21-03-2017

ALS is a complex neurodegenerative disease with considerable consequences for the patient. Whilst the cause of the disease remains largely unelucidated to this day, we also know very little about those highly motivated researchers dedicated to investigate the origins of the disease, without pomp and circumstance. Who are the torchbearers in the darkness of ALS?
 

Research is the only way forward

By Aldijana Cosic

An important feature of ALS is its wide impact. This is not a one-man disease, since it hugely affects the lives of both, patients as well as their families. Fundamental and clinical research show a steady increase of the knowledge about the disease, but there is still a long way to go. KU Leuven is among the leading institutions in the field, with already some promising results. One of the lead researchers is professor Philip Van Damme from the Department of Neurology at the University Hospital Leuven. He has long been involved in ALS research, investigating mechanisms of motor neuron death already during his PhD study. He combines his clinical work at the hospital with research activities in the Laboratory of Neurobiology (KU Leuven and VIB, Leuven). In this respect, good care for patients represents an equally important aspect of his activities as investigating genetic causes and mechanisms of this dreadful disease.

Your research is pushing the frontiers of the knowledge in this demanding area of science.

ALS remains an enigmatic disease. However, the last decade our understanding of the disease has greatly improved. We now know the identity of the protein that is aggregating in the majority of patients with ALS and we can identify a genetic cause for the disease in about 10% of patients. In general, our knowledge about the disease mechanisms of motor neuron degeneration is too limited to allow us to define robust therapeutic targets. Progress in two areas is required: first, we should identify the cause of the disease in the remaining 90% of patients. Second, we need to understand the pathways that lead to the death of motor neurons.

Considering the research progress made in your lab, when can an effective treatment realistically be expected?

A new therapy for ALS is not for sale. It is not possible to predict how many years it will take and how many research funding is required. For the forms of ALS without known cause, I think no one knows the proper direction. For the genetic forms, several efforts targeting the upstream cause are underway and these efforts could really change the field if successful.

Is making better progress a matter of resources and funding?

Research into neurological disorders in general, and ALS in particular are underfunded. ALS is a rare disease and therefore, it is particularly difficult to obtain funding. In Belgium, only our site focuses on ALS research. More funding could clearly accelerate things, but can only be obtained in competition with research projects on more prevalent disorders.

Would more media attention and information for general public help push forward the research?

The last years, the general knowledge about ALS is increasing, although it is still announced as a muscle disorder in most articles. ALS is a neurodegenerative disorder of the motor system. This means that the nerve cells innervating the muscles die. The result is that our commands from the brain to move muscles do no longer reach the muscle. This results in muscle weakness and wasting. Awareness about the disease is important and can help to improve the funding.

ALS is one of those complex diseases for both patients as well as for care providers. There are no real diagnostic tools that would enable early stage detection and treatment options are limited.

The diagnosis can be a challenge in very early stages of the disease and better diagnostic tests could help. Also better markers of disease progression would greatly improve the quality of the clinical studies in patients. Dealing with ALS is tough, in the first place for patients and their families, but also for the multidisciplinary team providing support for the patients. Research is the only way forward, to improve the situation for patients.

For this reason we try to identify new diagnostic markers and measures of disease progression. For example, we previously showed that FDG-PET imaging can help in making an early diagnosis and we are currently investigating if it can also be used to track disease progression. In addition, neurofilament levels in the cerebrospinal fluid hold promise as diagnostic test for ALS.

Important part of your work is close contact with patients.

Breaking the news to patients is often devastating. Nevertheless it is important to provide information about the disease and its course, but offering support and hope at the same time is equally important. The interval of follow-up is typically 3 months, but can vary a lot, depending on the disease progression.

How do you cope with the emotional aspect of the contact with patients?

It is tough, but motivates me at the same time to keep pushing the research.

It is a disease that affects primarily patients of course, but also their families.

The impact on families is huge. Differences in coping strategies between partners can complicate things. Sometimes the patient still has little children, who have to be informed somehow and supported in the best possible way.

In your experience, do patients have access to the necessary care, so they can cope psychologically, physically, but also financially, which this disease requires.

In Belgium, patients can rely on a social security system that is aware of the rapidly progressive nature of the disease. But it remains complicated, and not all patients have access to it. These patients luckily can get help from the ALS Liga. Refusals for reimbursement of riluzole, or other applications for ALS patients still frustrate me a lot.

Despite the large impact of ALS, it seems difficult to secure the means for research, how to deal with that?

I think the impact of the disease is clear to anyone who has encountered it in a relative or acquaintance. The barriers for getting funding are related to its prevalence and complexity. The whole field of neurodegeneration is struggling with it, and I think it would be a good idea, given the similarities between the different neurodegenerative disorders, to team up with these disorders in the fight for resources.