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Safety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T)

RecruitingPhase 1, Phase 2Ages 0 Years - 17 YearsAllTimothy Yu
NCT07215416 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

This project aims to evaluate the safety and efficacy of precision genetic therapy for patients with Ataxia-telangiectasia (A-T), a rare neurodegenerative disease caused by mutations in the ATM gene. The investigators will conduct a clinical trial to study the safety and efficacy of intrathecal administration of atipeksen, a targeted genetic therapy that restores ATM gene function in A-T individuals bearing the recurrent ATM c.7865C\>T variant. The aim of this study is to delay or forestall progression of neurologic symptoms in A-T and improving quality of life. Success will provide an empirical foundation for advancing additional precision genetic therapies for A-T and other neurodegenerative conditions.

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📋 Eligibility rules (as published)
INCLUSION/EXCLUSION CRITERIA: Who can take part: * People with classic A-T confirmed by genetic testing * Must have a specific ATM gene change (c.7865C\>T) * Must also have another ATM change that causes A-T Who cannot take part: People with health problems that make lumbar puncture unsafe: * Blood clotting or bleeding problems * Brain conditions raising pressure inside the head * Serious heart or breathing problems * Infection near the lower back Other things doctors will check: * Overall health and stability * Any medicines that might cause problems * Past difficulties with lumbar punctures * Any other safety concerns
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What it tests

  • Antisense oligonucleotide targeting the ATM gene
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Where

1 site
Boston Children's Hospital
Boston, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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