Emerging therapies in hereditary ataxias

Mallory L.S. Eisel, Matthew Burns, Tetsuo Ashizawa, Barry Byrne, Manuela Corti, Sub H. Subramony

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations

Abstract

Recent investigations have defined the pathophysiological basis of many hereditary ataxias (HAs), including loss-of-function as well as gain-of-function mechanisms at either the RNA or protein level. Preclinical studies have assessed gene editing, gene and protein replacement, gene enhancement, and gene knockdown strategies. Methodologies include viral vector delivery of genes, oligonucleotide therapies, cell-penetrating peptides, synthetic transcription factors, and technologies to deliver therapies to defined targets. In this review, we focus on Friedreich ataxia (FRDA) and the polyglutamine ataxias in which translational research is active. However, much remains to be done to identify safe and effective molecules, create ideal delivery methods, and perform innovative clinical trials to prove the safety and efficacy of treatments for these rare but devastating diseases.

Original languageEnglish (US)
Pages (from-to)181-194
Number of pages14
JournalTrends in Molecular Medicine
Volume31
Issue number2
DOIs
StatePublished - Feb 2025

Keywords

  • RNA interference
  • clinical trials
  • genetic therapies
  • hereditary ataxia
  • oligonucleotides

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology

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