ClinicalTrials.gov record NCT07215416

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

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

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeInterventionalA study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
PhasePhase 1/2A study that combines safety and dose-finding (phase 1) with a first look at whether the treatment has an effect (phase 2).
AgeUnder 1 month old to 17 years old
SexAll
LocationUnited States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This Phase 1/2, open-label study tests atipeksen, an antisense oligonucleotide given into the spinal fluid, in people with Ataxia‑Telangiectasia who carry the ATM c.7865C>T variant. The study will evaluate safety and whether treatment affects neurological function using A‑T specific clinical scales and other tests. Participants receive the investigational drug and have regular clinical assessments, movement monitoring, neurodevelopmental testing, and imaging over time.

What it is studying. The study is testing the safety and efficacy of atipeksen, a mutation-specific antisense oligonucleotide designed to restore normal ATM gene splicing in people with A‑T who have the c.7865C>T ATM variant. It aims to determine whether intrathecal atipeksen can reduce or stabilize neurological decline measured by A‑T specific scales (AT‑NEST and A‑T CGI) and by additional clinical, wearable, imaging, and biomarker measures.

What the researchers hope to learn. Scientific goals: evaluate the safety profile of intrathecal atipeksen and determine whether administration is associated with reduced or stabilized neurological decline in people with A‑T carrying the ATM c.7865C>T variant, using AT‑NEST, A‑T CGI, wearable actigraphy, therapy assessments, imaging, and biomarkers.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Drug
  • Antisense oligonucleotide targeting the ATM gene

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion 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

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

The goal of this protocol is to study the safety and efficacy of the investigational drug atipeksen, a mutation-specific antisense oligonucleotide (ASO), in individuals with ataxia telangiectasia (A-T). The first objective is to evaluate the safety of therapy with atipeksen, a 22-nucleotide oligonucleotide designed to ameliorate the effects of mis-splicing caused by a mutation in the ATM gene(NM_000051.3), c.7865C>T (p.Ala2622Val), when administered via intrathecal injection. The second objective is to determine if administration of intrathecal atipeksen can reduce or stabilize neurological decline using clinical and physiological biomarkers. The primary endpoint will be serial clinical neurologic assessments using the Ataxia-Telangiectasia Neurological Examination Toolkit (A-T NEST) and a structured version of the Ataxia-Telangiectasia Clinical Global Impression of Change (A-T CGI). Secondary endpoints will include videotaped clinical neurological examinations, movement pattern analyses using wearable actigraphy, and standard scales administered by PT, OT, and neuropsychology. Exploratory endpoints include serial brain imaging with volumetric analyses, neurofilament light chain, alpha-fetoprotein, and growth parameters.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants will receive the investigational drug (atipeksen) delivered into the spinal fluid by lumbar puncture (intrathecal injection). They will attend regular clinic visits for neurological exams (AT‑NEST, A‑T CGI), videotaped exams, physical/occupational therapy and neuropsychology assessments, and wear small motion sensors on a wrist and an ankle for one week at a time. Additional procedures include periodic brain imaging with volumetric analysis, blood tests for biomarkers (for example neurofilament light and alpha‑fetoprotein), growth measurements, and developmental and motor testing. Follow-up visits and assessments are repeated regularly (often every 12 weeks for many measures) with long-term follow-up listed up to 10 years.

How the study is structured. Phase 1/2 interventional drug trial. Single-group, open-label (no masking): all enrolled participants receive intrathecal (spinal fluid) injections of atipeksen at the same dose. Participants have baseline testing and repeated follow-up visits with neurological exams, wearable motion monitoring, neurodevelopmental and therapy assessments, blood/biomarker tests, and brain imaging at scheduled intervals, with long-term follow-up described in the protocol.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The registry lists this study under Ataxia Telangiectasia. Does it apply to my diagnosis?
  • This is an early-phase study, mainly about safety and dose. What is already known about this treatment?
  • The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

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Important dates

Study start
August 2026 (estimated)
Primary completion
December 2032 (estimated)
Study completion
December 2036 (estimated)
Target enrollment
10 participants (estimated)
Last updated on registry
May 28, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Timothy Yu

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

intrathecal
Given by injection into the fluid around the spinal cord, usually through a lumbar puncture.
lumbar puncture
A procedure in which a needle is placed between the bones of the lower back to collect spinal fluid or to give a treatment.
EXCLUSION CRITERIA
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
investigational drug
A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
biomarkers
Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
primary endpoint
The main result the study is designed to measure and report on. Other results, called secondary outcomes, are also collected.
endpoints
Something the study measures to judge its results, such as a symptom score, a blood test or survival. Outcomes are grouped as primary, secondary and sometimes exploratory.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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