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

Recruiting Phase 1 Phase 2 Interventional Study
Ataxia Telangiectasia
No Placebo Group Every participant receives an active treatment — no one gets a placebo. Prior Safety Data This treatment has already been tested in at least one earlier human trial.
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At a Glance
Age
0 – 17
Sex
Any
Trial phase
Phase 1/2
Study type
Interventional
Purpose
Treatment
Participants needed
10 (estimated)
Sponsor
Timothy Yu · Other
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About This Trial
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 individua…
Trial Locations
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Eligibility Criteria
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: * B…
Contacts

Arya Newington

617-919-7499

Arya.Newingham@childrens.harvard.edu

CONTACT