Sirolimus Treatment for PIK3CA Related Overgrowth (PROMISE)
Research type
Research Study
Full title
A Non-Randomised, Open Label, Pilot Trial of Sirolimus Therapy for Segmental Overgrowth Due to PIK3CA Related Overgrowth
IRAS ID
144221
Contact name
Robert Semple
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge
Eudract number
2014-000484-41
Duration of Study in the UK
1 years, 0 months, 1 days
Research summary
Segmental overgrowth describes a condition where there is an excess of growth in different parts of the body, but normal growth elsewhere. Progressive overgrowth can lead to significant complications and functional impairment, and at present the only available treatment is surgical removal of overgrown tissue. A subset of segmental overgrowth disorders have been found to be caused by activating mutations in phosphatidylinositol-3-Kinase (PI3K), which causes a key growth signal (mTOR) to be switched on all of the time. This finding has opened up the possibility of treatments for participants with drugs which inhibit PI3K and mTOR and switch off these growth signals.
As participants have highly variable clinical presentations, and there are no established evidence based methodologies for measuring serial changes in overgrowth, the aim of this pilot trial is to determine the effect size of sirolimus treatment, and to establish the best methodology for evaluating growth to inform the design of a future randomised controlled trial.REC name
East of England - Cambridgeshire and Hertfordshire Research Ethics Committee
REC reference
15/EE/0319
Date of REC Opinion
4 Nov 2015
REC opinion
Further Information Favourable Opinion