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Study identifier: NCT07215416 Synced from ClinicalTrials.gov · July 28, 2026
● Recruiting

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

Condition: Ataxia Telangiectasia  ·  Sponsor: Timothy Yu

PhasePhase 1/Phase 2
Planned participants10
Who can joinAll sexes, 0 Years to 17 Years
Healthy volunteersNo

About this study

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.

This description comes directly from the study's public registry record.

Talk to the study team

Arya Newington  ·  617-919-7499  ·  Arya.Newingham@childrens.harvard.edu

Always discuss trial participation with your own doctor first.

Locations (1)

Boston Children's HospitalBoston, Massachusetts, United StatesRecruiting

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Source record: clinicaltrials.gov/study/NCT07215416