Neurology, Vol. 22, No. 8, August 2007
Explore the various sites below to assist you to identify information most relevant to you.
Australian Organisations
Muscular Dystrophy Association
This site was established to support and provide hope for those with MDA. Different types of dystrophies are described as are fundraising events, research and other activities.
Spinal Muscular Atrophy Association of Australia (SMAAA)
This Victorian based organisation was established to support individuals and families with SMA, to provide equipment, promote awareness about SMA and support research initiatives.
International Organisations
Fight SMA
Fight SMA is an international organisation dedicated to finding effective treatment or a cure for SMA. The site has resources, information regarding research and describes the lobbying Fight SMA and the other US SMA organisations are undertaking to have legislation for stem cell research passed in the US.
Families of SMA
Like Fight SMA and other organisations, FSMA is dedicated to support the Treatment Acceleration Act and support research into finding treatment/cure for SMA. Families of SMA supports families living with SMA, and supports and educates professionals to ensure that those with SMA receive the best available care. Among the booklets produced include the Research Guide for Families.
Muscular Dystrophy Association, USA
MDA is a voluntary health agency in the US that is working towards reducing the impact or eliminating the varied neuromuscular diseases that affect so many people worldwide. MDA supports muscular dystrophies, motor neuron disease (which includes SMA), metabolic disease of the muscule and disease of the peripheral nerve, for example. The website contains a variety of information about the diseases it supports, research activities, blogs, publications, community activites and access to medical care, for example.
National Institute of Neuromuscular Disorders and Stroke
NINDS is one of the National Health Institutes of the US whose role is to reduce the burden of neuromuscular disease. The site includes SMA research in its program. It contains and SMA pages, but includes relevant information such as the role of clinical trials, and how they are conducted. The SMA Project is working to identify drugs already in use that increase the level of SMN protein in cultured cells, which are then used as potential leads for further drug discovery and clinical testing.
Spinal Muscular Atrophy Foundation, NY
The Spinal Muscular Atrophy Foundation is a non-profit organisation which aims to develop involvement beween public and private health sectors, develop industry and academic partnerships and raise awareness at government and community level about SMA, and assist in (US) lobbying the US government to the accelerate the development of treatment options for SMA.
The International SMA Patient Registry
The International SMA Patient Registry was established to connect patients and families with SMA researchers. Those with SMA or their families can provide information about their illness and date of onset, their progress, family history etc to assist researchers to gather data and recruit participants for studies. It is supported by SMA organisations internationally and in the long term, will be an invaluable database for those seeking to find best treatment or a cure. The first issue of BRIDGES, an e-zine about the Registry, which is intended to connect families and researchers, was published Spring 2009.