P-CID
Research type
Research Study
Full title
A prospective outcome study on patients with profound combined immunodeficiency
IRAS ID
110633
Contact name
Sophie Hambleton
Contact email
Sponsor organisation
University Medical Center Freiburg
Research summary
The immune system is a complex network of specialised cells and molecules that together protect us from infection, cancers and other dangers. Gene mutations that block the development of T cells cause extreme vulnerability to infection in babies, known as SCID. A diagnosis of SCID can usually be confirmed by simple tests and is cured by stem cell transplant. But the situation is less clear-cut if T cells are present but don’t work properly. These inborn errors are not obvious until after infancy. They produce complex and often life-threatening immune problems including infections and self-directed inflammation. We have grouped these disorders together under the label ‘profound combined immunodeficiency’ (P-CID).
Even when correctly suspected, it may be difficult to confirm the diagnosis of P-CID by standard tests, and the genetic defect often cannot be identified. At present it is very hard to predict how individual patients will fare over time and what treatment is most appropriate. Although stem cell transplant usually offers the potential of cure, it carries its own risks. This is particularly so in older children who have accumulated multiple infections and end-organ damage.
The current, pan-European study will address this knowledge gap by gathering information on 200 children with P-CID systematically and over time (5 years). The first aim is to describe P-CID, its evolution and response to treatment in a detailed way. Secondly we aim to identify patterns of clinical and laboratory features that predict outcome including response to treatment. It is not a trial, and all treatment decisions will still rest with patients and their clinical team. Our findings will inform future treatment discussions and help research into the genetic causes of P-CID.REC name
North East - Newcastle & North Tyneside 1 Research Ethics Committee
REC reference
13/NE/0212
Date of REC Opinion
5 Nov 2013
REC opinion
Further Information Favourable Opinion