The Genomic Basis of Spondyloarthropathies in Ireland
Research type
Research Study
Full title
The Genomic Basis of Spondyloarthropathies in Ireland.
IRAS ID
250741
Contact name
Anthony Bjourson
Contact email
Sponsor organisation
Genomics Medicine Ireland
Duration of Study in the UK
8 years, 0 months, 1 days
Research summary
Spondyloarthropathies (SpA) are a family of chronic diseases of joints that includes ankylosing spondylitis, nonradiographic axial Spondyloarthritis, reactive arthritis, psoriatic arthritis, enteropathic arthritis and undifferentiated spondyloarthritis. Ankylosing spondylitis (AS) and non-radiographic axial Spondyloarthritis (nr-AxSpA) predominantly affect the axial skeleton and are characterised by inflammatory back pain, and arthritis of the sacroiliac joints (betweenbase of spine and pelvis) and spine (Sieper and Poddubnyy, 2017). Both are associated with considerable disabilityand diminished quality of life in affected individuals (Sieper and Poddubnyy, 2017; van Tubergen, 2015). AS includes patients who have already developed structural damage in the sacroiliac joints or spine visible on radiographs, whilst nr-AxSpA includes patients with chronic back pain and features suggestive of AS without radiographic evidence of structural damage (Sieper and Poddubnyy, 2017; van Tubergen, 2015).Early signs and of AS or nr-AxSpA include pain and stiffness in the lower back and buttocks. Neck pain and fatigue are also common. As the disease progressesstructural damage to the axial skeleton can occur due to persistent inflammation and osteoproliferation (Taurog et al., 2016). Syndesmophyte formation is characteristic of AS which results in restricted spinal mobility and in severe cases complete fusion of the axial skeleton (Braun and Sieper, 2007; Sieper and Poddubnyy, 2017). This study will examine genetic materials in our blood including DNA, RNA, proteins, serum, and/or plasma in people with this condition.
This genomics study has potential to translate to health improvement for future patients in a number of areas. Specifically, the findings from this study may be used to better diagnose, predict progression and tailor treatment based on a person’s genetic makeup. It may also lead to the identification of new drug targets for the development of novel therapeutics.REC name
London - Riverside Research Ethics Committee
REC reference
18/LO/1390
Date of REC Opinion
6 Aug 2018
REC opinion
Further Information Favourable Opinion