Latest research - MND Australia

Research Links

ALS Untangled: http://www.wfnals.org/alsu.html

Research update

These quarterly updates are prepared by Dr Justin Yerbury, Bill Gole Postdoctoral MND Research Fellow, supported by funding from MND Victoria.

2010:

March International Research Update

2009:

December International Research Update

September International Research Update

June International Research Update

March International Research Update

Stem Cells and MND

Unproven therapies and the internet

In response to increasing enquiries about Stem Cell therapies being offered in clinics oveseas via the internet MND Australia has produced a paper entitled Unproven therapies and the internet to assist people living with MND to make decsions about unproven therapies. It is recommended that this paper is read in conjunction with the Patient Handbook below and the International ALS/MND Statement on Alternative Therapies.
Australian Stem Cell Centre Publishes Patient Handbook
In response to increasing concerns surrounding the marketing to patients of unregulated and unproven stem cell therapies overseas, the ASCC has published a Patient Information Handbook. The ASCC has identified a clear need to assist individuals in understanding what is involved and to guide them on how to fully investigate these treatments before travelling or participating.
You can find the Handbook at www.stemcellcentre.edu.au

MND research simply explained

The MND Association in the UK has a web page that gives clear and simple explanations about MND research.

IPLEX and MND

MND Associations in Australia have recently received a number of enquiries about the drug IPLEX.

IPLEX continues to be an untested and unproven treatment for ALS/MND. ALSA http://www.alsa.org/ will provide information regarding the protocols and reporting of the trial being conducted in North America.

In the meantime MND Australia cannot encourage or recommend the self importation of this medication. We understand the need for the MND community to be well informed about any potential treatments and will continue to monitor and assess information about IPLEX as it becomes available.

A recent article in the ALS Journal IPLEX and the Telephone Game: The difficulty in separating myth from reality on the internet by Richard S. Bedlack; Vincenzo Silani and Merit Ester Cudkowicz provides an overview of IPLEX and how often misleading information has been distributed about IPLEX via the web.

The International ALS/MND Alliance Statement on Alternative and Unproven Treatments is available here.

If you would like further information about IPLEX please talk to your neurologist.

Another new MND gene discovery (FUS) implicates a common mechanism underlying motor neuron disease.

Mutations have been identified in the gene encoding fused in sarcoma (FUS) in Australian and UK MND families. In addition, a simultaneous paper in the journal Science describes FUS mutations in North American MND families. FUS mutations account for between 3 and 5% of MND families. As such, it is the second most common known cause of MND after SOD1. However, a substantial significance of this discovery lies in the functional similarity of the FUS protein with TDP-43, a protein previously shown to be abnormal in MND. Abnormal TDP-43 pathology is thought to be present in over 90% of all MND cases (sporadic and familial MND combined). In contrast, SOD1 pathology only accounts for about 2% of all MND cases. Until now, the known MND genes (including SOD1, TDP-43 and ANG) had diverse and seemingly unrelated functions. It has been difficult to identify a common defective mechanism underlying motor neuron degeneration. With the discovery of abnormal FUS in MND, a common defective mechanism has been identified. Both FUS and TDP-43 are RNA binding proteins that are thought to process and transport RNA. They both normally reside in the nucleus of the cell. In the affected motor neurons of most MND patients, TDP-43 is shuttled out of the nucleus to the cytoplasm where it forms aggregates. This same process has been found to occur with FUS in MND patients who carry a FUS mutation. Research efforts can now focus on this common defective mechanism to better understand the disease biology and ultimately give insights into new therapies that target that defective process. Development of cell and animal models based upon mutant FUS should help accelerate the search for therapies.

The study, published in the journal Science on 27 February 2009, was made possible by the dedicated cooperation of families with inherited MND both in Australia and the UK. In Australia, this work was supported by the National Health & Medical Research Council and the Peter Stearne Grant for Familial MND from the MND Research Institute of Australia.

Dr Ian P Blair and Professor Garth Nicholson, ANZAC Research Institute, Northcott Neuroscience Laboratory, Concord NSW

A new gene mutation discovery in MND - TDP - 43

Click on the link to read about the discovery in 2008 of the gene mutation TDP - 43

Lithium trials

Interruption of Italian lithium carbonate trial in ALS due to lack of efficacy and serious concerns about toxicity - from the International ALS/MND Alliance