In November 2021 the Foundation awarded a gift of £210,000 (£70,000 per year for three years) to the University of Oxford for the Making MND Preventable research project. The funds will allow them to recruit a skilled Project Manager and cover the initial start-up costs needed to establish the national UK cohort of ‘at risk’ individuals. Establishing a cohort of this kind is very difficult to fund via conventional grant schemes. Philanthropic support will therefore be transformational.
The average delay from first symptom to diagnosis in motor neuron disease is one year, regardless of access to healthcare. This is because the symptoms develop insidiously, and in the early phase can be very similar to other conditions. The nervous system can lose significant reserve capacity before function is affected, meaning that damage has been in progress ‘silently’ for some time, even for many years, before weakness is evident. Once the connections in the nervous system that facilitate movement have been broken there are currently no realistic prospects for rebuilding these to restore function. The best that can be expected from potential treatments in development is that we might be able to slow the disease down, but there is acknowledgment that MND might be fundamentally impossible to cure outright once it has started.
Oxford’s team have already established some promising approaches to treatment in patients with established disease. Their aim is to now identify people at risk of MND before the clinical manifestations occur, so that treatments can be applied at a point when they are much more likely to be effective and disability can therefore be prevented. In this way MND could become preventable through screening, like heart disease, stroke and some forms of cancer.
About 10% of patients with MND carry a genetic mutation. This allows the University of Oxford to enlist their first-degree relatives (siblings and children) to help in their research. Each relative will have a 50% chance of carrying the genetic error that leads to MND. The University of Oxford can therefore study their nervous system (using sophisticated MRI and other scanning, blood and spinal fluid profiling) to pick up the very earliest signals of the disease. The ultimate aim is to produce a blood test that could be used in general practice to screen for the silent damage occurring in the early phase of MND.
The University of Oxford has already recruited a cohort of 40 subjects from our own clinic. They now wish to expand this to build a national UK cohort of ‘at risk’ individuals who can contribute to their research into making MND preventable. In order to link in with the established network of MND clinics around the UK and build the database of people at risk of MND, they need to employ a Project Manager for three years. This position will set up the processes for recruitment, consents and work to establish the cohort. Based on the incidence of MND they will be able to recruit 300-400 subjects over five years, commencing once the systems are in place for recruiting. These people will have consented to be accessible to researchers for studies. A cohort of this kind, linking in with the established MND network, will be unique, and once the cohort is in place, major research funding in the region of £5 million will also be sought. The University of Oxford fully expects the ongoing research propositions and opportunities to be of great interest to research funders.
Prof Kevin Talbot said ” I remember Alan so fondly. He was an exceptional individual who had achieved great things in his life. He is someone we all still remember very vividly. As a physician I have learned a lot from my patients and to be comfortable with being challenged about why it is so difficult to treat motor neuron disease. I am very glad that Alan’s enquiring mind lives on in the Foundation’s commitment to MND research.”
