MND research update by Professor Pamela McCombe

At Royal Brisbane Hospital we have a large Motor Neurone Disease Clinic that is very active in research. This Clinic is connected with Scientists at the University of Queensland. Under the supervision of Dr Rob Henderson the Clinic conducts many clinical trials.

In this article I would like to mention three projects conducted at the Motor Neurone Disease Clinic. The first project concerns trying to identify factors that influence the age of onset of disease and the duration of survival for MND patients. To do this we collect data from our patients. We collect the age of onset, the sex of the patient, whether there is a family history, the type of disease and the site of onset whether in the upper limbs, lower limbs or bulbar region. From this we can perform analysis. So far with Dr Robert Nona (who is a PhD student) we have conducted an analysis that shows that, as expected, MND in our Clinic is more common in males than in females. We have shown that the age of onset is less in males than in females, that bulbar onset is more common in females than in males and that there is a difference in survival between males and females. This work has been accepted for publication in the journal Neurodegenerative Diseases and should appear soon. This study provides a basis for our more detailed future analysis.

Going forward we will try to identify other simple measurements that can be used to predict the rate of progression of the disease. This includes measurements of breathing function and also simple blood tests that are obtained routinely including measurements of uric acid, creatine and creatine kinase. In addition we have genetic testing on a substantial portion of our patients and will be able to incorporate that. We also have information about cognitive function in a substantial proportion of our patients and have shown that patients with cognitive involvement have shorter survival. This appears to be because in patients with cognitive involvement the disease affects other parts of the brain than the motor system. We anticipate performing a detailed analysis towards the end of this year.

Another part of our work concerns investigating toxic molecules in the blood of patients with Motor Neurone Disease. Dr Avan Lee who is a Research Scientist has developed a technique to measure small toxic molecules using mass spectrometry. With this type of measurement we have been able to detect some small molecules in the blood. These molecules are known to be toxic to nerve fibres. So far we have identified formaldehyde, D-serine and other similar molecules. The source of these molecules is yet to be determined but one possibility is that these molecules enter the blood from bacteria in the gut. This is a very exciting project because it provides information about another possible factor that could lead to the development of Motor Neurone Disease. It is known that for Motor Neurone Disease, like other diseases, there are genetic factors and also non-genetic factors that can lead to disease and these toxic molecules are another possible explanation.

Finally we are preparing to look at abnormal molecules in the breath of patients with MND and healthy controls. The air that is expired contains chemicals that are produced from the blood and enter the lungs. Preliminary tests overseas have identified some abnormal molecules in the breath of patients with MND. We will test this in our patients using a device called an electronic nose. Patterns of abnormal molecules in the breath could relate to metabolic changes in patients with MND and provide another clue to the pathology. This project will be carried out by Dr Nona.

We are very grateful to all our patients who participate in research studies and hope to bring these proposed studies to conclusion in the next couple of years.

Pictured: MND Queensland Vice-Patron, Professor Pamela McCombe