Understanding the patient and disease process

We have three programmes looking to understand MND in detail.

(i) MND Register and biobank

Two MND Registers record everyone with MND in the country, one the Scottish population, the other the rest of the UK. Along with clinical information, we collect blood samples and a system to let us link people’s results across studies with their permission. Because not everyone will be able to have a sample taken in clinic, we are developing a remote sample collection system, so that a simple blood spot can be provided at home and mailed back to our laboratories.

What we gain from this:

The samples provide DNA for genomics, proteins for biomarker studies, and other types of biological molecules we can study. The clinical information can be combined with the laboratory knowledge to increase our understanding of why MND happens, what affects how it develops, and how we might be able to slow it down or stop it.

Understanding the MND patient and disease process

(ii) Telehealth in Medicine (TiM) – Research

People we see in clinic often tell us about their lifestyle or exposures they have had, that they think might be important for their motor neuron disease. To collect this information in detail, we are developing an app that will let researchers send questionnaires to people living with motor neuron disease to answer in their own time.

What we gain from this:

The answers can help us monitor MND progression in large numbers of people, which tells us about the “natural history” of the condition. This knowledge is crucial for the design of clinical trials for example. We can also study the responses for patterns that might reveal environmental or lifestyle risks that affect whether someone develops MND or not.

(iii) Trajectories of Outcomes in Neurological Conditions (TONiC)

Based in our Liverpool centre, the TONiC study recruits people nationally to complete questionnaires, and has already had an impact on MND research. For example, a very commonly used assessment in clinic and in trials is the ALS Functional Rating Scale (ALSFRS-R). While this is useful for understanding how MND is impacting someone in clinic, it is less useful in clinical trials because of the way it is built. The score is out of 48, and points are lost with loss of abilities, but a single point can mean different things, depending on what function was affected. That means two people with scores of say 38, can be very different. Recently, the TONiC team have used mathematical and statistical tools to fix that problem, which will help clinical trials in MND worldwide.

What we gain from this:

There are many assessments used in MND, and knowing which are the best is crucial if we want to develop new treatments that target the problems people face.