Precision Genetic Therapy for Ataxia-Telangiectasia (A-T)
This study is testing a new treatment called atipeksen for children and teenagers with Ataxia-Telangiectasia (A-T), a rare brain disease. Atipeksen is a genetic therapy designed to fix a specific problem in the ATM gene (c.7865C>T mutation) that causes A-T. Researchers want to see if atipeksen is safe and if it can slow down or stop the worsening of brain symptoms in people with A-T. Success would mean improved quality of life. You can join if you are 0-17 years old, have A-T confirmed by genetic testing, and have the specific ATM gene change (c.7865C>T) along with another ATM change. You cannot join if you have certain health problems that make a spinal tap (lumbar puncture) unsafe. The study plans to enroll 10 participants.
- Study design
- This is an interventional study, but the phase is not specified. It aims to enroll 10 participants.
- What's involved
- Neurological function will be measured at the start and every 12 weeks for up to ten years.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed for neurological function and global impression of change for up to ten years.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Safety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T)
At a glance
Conditions
Where it's being run
1 sites across 1 statesStudy leadership
- Timothy Yu, MD, PhD · STUDY_DIRECTOR · Boston Childrens Hostpital
- Christelle Achkar, MD · PRINCIPAL_INVESTIGATOR · Boston Children's Hospital
Who to contact
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Do you actually qualify for this trial?
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Inclusion
What this trial measures
- Neurological function as measured by the AT-NEST scaleAt Baseline and every 12 weeks up to ten years
The Ataxia-Telangiectasia Neurological Examination Toolkit (AT-NEST) is a test designed specifically for people with Ataxia-Telangiectasia (A-T). It helps doctors and researchers understand how the brain and nerves are working. The test looks at six main areas: * Communication * Eye movements Ataxia (problems with balance and coordination) * Movement disorders * Muscle strength (Power) * Nerve function (Neuropathy) These six areas make up the "pure neuro" score, which ranges from 0 (lowest) to 100 (highest). The test also includes growth and nutrition. When these are added to the six main areas, a total "neuro-related" score is calculated, with a maximum of 114. Higher scores mean better overall performance.This test is not painful and is carried out by trained specialists who will guide you through each step.
- Ataxia-Telangiectasia Structured Clinical Global Impression of Change (A-T CGI)At Baseline and every 12 weeks up to ten years
The Ataxia-Telangiectasia Clinical Global Impression of Change (AT-CGI) is a tool used to track how A-T progresses over time. It looks at five main areas of the disease: Ataxia (balance and coordination problems) Dysarthria (difficulty speaking) Repetitive movements / Dysmetria (trouble controlling movements) Movement disorders Eye movements Each area is scored from 0 to 4, for a total of 20 points. Higher scores mean more severe symptoms, while lower scores indicate better function.