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Updated: Jul 23, 2025

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
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A framework for individualized splice-switching oligonucleotide therapy.

Jinkuk Kim1,2,3,4, Sijae Woo5, Claudio M de Gusmao6,7

  • 1Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea. jinkuk@kaist.ac.kr.

Nature
|July 12, 2023
PubMed
Summary
This summary is machine-generated.

Whole-genome sequencing identified individuals with genetic diseases, like ataxia-telangiectasia, amenable to splice-switching antisense oligonucleotides (ASOs). These ASOs successfully corrected splicing defects in patient cells and showed safety in a clinical trial.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Therapeutics

Background:

  • Genetic diseases pose challenges for targeted therapies.
  • Identifying individuals suitable for splice-switching antisense oligonucleotide (ASO) therapy requires advanced genetic analysis.
  • Ataxia-telangiectasia is a severe, life-threatening recessive genetic disorder.

Purpose of the Study:

  • To systematically identify individuals with genetic diseases, specifically ataxia-telangiectasia, who are candidates for splice-switching ASO therapy.
  • To develop and validate a predictive model for ASO amenability.
  • To demonstrate the efficacy and safety of ASOs in preclinical and clinical settings.

Main Methods:

  • Whole-genome sequencing of 235 individuals with ataxia-telangiectasia.
  • Development of a predictive taxonomy for ASO splice modulation amenability.
  • Design and testing of splice-switching ASOs in patient-derived fibroblasts.
  • Pilot clinical study of an ASO in a pediatric patient.

Main Results:

  • Achieved a near-complete molecular diagnosis for all participants.
  • Identified 9% and 6% of individuals with variants 'probably' or 'possibly' amenable to ASO therapy, respectively.
  • Developed ASOs that corrected splicing defects and restored ATM signaling in patient cells.
  • Demonstrated good tolerability and safety of an ASO in a three-year pilot clinical study.

Conclusions:

  • Whole-genome sequencing combined with predictive modeling can identify patients for ASO therapy.
  • Deep intronic variants, often missed by other methods, can be targeted by ASOs.
  • This study provides a framework for prospective identification of patients benefiting from ASO-based treatments for genetic disorders.