Prospective study of neurological biomarkers (ProSNeB)
Research type
Research Study
Full title
A prospective study of blood and urine biomarker candidates in patients referred to the Oxford Motor Nerve Disorders Clinic
IRAS ID
270526
Contact name
Martin Turner
Contact email
Sponsor organisation
University of Oxford / Clinical Trials and Research Governance
Duration of Study in the UK
1 years, 11 months, 31 days
Research summary
‘Research ‘Summary’
The purpose of this study is to better understand motor system disorders by establishing easily-accessible biological markers for these conditions. In particular, this study is focused on motor neuron disease (MND, also known as amyotrophic lateral sclerosis or ALS) and other conditions that may have some similar symptoms. At present there is no specific test that can diagnose MND versus a condition causing similar symptoms, so the diagnosis depends on the recognition of typical features by those doctors used to seeing these types of conditions. This can sometimes cause a significant delay in diagnosis. There is also currently no effective treatment or cure for MND, and it can take many months to establish whether or not new drugs are working due to a lack of markers of disease activity. We think that biological markers (biomarkers) can be identified in blood and urine to improve the diagnostic process in MND and related conditions, improve our understanding of subgroups of patients, and improve our ability to monitor how people respond to future treatments. In this study, we will test promising candidate biomarkers in newly referred patients. These biomarkers include, for example, markers of nerve cell loss such as blood neurofilament light chain or urinary p75ECD levels. We will analyse and evaluate the usefulness of these biomarkers in aiding diagnosis and monitoring in these patients.
‘Summary of Results’
Researchers are looking for reliable blood tests (“biomarkers”) that can help diagnose amyotrophic lateral sclerosis (ALS), also known as motor neurone disease. One promising biomarker is neurofilament light chain (NfL), a protein released into the blood when nerve cells are damaged. Because ALS can affect people in different ways and progress at different speeds, any useful biomarker must work across a wide range of symptoms and disease patterns.This study examined whether blood levels of NfL could help doctors diagnose ALS in a real-world specialist clinic, where patients often have symptoms that may overlap with other neurological conditions. Blood samples were taken from 133 people referred to a specialist ALS clinic, and doctors recorded their initial diagnosis before seeing the test results.
People diagnosed with ALS generally had much higher NfL levels than those with other conditions or with primary lateral sclerosis, a related but slower-progressing disease. Patients whose diagnosis was initially uncertain but later confirmed as ALS also tended to have higher NfL levels.
The researchers found that high NfL levels strongly supported a diagnosis of ALS. However, low levels were less useful because they could not reliably rule ALS out. This means that the test works best as an additional tool to support a doctor’s clinical judgement, rather than as a stand-alone diagnostic test.
The study concludes that the greatest current value of NfL may not be in diagnosing ALS itself, but in helping measure how active or fast-progressing the disease is. This could make it especially useful for monitoring patients and for testing new treatments in clinical trials.
REC name
Wales REC 7
REC reference
20/WA/0027
Date of REC Opinion
27 Jan 2020
REC opinion
Favourable Opinion