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
Timothy Yu
10 participants
Aug 1, 2026
INTERVENTIONAL
Conditions
Summary
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.
Eligibility
Exclusion Criteria15
- 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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Interventions
Atipeksen is a fully modified PS-2'MOE splice-switching antisense oligonucleotide that is designed to restore normal splicing patterns in patients with the ATM c.7865C\>T mutation.
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT07215416