Worster Drought Syndrome: Investigation of Genetic Factors: Version 1
Research type
Research Study
Full title
Worster Drought Syndrome (WDS): To identify a candidate gene responsible for genetic cases of WDS and help clarify the clinical heterogeneity
IRAS ID
138451
Contact name
Maria Clark
Contact email
Sponsor organisation
Great Ormond Street for Children NHS Foundation Trust
Research summary
WDS is a form of cerebral palsy consisting of a congenital pseudobulbar palsy (affecting movements of the tongue, throat, palate and lips) and often additional difficulties with co-ordination, learning, behaviour and epilepsy. It is a devastating and life-long condition that causes major difficulty with feeding and speaking. There appear to be several causes of WDS, but in around 15%, several family members are affected suggesting a genetic cause, with a recurrence rate after one affected child of about 1 in 10. There is currently no genetic test for WDS.
At Great Ormond Street we have a registered database of affected patients (currently including 150 or so patients) and just under a third of these already have DNA samples stored as part of routine clinical care.An extremely small deletion has recently been identified in a patient with WDS (through the CGH) which contains one gene. This patient did not have other affected family members. We would like to look for this deletion other people who have WDS as it may lead to a candidate gene for WDS. We may also examine other genetic factors as revealed by DNA studies. This potentially would provide patients and families with more choice and information about the condition.
We would like to start by using DNA samples that have already been collected from patients with WDS, and also to collect new DNA samples prospectively from new patients presenting to Great Ormond Street Hospital. If this leads to positive results such as finding more cases with the same deletion, we would like to approach other patients with WDS, already known to Great Ormond Street, and invite then to join the study.
REC name
London - Camberwell St Giles Research Ethics Committee
REC reference
13/LO/1548
Date of REC Opinion
31 Oct 2013
REC opinion
Favourable Opinion