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Biomarkers in Ataxia-Telangiectasia: a Systematic Review.
M Y Tiet1, B-I Guțu1, P Springall-Jeggo2
1Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Robinson Way, Cambridge, CB2 0PY, UK.
Journal of Neurology
|January 15, 2025
Summary
Biomarkers are crucial for evaluating Ataxia-Telangiectasia (A-T) therapies. This review found diagnostic biomarkers but lacked prognostic and responsive markers, highlighting a critical need for A-T biomarker development.
Area of Science:
- Genetics and Molecular Biology
- Neurology
- Immunology
Background:
- Ataxia-Telangiectasia (A-T) is a rare, fatal multisystem DNA repair disorder causing progressive neurological decline, respiratory failure, immunodeficiency, and cancer.
- Current A-T treatments are not curative, and clinical trials are hampered by a lack of validated outcome measures and biomarkers.
Approach:
- A systematic review was conducted to identify and collate information on existing biomarkers for A-T from both preclinical studies and human patients.
- Fifty-six reports discussing potential A-T biomarkers were analyzed.
Key Points:
- The review identified diagnostic biomarkers for A-T but found a significant lack of prognostic and responsive biomarkers to track clinical status.
- Promising biomarkers for neurodegeneration, including non-invasive neuroimaging, were noted.
- Biomarkers for oxidative stress and those responsive to radiotherapy and steroid treatment show potential for clinical trials.
Conclusions:
- Developing effective biomarkers is essential for advancing A-T research and therapeutic evaluation.
- The establishment of an international A-T biomarker working group is a critical step towards collaborative biomarker discovery and validation.
