Therapeutic targets and investigated treatments for Ataxia-Telangiectasia

Lavin, Martin F., Yeo, Abrey J., Kijas, Amanda W., Wolvetang, Ernst, Sly, Peter D., Wainwright, Claire and Sinclair, Kate (2016) Therapeutic targets and investigated treatments for Ataxia-Telangiectasia. Expert Opinion on Orphan Drugs, 4 12: 1263-1276. doi:10.1080/21678707.2016.1254618


Author Lavin, Martin F.
Yeo, Abrey J.
Kijas, Amanda W.
Wolvetang, Ernst
Sly, Peter D.
Wainwright, Claire
Sinclair, Kate
Title Therapeutic targets and investigated treatments for Ataxia-Telangiectasia
Journal name Expert Opinion on Orphan Drugs   Check publisher's open access policy
ISSN 2167-8707
Publication date 2016-12-01
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1080/21678707.2016.1254618
Open Access Status Not yet assessed
Volume 4
Issue 12
Start page 1263
End page 1276
Total pages 14
Place of publication Abingdon, Oxfordshire, United Kingdom
Publisher Taylor & Francis
Collection year 2017
Language eng
Formatted abstract
Introduction: Ataxia-Telangiectasia (A-T) is an autosomal recessive multisystem disease affecting the brain, immune system, lungs, liver and also characterised by an enhanced risk of lymphoid and other tumours. At present there is no cure for A-T with management relying on supportive care using symptom-specific medications. Identification of the gene defective in this syndrome, ATM, and further characterization of the disorder together with greater insight into the function of the ATM protein has provided greater opportunity for the development of potential therapies.

Areas covered: Here we review conventional as well as more recently developed approaches to manage the symptoms of patients with A-T. In addition we explore ongoing and potential strategies for therapy involving gene correction, stem cells and use of antioxidants and anti-inflammatory agents.

Expert opinion: Prevention or arrest of the progressive neurodegeneration, the most debilitating feature of A-T, represents a major goal in the development of a cure for this disorder. However, since lung disease and increased risk of cancer are responsible for the majority of mortality in A-T, a greater understanding of these pathologies together with more effective approaches to treatment is required in the overall management of patients.
Keyword Ataxia-telangiectasia
ATM protein
Clinical trials
Liver disease
Lung disease
Neurodegeneration
Oxidative stress
Steroids
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

 
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