Natural History of Ataxia-telangiectasia (N-HAT)
This is a 3 year PhD project based in the School of Medicine, University of Nottingham. The supervisors are Dr William P Whitehouse, Clinical Associate Professor and Consultant Paediatric Neurologist1; Dr Jayesh Bhatt, Consultant in Paediatric Respiratory Medicine2; and Dr Laila Tata, Associate Professor in Medical Statistics3.
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.
However, the UK multidisciplinary clinic for children with A-T takes place at Nottingham University Hospitals. So we have data relating to the condition and its impact on patients, from 2001 onwards. In this study, we will collate the data, along with data from Papworth Hospital (Cambridgeshire, UK) where adults with A-T are followed-up. This is a retrospective combined cross-sectional and longitudinal observational study. A pilot, just analysing neurological data in children has now been published4.
In this way 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. We will also 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 that what we learn from the research will help us to nip complications in the bud early, keep one step ahead of the disease, 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.
We now plan to start in February 2018.
References
1. https://www.nottingham.ac.uk/medicine/people/william.whitehouse
2. https://www.nuh.nhs.uk/our-services/nottingham-children%27s-hospital/our-services/children%27s-respiratory-service/doctors/
3. https://www.nottingham.ac.uk/medicine/people/laila.tata
4. Jackson TJ et al. Longitudinal analysis of the neurological features of Ataxia Telangiectasia. Dev Med & Child Neurol 2016; 58: 690-697. DOI: 10.1111/dmcn.13052.
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