Precision genetic therapy for Ataxia-Telangiectasia using ATM-targeted ASO
Official title: A Phase 1/2 Study of Antisense Oligonucleotide Therapy for Treatment of Ataxia-Telangiectasia
Run by Boston Children's Hospital · NCT07215416 · Data updated 2026-11-12
This trial tests a targeted genetic therapy called atipeksen to see if it is safe and helps slow neurologic decline in people with Ataxia-Telangiectasia who carry a specific ATM gene mutation.
Quick facts
| Phase | Phase1; Phase2 |
|---|---|
| Study type | Interventional |
| Ages | 0 Years to 17 Years |
| Sex | All |
| Enrollment | 10 (estimated) |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Status | Recruiting |
| Started | August 2026 |
| Main results expected | December 2032 |
| Study ends | December 2036 |
| Registry record updated | May 28, 2026 |
| Trial ID | NCT07215416 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Adults and children with classic Ataxia-Telangiectasia who carry the c.7865C>T ATM mutation alongside another pathogenic ATM variant and can safely undergo lumbar puncture.
✕Probably not a fit
Individuals without the c.7865C>T ATM mutation or those with medical conditions contraindicating lumbar puncture may not benefit from this therapy.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This interventional study investigates the safety and potential effectiveness of intrathecal atipeksen, an antisense oligonucleotide designed to correct mis-splicing of the ATM gene in individuals with classic Ataxia-Telangiectasia due to the c.7865C>T variant. The primary goal is to monitor safety and neurological changes over time using standardized assessments and clinician impressions. Secondary endpoints include imaging, wearable movement analysis, and functional evaluations, with exploratory biomarkers to track disease biology. The trial will enroll participants at Boston Children's Hospital under the leadership of sponsor Timothy Yu, focusing on a mutation-specific approach that could pave the way for additional precision therapies in A-T.
Why it matters
Potential benefit: If successful, participants may experience slower progression of neurological symptoms and improvements in quality of life.
How similar studies have gone: Prior studies in mutation-targeted antisense therapies have shown potential safety and biomarker signals in other neurogenetic conditions, but this approach is novel for A-T.
Who can join: the full rules
Show full inclusion / exclusion 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: * 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
Where it's running
-
Boston Children's Hospital
Boston, Massachusetts, United States Recruiting
Study contacts
- Principal investigator: Christelle Achkar, MD — Boston Children's Hospital
- Study coordinator: Arya Newington
- Email: Arya.Newingham@childrens.harvard.edu
- Phone: 617-919-7499
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.