The Natural History of Ataxia-Telangiectasia
Research type
Research Study
Full title
The Natural History of Ataxia-Telangiectasia
IRAS ID
207875
Contact name
William Whitehouse
Contact email
Sponsor organisation
University of Nottingham
Duration of Study in the UK
2 years, 8 months, 9 days
Research summary
The aim of this natural history study is to investigate the course and progression of Ataxia-Telangiectasia (A-T), a multi-system, life-shortening, neurodegenerative disease. A-T is such a rare disease that little has been published on its natural history. The national multidisciplinary clinic for children with A-T takes place at Nottingham University Hospitals. There are data available from 2001 onwards relating to the condition and its impact on patients. We will collate the data along with data from Papworth (Cambridgeshire, UK) where adults with A-T are followed-up. We aim to accurately map the course of A-T from childhood to adulthood including determining the age-dependent timing and sequence of neurological, immunological, nutritional and respiratory deterioration, to recognise different patterns of disease in different patients, understand the variations in the course and pace of the disease, understand risk factors for the development of complications and identify how these relate to particular genetic mutations in the ATM gene which is mutated in A-T. Overall it is hoped the research will help us to nip complications in the bud early, to keep one step ahead and identify areas on which to focus future research and therapies. Discussion with patients and parents using focus groups will help with identification of areas of primary importance and ensure the outcomes of the research are meaningful to the children and families affected by this devastating condition.
(226 words)REC name
East Midlands - Nottingham 2 Research Ethics Committee
REC reference
17/EM/0012
Date of REC Opinion
16 Mar 2017
REC opinion
Further Information Favourable Opinion