Development of prognostic epigenetic biomarkers for ALS
Research type
Research Study
Full title
Development of prognostic epigenetic biomarkers for ALS
IRAS ID
174552
Contact name
Magdalena Jeznach
Contact email
Duration of Study in the UK
2 years, 5 months, 28 days
Research summary
Biomarkers are biochemical or imaging tests reflecting underlying disease progression. Improving these in amyotrophic lateral sclerosis (ALS) would lead to a) greater understanding of clinical and biological heterogeneity in ALS, b) the identification of therapies of disease modifying effect and c) the prospective management of patients according to rate of disease progression.
There is increasing evidence that ALS is the result of long-term influences of environmental factors on the genome, specifically epigenetic alterations. Most people with ALS die from respiratory failure, usually within 3 to 5 years from the onset of symptoms. However, this varies from a few months to over 10 years. These differences in disease progression can be linked to epigenetics.
The aim of this project is to clinically validate a diagnostic and prognostic test building on a previously determined initial panel of epigenetic markers. This will enable the stratification of ALS patients with faster vs. slower progressing disease. This will be compared with the clinical measures consisting of the revised ALS Functional Rating Scale (ALSFRS-R) which is used to assess disability, and the forced vital capacity (FVC) which measures respiratory function. These are routinely collected measures in our clinic and have been shown to be valid markers of disease progression in numerous clinical trials.
100 controls will be assessed once at recruitment. 100 patients with ALS will be assessed on 3 occasions (3 monthly intervals). They will be given an anonymised study number and data will be stored on a secure server. A proforma will be used to collect basic demographic data and disease characteristics. The ALSFRS-R and FVC measurements are routinely carried out in clinic, and this data will be recorded without the need for re-testing. 5-10 ml blood will be collected for analysis of epigenetic biomarkers by Oxford Biodynamics Limited.REC name
South West - Cornwall & Plymouth Research Ethics Committee
REC reference
15/SW/0224
Date of REC Opinion
10 Sep 2015
REC opinion
Further Information Favourable Opinion