The DESMA Study
Research type
Research Study
Full title
An observational, pilot study investigating levels of circulating Desmosine in plasma and urine of Marfan Syndrome patients. The DESMA Study.
IRAS ID
190509
Contact name
Anna Maria Choy
Contact email
Sponsor organisation
University of Dundee/NHS Tayside
Duration of Study in the UK
0 years, 4 months, 0 days
Research summary
This is a pilot non-interventional, cross-sectional, observational study looking at patients with Marfan Syndrome (MFS) versus age/sex matched healthy volunteers. MFS is a genetic condition of human connective tissue, affecting both males and females. It has widespread systemic involvement causing defects in many parts of the body for example skeletal, ocular and cardiovascular systems. This disorder is caused by mutations in the FBN1 gene, responsible for the production of a protein called Fibrillin-1. This protein is required for the formation of connective tissue, which act as scaffolding, holding together all the body's cells, organs and tissues.
The primary objective of this study is to investigate whether patients with MFS have a higher Desmosine concentration in plasma and urine compared to age and gender matched healthy volunteers and whether the levels correlate to disease severity. Secondly to investigate if higher concentrations of Desmosine in plasma and urine in MFS patients correlates to their clinical outcome. The usual method of detection for the disease progression and severity for MFS patients is imaging (ultrasound/echocardiogram/MRI) however, some degree of the disorder may still be present but not detectable by this method. The clinical utility of plasma and urinary Desmosine as a potential biomarker (compounds found in blood) in MFS warrants investigation as it may prove to be a valuable tool in screening patients who are at high risk of developing complications and to detect disease severity and progression.
This study is comprised of one study visit lasting up to approximately 1 hour. Patients who agree to take part will be asked to attend for their study visit at Ninewells Hospital and Medical School (NHS Tayside), provide one blood and urine sample, allow us to perform an ECG, measure their height/weight and blood pressure.REC name
East Midlands - Leicester Central Research Ethics Committee
REC reference
15/EM/0465
Date of REC Opinion
23 Oct 2015
REC opinion
Further Information Favourable Opinion