Queen Square Centre for Neuromuscular Diseases



Characterisation of a panel of disease biomarkers in peripheral blood from individuals with motor neuron disease

Sponsor University College London Hospitals NHS Foundation Trust
Funder Motor Neurone Disease Association
CI Dr Richard Orrell
UK sites London Queen square
Contact details r.orrell@ucl.ac.uk


MND is an adult-onset neurodegenerative diseases and one of the commonest neuromuscular disorders.

MND can develop with different clinical elements and progresses at different rates among individuals. Currently, there are no blood tests that could help us predict:

  • the disease progression rate
  • the likely clinical features (e.g. predominant involvement of speech and swallowing or of the limb muscles)

Study information

We are testing specific disease biomarkers in the blood. To assess change over time, a blood sample is taken every 3 months. We are studying a range of blood constituents including proteins, DNA and RNA.

From some participants we also collect samples of cerebrospinal fluid. If repeated samples are not possible, a single sample of blood for DNA studies is also helpful.

We also examine control samples from:

  • participants without MND
  • individuals with similar but unrelated neuromuscular conditions.

Parallel studies of biomarkers in an animal model of MND are informing our choice of biomarkers. The study is in collaboration with Queen Mary University of London, and other participating centres.