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Biomarker Studies - overview

What are biomarkers?

MND (ALS) research is held back in part by the lack of an early diagnostic test and predictable markers of the progression of the disease - these are called biomarkers.

Patients still wait too long for a certain diagnosis of MND, and it is possible that future drugs may need to be given at much earlier stages to be most effective. Clinical trials currently require lengthy study times to get a clear answer, and don't always account for the variability of the disease between patients. The worldwide MND research community and the MND Association UK are united in their desire to improve this situation:

"We regard this study as extremely important and it is a great opportunity for people with MND to be actively involved with research. With your support this study has the potential to play a pivotal role in the discovery of a biomarker for MND." said the Motor Neuron Disease Association.

Biomarkers might be changes visible on research brain scans, or substances measurable in the blood, spinal fluid or urine. These would need to be specific for MND and change in a predictable way with the type and progression of the disease. The discovery of such biomarkers could change the way that clinical trials are organised, allowing beneficial drugs to be identified more quickly and ineffective drugs to be discounted sooner. It is also hoped that biomarker discovery, by speeding up diagnosis, could allow drugs to be given at a much earlier stage, which might improve their effectiveness. Biomarkers specific for certain patterns of disease spread in MND would permit improved care planning and might further understanding of disease mechanisms, with the potential to provide new drug development targets.

What studies are taking place?

Funded by the Medical Research Council and MNDA's Lady Edith Wolfson Fellowship scheme, The Oxford Study for Biomarkers in MND/ALS ('BioMOx') started in 2008.

Over 10 years it studied more than 100 MND patients (of all disease sub-types, including PLS) every six months. Studies of healthy volunteers and those with other conditions affecting motor nerves on a single occasion were used as a comparison. In this way a unique cohort of people living with MND were carefully followed through their individual disease pathway. This generated some strong candidate biomarkers which are now in further development.

The 'AMBRoSIA' project (A Multicentre Biomarker Resource Strategy in ALS) is an ambitious follow-up, expanding this work to three sites: Oxford, Sheffield and Queen Mary's Hospital London.

Funded by the MNDA using the Ice Bucket Challenge donations we hope to get samples from an even larger number of people living with MND, as they attend their routine clinic appointments.

A new Oxford initiative: Families for the Treatment of Hereditary MND ('FaTHoM') aims to create a forum for the issues facing all of those affected by hereditary forms of MND.

They include genetic testing and exciting new therapeutic trials in which biomarker development will be vital to measure the effectiveness of any future preventative therapies. The MNDA sponsored the first educational event held Oxford in 2017, which involved a series of talks.

The commonest hereditary form of MND (and the related condition FTD) is an expansion in the gene called C9orf72. Funding from NIHR has been used to build up a national C9orf72 Cohort of people living with C9orf72-positive MND, and their healthy siblings and children, who are interested in research participation.

We offer research participation in biomarker studies in Oxford to several groups of volunteers.

  1. People living with MND – those with a firm diagnosis of MND made by a specialist and who feel able to travel to Oxford for the day.
  2. Healthy close relatives of those living with MND (a child or sibling of that person) where the condition runs in the family and there is a known genetic mutation e.g. C9orf72. Importantly, these healthy people would not need to know nor be expected to find out whether or not they are a carrier themselves.
  3. People referred to the Oxford clinic with suspected MND but who do not yet have a firm diagnosis.
  4. Healthy volunteers of similar age to our patients.

It is not expected that all volunteers will necessarily want to complete all the tests available, and some will only be asked to attend on a single occasion. Travel costs are reimbursable. The brain scanning part of the testing may not be suitable for those with any non-removable metal implants e.g. brain or heart coils or clips. There are some exceptions, but these must be discussed with our research team in advance.

There is parking and wheelchair access on site. Some studies take place on the John Radcliffe Hospital site, and others on the nearby Warneford Hospital site.

Further information

If you would like to find out exactly what's involved and see if it's for you, please email the research coordinator Lynn Ossher directly.

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