Latest research

Research Links

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

Mito Target: http://www.mitotarget.eu/en/

Clinical Trials

Phase 3 Study of Dexpramipexole in ALS/MND

Dexpramipexole (formally known as KNS-760704) is a newly synthesised drug created by Knopp Neuroscience Inc. Although it is not currently known how this drug works in the body, laboratory studies have demonstrated that this drug has neuroprotective properties. A phase II trial of KNS-760704, completed in 2009, found that the drug was safe and well tolerated by people with MND for up to 9 months. The trial results also showed trends suggesting the drug's potential for reducing the rate of decline in patients' functional capability, although the relatively small numbers of people involved in the study means that these findings cannot be relied upon.

During 2011 recruitment took place for a phase three study of the drug dexpramipexole at 61 study locations in the United States, Europe and Australia. The purpose of this study is to determine whether dexpramipexole (150 mg twice daily) is safe and effective in the treatment of ALS/MND.

This is the first time that an international phase three clinical trial has included Australian sites. This development is testament to the work of Australian clinicians in collaborating and engaging with their international peers.

The trial is spread over 61 sites so only a relatively small number of people have been recruited to the trial in Australia. In addition there are very strict inclusion and exclusion criteria. These are specified on the website link below.

The trial is a randomised, double blind, placebo-controlled study which means that half of the participants will be given a placebo (not the drug) and half will be given the drug. All involved will be ‘blind’ as to whether the participant is taking the placebo or the dexpramipexole.

The research sites in Australia are the MND Clinics at:

Bethlehem Hospital, Caulfield South, Melbourne
The Royal Brisbane and Women’s Hospital, Herston, Brisbane
The Prince of Wales Hospital, Randwick, Sydney
St Josephs/Westmead Hospital, Westmead, Sydney

Click here for more information and updates.

The US National Institute of Health Clinical Trial website lists 501 ALS/MND studies that have been completed, are currently recruiting or are pending.

Research updates

Research updates from September 2010 available in Research News

Stem Cells and MND

Unproven therapies and the internet

In response to increasing enquiries about Stem Cell therapies being offered in clinics via the internet MND Australia has produced a paper entitled Unproven Therapies and the Internet to assist people living with MND to make decisions 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.

Stem Cells Australia

Stem Cells Australia brings together Australia's premier life scientists to tackle the big questions in stem cell science. The Information for Patients page on the website provides useful information on stem cells including a link to the ASCC and the ISSCR Patient Information Handbooks. These handbooks were developed in response to increasing concerns surrounding the marketing to patients of unregulated and unproven stem cell therapies. The ASCC 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.

MND research simply explained

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

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

IPLEX and MND

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