Recruiting
Phase 1
Phase 2

Atipeksen

Sponsor:

Timothy Yu

Code:

NCT07215416

Conditions

Ataxia Telangiectasia

Eligibility Criteria

Sex: All

Age: 0 - 17

Healthy Volunteers: Not accepted

Interventions

Antisense oligonucleotide targeting the ATM gene

Study Details

Brief 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.

Conditions

Ataxia Telangiectasia

Study ID

NCT07215416

Start date

Aug, 2026

Status verified date

May, 2026

Completion date

Dec, 2036

Anticipated

Primary completion date

Dec, 2032

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 17

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

10 participants

Anticipated

Intervention Model

Single group

Primary purpose

Treatment

Interventions and Outcome Measures

Arms

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

Individuals with genetically confirmed, classic ataxia telangiectasia with at least one copy of the ASO-amenable ATM variant NM\_000051.3:c.7865C>T;p.Ala2622Val, will receive the ASO at the same dose.

Interventions

Antisense oligonucleotide targeting the ATM gene

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.

Primary outcome measure

  • Neurological function as measured by the AT-NEST scale [ Time Frame: At Baseline and every 12 weeks up to ten years ]
  • Ataxia-Telangiectasia Structured Clinical Global Impression of Change (A-T CGI) [ Time Frame: At Baseline and every 12 weeks up to ten years ]

Central Contacts and Locations

Central contacts

Arya Newington

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

Locations

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Arya Newington

617-919-7499arya.newington@childrens.harvard.edu

More Information

Sponsor

Timothy Yu

Last update posted

May 28, 2026

Last verified

May, 2026

Keywords

  • Ataxia Telangiectasia
  • A-T
  • ASO
  • Intrathecal administration
  • ATM
  • ATIPEKSEN

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Timothy Yu on 2026-05-28.