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

A Phase 1/2 Study of Antisense Oligonucleotide Therapy for Treatment of Ataxia-Telangiectasia

Who can join

Ages 0 to 17 · All sexes

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

About the 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.

What is being tested

• Antisense oligonucleotide targeting the ATM gene (drug)

Sponsor: Timothy Yu · Participants: 10 · Started: 2026-08

Contact the study team

• Arya Newington · Phone: 617-919-7499

Official record on ClinicalTrials.gov — NCT07215416

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.