Rett Syndrome Registry for the UK (RSRUK)
Research type
Research Database
IRAS ID
177047
Contact name
Angus Clarke
Contact email
Research summary
Rett Syndrome Registry for the UK (RSRUK)
REC name
Wales REC 3
REC reference
15/WA/0229
Date of REC Opinion
9 Jul 2015
REC opinion
Favourable Opinion
Data collection arrangements
We will collect and store information about the clinical features of children and adults affected by Rett syndrome and other, related disorders. We will also record information about any genetic factor identified as the cause of their condition. In addition, we will record the decision made by each patient's family or advocate or representative as to whether or not they would be willing to be contacted in the future either to update these records or to be sent information about other research projects or clinical trials that might be of potential interest and relevance to them.
Research programme
This registry will be available to the Rett syndrome clinical community in the UK as a potential route to ascertain and recruit appropriate cases for research projects or clinical trials. Anonymised data from the registry will also be shared with collaborating international researchers where pooling data from large numbers of patients may be helpful in defining the clinical features of Rett syndrome and the contribution of specific factors to this (e.g. the relative effects of different mutations in the MECP2 gene or other relevant genes, such as CDKL5 and FOXG1).
Research database title
Rett Syndrome Registry for the UK (RSRUK)
Establishment organisation
Cardiff University
Establishment organisation address
Park Place
Cardiff
CF10 3AT