PURA Syndrome Longitudinal Natural History Study
Research type
Research Study
Full title
The PURA Global Network. Understanding PURA syndrome. PURA Syndrome Longitudinal Natural History Study (a Musketeers Memorandum study).
IRAS ID
217804
Contact name
Diana Baralle
Contact email
Sponsor organisation
University of Southampton
Duration of Study in the UK
30 years, 0 months, 11 days
Research summary
PURA Syndrome was first described in 2014 in a small cohort of children, and since then just over 250 individuals have been identified to have the condition internationally. PURA syndrome typically causes severe developmental delay and intellectual disability. Many also suffer with hypotonia (severe floppiness), feeding difficulties and breathing abnormalities in infancy, and many develop seizures in early childhood. We are designing a longitudinal natural history study, with the aim to collect medical data on individuals with PURA Syndrome. We have designed a series of medical questionnaires that will be accessible internationally via the internet for families and clinicians of individuals with PURA Syndrome to complete. We hope this will improve our understanding of the effects of PURA Syndrome.
This study is eligible for inclusion into the Musketeers Memorandum.
REC name
London - Camden & Kings Cross Research Ethics Committee
REC reference
19/LO/0734
Date of REC Opinion
3 Jun 2019
REC opinion
Favourable Opinion