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

Conditions

• Ataxia Telangiectasia

Eligibility Criteria

Sex

ALL

Age

0 Years - 17 Years

Healthy Volunteers

Not accepted

Interventions

• Antisense oligonucleotide targeting the ATM gene — DRUG
  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.

Study Details

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.

Key Dates

Start date

Aug 31, 2026

Status verified

May 2026

Primary completion

Dec 31, 2032

Completion

Dec 31, 2036

Study Design

Enrollment

10 participants (estimated)

Allocation

NA

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

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.

Primary Outcome Measure

Neurological function as measured by the AT-NEST scale [ Time Frame: At Baseline and every 12 weeks up to ten years ]

Central Contacts

• Arya Newington
  617-919-7499
  [email protected]

Locations (1)

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