CDG testing protocol development using dried blood spots
Research type
Research Study
Full title
Adapting the diagnostics of Congenital glycosylation disorders to dried blood spots for population wide testing
IRAS ID
190469
Contact name
Daniel Ungar
Contact email
Sponsor organisation
University of York
Duration of Study in the UK
0 years, 10 months, 29 days
Research summary
Congenital glycosylation disorders (CDGs) are a family of rare inherited diseases that are very difficult to diagnose because clinical symptoms are extremely varied. Biochemical diagnosis is simple, but the most commonly used test is rarely prescribed because doctors would need clinical indications, which are hard to define, for the referral. We would like to establish a new method of CDG testing that would make automated screening of large numbers of potential patients possible. This would remove the need for the difficult clinical diagnosis. Since some subtypes of the disease class are treatable, the improved diagnostic efficiency will lead to improved patient health. Our proposal is to develop the test based on dried blood spots (DBS), as opposed to the currently used serum. DBS are routinely generated for each new-born, and are therefore commonly available for disease testing, while blood for a serum samples is only taken for specific tests that a doctor prescribes. We have already established that we can use DBS generated from healthy volunteers. Now we would like to use DBS containing patient blood to make sure our procedure is indeed useful for distinguishing patients from healthy people.
REC name
East of England - Cambridge South Research Ethics Committee
REC reference
15/EE/0396
Date of REC Opinion
30 Oct 2015
REC opinion
Further Information Favourable Opinion