atipeksen

Atipeksen (formerly AT008) is an investigational, mutation-specific **antisense oligonucleotide (ASO)** designed to treat Ataxia-Telangiectasia (A-T). Developed by the lab of Dr. Timothy Yu at **Boston Children's Hospital**, the drug is a splice-switching oligonucleotide that specifically targets the recurrent *ATM* gene mutation *c.7865C>T* (p.Ala2622Val). This mutation creates a cryptic splice site that leads to aberrant splicing and the production of non-functional proteins. Atipeksen binds to this cryptic site in the *ATM* pre-mRNA, blocking the mis-splicing event and restoring the correct reading frame and functional ATM kinase levels. Administered via **intrathecal injection**, atipeksen represents a precision medicine approach for ultra-rare populations, following the individualized therapeutic model established by milasen.

Other names

ATM-targeting ASOASO-008ASO008ASO 008