Delving into the Latest Updates on Atipeksen with Synapse

Overview

Basic Info

Drug Type

ASO

Synonyms

Target

ATM

Action

modulators

Mechanism

ATM modulators(Serine-protein kinase ATM modulators)

Therapeutic Areas

Immune System DiseasesNervous System DiseasesCardiovascular Diseases+ [4]

Active Indication

Ataxia Telangiectasia

Inactive Indication-

Originator Organization

The Children's Hospital Corp.

Active Organization

The Children's Hospital Corp.

Inactive Organization-

License Organization-

Drug Highest PhasePreclinical

First Approval Date-

Regulation-

Structure/Sequence

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Author: Kuniholm, Ashley ; Nguyen, Minh A ; Lentucci, Claudia ; Berde, Charles B ; Zhao, Boxun ; Philippakis, Anthony A ; Friedman, Danielle A ; Faour, Kamli N W ; DiDonato, Renata L ; Margus, Brad ; Park, Peter J ; Soucy, Aubrie ; Donado, Carolina ; Kim, Jinkuk ; El Achkar, Christelle Moufawad ; Riccardi, Olivia ; Yu, Timothy W ; Chin, Diana H ; Patterson, Al ; Nakayama, Tojo ; Lee, Eunjung Alice ; Hu, Chunguang April ; Woo, Sijae ; Bush, Lynn W ; de Gusmao, Claudio M ; Cornelissen, Laura ; Dash, Zane ; Suslovitch, Victoria ; Thornton, Jennifer Karlin

AbstractSplice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of individuals with genetic diseases1, but the systematic identification of such individuals remains a challenge. Here we performed whole-genome sequencing analyses to characterize genetic variation in 235 individuals (from 209 families) with ataxia-telangiectasia, a severely debilitating and life-threatening recessive genetic disorder2,3, yielding a complete molecular diagnosis in almost all individuals. We developed a predictive taxonomy to assess the amenability of each individual to splice-switching ASO intervention; 9% and 6% of the individuals had variants that were ‘probably’ or ‘possibly’ amenable to ASO splice modulation, respectively. Most amenable variants were in deep intronic regions that are inaccessible to exon-targeted sequencing. We developed ASOs that successfully rescued mis-splicing and ATM cellular signalling in patient fibroblasts for two recurrent variants. In a pilot clinical study, one of these ASOs was used to treat a child who had been diagnosed with ataxia-telangiectasia soon after birth, and showed good tolerability without serious adverse events for three years. Our study provides a framework for the prospective identification of individuals with genetic diseases who might benefit from a therapeutic approach involving splice-switching ASOs.

100 Deals associated with Atipeksen

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