Information for researchers

Motor neuron disease (MND, ALS) is a terminal disease in which the nerve supply to the muscles dies. This results in progressive paralysis and leads to respiratory failure around 2–5 years after symptom onset¹.

The lifetime risk is around 1 in 300 with the average age of onset at 56 years. In 10% of cases there is a family history of disease, but for the remaining 90% of cases there was until recently, no obvious cause. We now know that for up to 14% of people with no family history, genetic variation increases the risk of MND or causes it. In some cases, there is overlap with other neurodegenerative diseases such as dementia or Parkinson’s disease.

Research shows that the overall number of people diagnosed with MND in the UK is expected to increase significantly from 1415 cases in 2010 to 1701 in 2020 and 2635 in 2116 ².

Registries capturing clinical data are a useful source of information for researchers studying natural history, phenotype and prognosis ³.They can also serve as a useful source of data for the development of new research tools such as disability scales and can inform resource allocation.

Population registers aim to capture every patient with a specified disease within a defined geographical area, but typically retain far less detailed information since data entry will inevitably depend on individuals with less interest in the condition.

Across the UK there are five regional population registers for MND: the South East ALS (SEALS) Register, Peninsula Network, South Wales Register, Northern Ireland register, and MND Care in Scotland. Current estimates suggest there are 5,000 people living with MND in the UK at any one time, but whether this is the true figure and how people with MND are geographically distributed is not known.

Having a national MND Register for patients living in England, Wales and Northern Ireland will calculate the incidence and prevalence of the disease across these three regions, improve care provision, examine regional differences in survival, and reveal clusters across these areas.

A national register will also allow the correct modelling of epidemiological variables, for example, the development of a mathematical model of MND. Such models can inform future studies, drug discovery and knowledge of pathogenesis of the disease.

In 2015 we received ethical approval for the MND Register (REC ref 15/LO/0810) and set-up a national Register for England, Wales and Northern Ireland. Since the development of the MND Register the project successfully mapped catchment areas where patients receive care, developed an MS Access template database which captures and transfers data from recruiting centres, and recruited 1,766 patients face-to-face across 32 centres in England and Wales. We received complete data capture from six recruiting centres which enabled us to calculate incidence of MND in these areas.

Over the past five years it has been difficult to meet our primary objective of obtaining the incidence and prevalence of MND across England, Wales and Northern Ireland as data has been incomplete and we have not been able to count each person with MND in each of these areas. We are therefore seeking to apply for Section 251 of the NHS Act 2006 to allow us to obtain complete identifiable patient data without seeking consent and move to an opt-out system. Under this approval we would receive complete data from recruiting centres, to meet our remaining objectives we plan to link data to Hospital Episode Statistics (HES), and Office of National Statistics (ONS) data which will answer survival differences by region and health service utilisation. To improve patient care planning we will use the data to answer some of the NICE MND Audit questions.

In recent years it has become clear that ALS is a complex disease that is caused and shaped by genetic and environmental factors. The MND Register is set up to collect clinical and healthcare systems data, in parallel other research studies have collected genetic, environmental and patient report outcome measure data. No single study has the resource to collect the complex array of data that is necessary to understand the disease and participants may be enrolled in more than one study. Other than people who opt-out of the MND Register, all people with a confirmed diagnosis of MND should be present in the MND Register database, which means it is in an ideal position to act as a central repository for research data in MND. The benefit of doing this is that:

• Data between studies can be standardised
• Research participation in MND can be understood
• Research findings can be generalised to the whole population
• Data completeness for the MND Register and for linked research studies will be improved
• Research questions involving complex, mixed datasets can be analysed

An example of such a study is the AMBROSIA and ALS Biomarkers projects. Since 2015, AMROSIA has collected biomarker data about people with MND and ALS Biomarkers is being set up for remote data collection.