Ataxia-Telangiectasia — Research Summary
Printed from RareWays (rareways.com.au) on 26 July 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Pharmacological Treatment of Cerebellar Ataxia in Pediatric Ataxia-Telangiectasia: A Systematic Review.
Panvino Fabiola et al. — European journal of neurology (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42387837/
- 2.
In Silico Drug Repositioning Identifies SYK Kinase Inhibitors as Potential Neuroprotective Agents for Ataxia-Telangiectasia.
Romano Alessia et al. — Chemical biology & drug design (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42384606/
- 3.
Safety and efficacy of levacetylleucine in ataxia-telangiectasia: a phase 3, randomised, double-blind, placebo-controlled crossover trial.
Martakis Kyriakos et al. — The Lancet. Neurology (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42309084/
- 4.
A potential turn of the tide in ataxia-telangiectasia.
van de Warrenburg Bart P et al. — The Lancet. Neurology (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42309069/
- 5.
Impact of ataxia-telangiectasia mutated (ATM) loss on radiobiological and immune response to radium-223 in prostate cancer
Dunne Victoria L et al. — Clinical and translational radiation oncology (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42291797/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Recruiting — Sanford Health
https://clinicaltrials.gov/study/NCT01793168
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Ataxia-Telangiectasia
Ataxia-telangiectasia is a rare progressive neurological condition caused by ATM gene mutations, impairing DNA repair. It causes cerebellar ataxia, telangiectasias (dilated blood vessels), immune deficiency, and a significantly elevated cancer risk. There is no cure, but a major Australian charity (BrAshA-T) funds research actively.
Most Recent Research
INTRODUCTION: Ataxia-telangiectasia (AT) is characterized by progressive cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased cancer susceptibility. No disease-modifying treatment is available. This systematic review aimed to evaluate the efficacy and safety of pharmacological interventions for ataxia in pediatric AT. METHOD: A systematic search was conducted across MEDLINE, Scopus, Web of Science, and ClinicalTrials.gov through December 2025. Eligible studies included randomized controlled trials (RCTs) and single-arm interventional studies evaluating pharmacological treatments for cerebellar ataxia in patients aged ≤ 18 years with genetically confirmed AT. RESULTS: Thirteen studies (3 RCTs, 10 single-arm trials) involving 314 participants (mean age 10.87 years) were included. Interventions included betamethasone, erythrocyte-encapsulated dexamethasone (eDSP), nicotinamide riboside (NR), leucine derivatives, and amantadine. Betamethasone demonstrated transient improvements in the Scale for the Assessment and Rating of Ataxia (SARA) and International Cooperative Ataxia Rating Scale (ICARS) scores, with dose-dependent systemic toxicity. eDSP showed favorable tolerability but was ineffective in phase 3 trials, although subgroup analyses suggested a potential benefit in children aged 6-9 years. NR supplementation improved SARA and AT Neurological Examination Scale Toolkit (AT-NEST) scores in open-label studies. Leucine derivatives showed mixed results. Amantadine showed benefits in patients with extrapyramidal symptoms. CONCLUSIONS: The recurrent pattern of promising open-label findings followed by negative phase 3 results highlights a translational gap attributable to methodological limitations, including small sample sizes, heterogeneous populations, and variable outcome measures. The non-linear disease progression and age-dependent treatment response further complicate trial design. Current evidence remains insufficient to guide clinical practice. TRIAL REGISTRATION: PROSPERO number: CRD420251184721.
Common Questions
What is Ataxia-Telangiectasia?
Ataxia-telangiectasia is a rare progressive neurological condition caused by ATM gene mutations, impairing DNA repair. It causes cerebellar ataxia, telangiectasias (dilated blood vessels), immune deficiency, and a significantly elevated cancer risk. There is no cure, but a major Australian charity (BrAshA-T) funds research actively.
How many clinical trials are available for Ataxia-Telangiectasia?
RareWays currently indexes 32 clinical trials for Ataxia-Telangiectasia, of which 7 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Ataxia-Telangiectasia come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
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