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