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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Neurological function as measured by the AT-NEST scale
Timeframe: At Baseline and every 12 weeks up to ten years
Ataxia-Telangiectasia Structured Clinical Global Impression of Change (A-T CGI)
Timeframe: At Baseline and every 12 weeks up to ten years