Clinical · Healthcare · Insights

Diagnosis and Prognosis

Posted on behalf of Karen Pearce, MND Association Director of Care (South)

As I haven’t attended the International Symposium for a number of years, I was really pleased to find myself listening to some really informative presentations and thinking how we can build on some of the work that was being discussed. Michael Benatar, from the University of Miami spoke about the challenges of early therapeutic intervention. This is difficult as there is a period of time when people are pre-symptomatic, and the time from the disease onset to when some form of intervention takes place constitutes a ‘therapeutic delay’. Michael noted that giving treatment such as Riluzole as early in the disease as possible would give more benefits, so somehow the therapeutic delay needs to be shortened. One way, of course, is to ensure family doctors refer quickly to neurologists and I was delighted to hear the Red Flags work noted as a really good tool to support this early referral. It also highlighted the need for diagnostic biomarkers which could both ensure early treatment as well as support GPs in referring swiftly to neurologists. Michael presentation was noted as one of the highlights at the end of the symposium.

We then had a presentation from Sarah Tabrizi from the UK Institute of Neurology, who spoke about the lessons that could be learned from her work on other neurological diseases. Sarah has been looking at Huntingtons Disease, which is an inherited neurological disease. There is a genetic predictability which has resulted in the ability to look at imaging and other investigations to see how this could have relevance across other neurological diseases. Once again, there was reference to early intervention reducing the  functional impact. This really interesting work has now progressed to human studies looking at ‘gene silencing’. Hopefully we will hear more about this in the next few years.

Dr Geevasinga from the University of Sydney spoke to us about the C9orf72 gene which is present in around 60% of familial cases of MND. The study compared  cortical dysfunction of carriers and non carriers of the gene mutation through the threshold tracking transcranial magnetic stimulation (TTTMS) technique. The study has shown that cortical hyperexcitablility appears to be a feature in the gene carrying cohort of people tested through this technique and could therefore act as an identifying factor. There was a question whether the extended use of Riluzole to include all pre- symptomatic patients with cortical hyperexcitability could be beneficial, however when the disease actually switches on isn’t known yet, so long term use of the drug would need to be further researched based on the findings.

Finally Vivian Drory from the University of Tel Aviv, spoke again about the long delay from presentation of symptoms to actual diagnosis and the need for biomarkers which may predict the onset of the disease. The work considered whether routine lab investigations could assist early diagnosis and prognosis. Blood analysis of uric acid, creatinine, creatinine phosphokinase, glucose and HbA1c were undertaken and none of these were predicative of disease onset. However there was some evidence that the increase in CK levels and the decrease in creatinine levels could be useful as biomarkers  for disease progression, and the changes in these levels were probably due to alteration in the muscle mass as MND progressed. The study also showed that the glucose levels at disease onset were a prognostic factor.

Four very interesting sessions, which highlight the need for biomarkers so early interventions can be introduced. It was great to know that our work with the Royal College of General Practitioners on Red Flags has been seen in other countries, and will be shared broadly, supported further by a presentation at the International Alliance earlier in the week.