Transition care for Silver-Russell and Temple syndrome
Research type
Research Study
Full title
Building knowledge for transition and care into adulthood for patients with Silver-Russell and Temple Syndrome (IDMetAd)
IRAS ID
349408
Contact name
Justin Davies
Contact email
Clinicaltrials.gov Identifier
24/PR/1240, REC reference number; PR committee, REC committee; 31/12/2024, Date of meeting
Duration of Study in the UK
2 years, 0 months, 0 days
Research summary
This proposal focuses on two imprinting disorders, Silver-Russell Syndrome (SRS) and Temple Syndrome (TS), both affecting pre- and postnatal growth and exposing to
metabolic disturbances. The phenotype of SRS and TS patients is well described in children but not during adulthood. Since most adults with SRS and TS are not routinely followed, there is little information regarding the natural history of SRS and TS and the metabolic risks. The aim of this project is to build a cohort of SRS and TS patients for better transition and care in adulthood at a European level. Seven EU expert investigators in SRS and TS will join their efforts to identify a cohort of 100 adolescents and adults with a confirmed molecular diagnosis of SRS or TS. Each of the centres involved will recruit around 25 participants with SRS and TS patients of 16 years and older. Centralised serum and DNA banking will be organised in France to perform future ancillary studies. In this cohort we will collect clinical information as part of standard of care and assess the quality of life using questionnaires. The ultimate goal of this project will be to build European guidelines for transition of care for SRS and TS patients together with their management during adulthood and optimization of their care during childhood for a better outcome during adulthood.REC name
South Central - Hampshire A Research Ethics Committee
REC reference
24/SC/0357
Date of REC Opinion
18 Dec 2024
REC opinion
Further Information Favourable Opinion