Ataxia-Telangiectasia (A-T) is a rare, life shortening autosomal recessive multisystem disease, due to mutations in ATM, a kinase involved in many different cell functions, particularly in double strand DNA repair, and cell responses to oxidative stress.
There are no specific treatments although there have been a number of small trials and a phase 3 pivotal multicentre international, pharma sponsored trial of the EryDex system (monthly infusions of autologous red cells loaded with dexamethasone): "ATTeST" (aka "IEDAT"), is due to start within a few months.
As we have held the National UK A-T clinic for children in Nottingham for over 15 years we have received funding from a charity to undertake a retrospective, cross-sectional and longitudinal natural history study of A-T (N-HAT) as a PhD study. At the funder's request part of this work will include the development of an initial Core Outcome Set.
Dr Emily Petley, PhD student (School of Medicine, Nottingham UK)
Dr Shalini Ojha principal supervisor (School of Medicine, Nottingham UK)
Dr William Whitehouse co-supervisor (School of Medicine, Nottingham UK)
Disease Category: Child health
Disease Name: Ataxia-Telangiectasia (A-T)
Age Range: 0 - 100
Sex: Either
Nature of Intervention: Drug
- Charities
- Clinical experts
- Conference participants
- Consumers (caregivers)
- Consumers (patients)
- Families
- Patient/ support group representatives
- Regulatory agency representatives
- Researchers
- Service commissioners
- Service users
- Statisticians
- COS for clinical trials or clinical research
- Consensus conference
- Delphi process
- Focus group(s)
- Literature review
- Systematic review
Also: Natural History Study, and survey of A-T clinics' data collection internationally
1. systematic literature review of trials and of natural history studies.
2. Focus groups comprising young people with A-T, and others with parents / carers of people with A-T
3. Delphi: 3 rounds, including panels of young people with A-T, their parents / carers, health care professionals with experience of managing people with A-T, e.g. in A-T clinics: paediatric and adult neurologists, respiratory paediatricians and physicians, clinical immunologists, clinical geneticists, paediatric and adult oncologists, non-medical healthcare professionals allied to medicine, including adult and paediatric physiotherapists, occupational therapists, speech and language therapists, dieticians, clinical psychologists.
4. Consensus conference, bringing young people with A-T and their families together with healthcare professionals. Also if possible patient group representatives, regulatory representative, service commissioner.