A multicentre biomarker study in neurodegeneration

AMBRoSIA could be a huge step towards a future without motor neurone disease (MND) – and it needs your support.

This study is actively recruiting – including healthy volunteers to act as controls.

See the recruitment poster (PDF, 620KB)

About the study

Nine-hundred participants living with MND, plus a further 450 healthy participants to compare them with, will take part in AMBRoSIA. Research will take place across three world-class research centres in London, Oxford and Sheffield. The project will take between three to five years to complete.

Our research teams will analyse thousands of samples taken from participants. They will look at how MND progresses in different people. This will help us better understand the various types of MND and how each type affects those living with the disease.

AMBRoSIA could eventually lead us to:

  • A faster process for diagnosing MND.

  • Earlier access to treatment, improving the prognosis for many patients.

  • Better understanding of the various types of MND and their speed of progression, meaning we can help patients according to their individual needs.

  • New drugs testing according to different causes of MND, leading to bespoke approaches to treatment.

  • Ultimately, advances made from AMBRoSIA may even let us begin working towards developing preventative treatments for MND.

What are biomarkers?

Biomarkers are the 'fingerprints' of MND, chemical signals unique to the disease. We will analyse thousands of blood, cerebrospinal fluid and skin samples from each of our participants and monitor the progress of their disease every three months.

Finding the biomarkers unique to MND will make testing the effect of drugs and treatments much more accurate. In the future, these biomarkers may be critical in our search for a cure.

UK Chief Investigator

Professor Martin Turner

Research summary

The purpose of this study is to investigate possible causes of damage to motor nerves in motor system disorders, in particular MND, and to find biological markers (biomarkers) of disease activity. We aim to obtain blood, cerebrospinal fluid, urine, and small skin samples from people with MND, people with other neurological conditions including disorders that mimic some of the symptoms of MND, and people who are neurologically healthy.

We will then analyse these samples to look for genes and other biomarkers that can tell the difference between people with MND versus people without any neurological disorder, as well as between people with MND versus people with other disorders. We will also look for genes and other biomarkers that can predict how different symptoms will develop and how quickly this will happen.

Identification of biomarkers that allow us to measure disease activity in MND and other neurological conditions can help speed up diagnosis, better predict how someone's symptoms will progress, better plan clinical trials of new treatments, and help understand the underlying causes of MND, related conditions, and other neurological disorders. Eventually, all of this knowledge may contribute towards the development of new treatments.

This is planned to be a five-year cross-sectional and longitudinal cohort multimodal neurochemical and genetic study.

Clinical assessments at each visit (patients with MND and other neurological conditions only): Neurological examination, disability scoring (including ALSFRS-R), and cognitive screening.

Potential study procedures at each visit:

  • Urine sample

  • Skin sample

  • Blood sample

  • CSF sample

Participants will be invited to participate in one or more of the above procedures, and then given the opportunity to elect which procedure(s) they would like to take part in. All samples will be anonymised prior to storage but linked via a unique identifying code to a database so that they can be linked with the clinical data. Patients with other neurological conditions (disease controls), family members of patients with MND, and neurologically healthy controls will only be invited to participate in the procedures once.

Patients with MND will be offered participation in the longitudinal study, involving collection of biosamples on one or more occasions. The timings are based on the routine follow-up frequency of these patients, and wherever possible visits will be scheduled to coincide with patients' routine clinical follow-up appointments to avoid additional inconvenience to the participants.

  • Skin biopsy at a single time-point only.

  • Blood sample every 3–6 months depending on progression rate, up to 12 samples.

  • Urine sample every 3–6 months depending on progression rate, up to 12 samples.

  • CSF sample every 3–6 months depending on progression rate, up to 3 samples.

Patients with MND are not obliged or asked to commit at enrolment to ongoing sample donations; they may choose to opt-in or opt-out of subsequent donations at any time.

Should a participant with an unknown diagnosis turn out to be given a diagnosis of MND and subsequently be included in the MND group, they may also opt-in or opt-out of subsequent donations at any time, provided they have indicated their willingness to consider donating further samples on their informed consent form. The above numbers of samples are the maximum an individual may be asked to provide.

Inclusion / exclusion criteria

Inclusion criteria

For all participants:

  • Aged 18 and over.

  • Participant is willing and able to give informed consent for participation in the study, or an appropriate consultee can be identified to provide advice about his/her friend or relative's inclusion in the study. If the participant is unable to provide written consent due to physical disability, an independent witness will be present at the informed consent discussion and sign the consent form on the participant's behalf.

Additional criterion for patients with MND only:

Diagnosis made by experienced neurologist.

Additional criterion for family members of patients with MND only:

Known to have an MND gene mutation, or is a relative of an affected MND or FTD patient.

Additional criterion for patients with other neurological conditions only:

Diagnosis by a neurologist of another neurological condition, for example, Kennedy's disease, multifocal motor neuropathy, motor CIDP, HSP, adrenomyeloneuropathy, other neurodegenerative conditions.

Exclusion criteria

The participant may not enter the study if ANY of the following apply:

  • Under 18 years of age.

  • Pregnancy or any other condition that in the opinion of the investigator could interfere with the interpretation of the study results.

In addition to the general inclusion / exclusion criteria described above, the additional exclusion criteria apply for invasive procedures (skin biopsy and lumbar puncture):

Significant bleeding diathesis or sepsis, or other condition that in the opinion of the investigator could constitute a health risk to the participant if he/she took part in this element of the study.

Current status

Active – recruiting


  • Basildon

  • London (Royal London Hospital)

  • London (UCL/National Hospital for Neurology and Neurosurgery)

  • Oxford

  • Sheffield

Information about study sites

Recruitment group(s)

  1. Patients with MND

  2. Family members of patients with MND (including pre-symptomatic gene carriers)

  3. Patients with other neurological conditions (disease controls)

  4. Neurologically healthy volunteers

Recruitment target(s)

The maximum targets are:

  • 900 MND patients

  • 450 controls (disease controls, family members and neurologically healthy controls)

  • Total 1,350 study participants

Key dates

Actual opening date: 1 June 2017

Recruitment planned end date: 14 December 2021


University of Oxford

Study design

Cohort observational

Intervention (if applicable)

Not applicable

Phase (if applicable)

Not applicable

Outcome measures

Serum, CSF, skin, and urine samples, and supporting clinical and genetic data from MND patients, those with other neurological disorders, and healthy volunteers. Samples and data collected over time from MND patients.

Publications / Results reports

Links will be provided when papers are published.