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Published on: January 22, 2017
Emerging therapies in hereditary ataxias
Mallory L S Eisel1, Matthew Burns1, Tetsuo Ashizawa2
1Department of Neurology and the Fixel Institute for Neurological Disorders, University of Florida College of Medicine, Gainesville, FL, USA.
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.
Insights
Researchers are exploring new treatments for hereditary ataxias (HAs), focusing on gene therapies for Friedreich ataxia (FRDA) and polyglutamine ataxias. While promising preclinical strategies exist, further development is needed for safe and effective clinical applications.
Area of Science:
- Neuroscience
- Genetics
- Pharmacology
Background:
- Hereditary ataxias (HAs) involve complex genetic mechanisms, including RNA and protein level dysfunctions.
- Preclinical research is advancing therapeutic strategies for various HAs.
Purpose of the Study:
- To review current translational research for Friedreich ataxia (FRDA) and polyglutamine ataxias.
- To highlight the progress and challenges in developing effective treatments for these rare neurological disorders.
Main Methods:
- Gene editing, gene/protein replacement, and gene knockdown strategies are being investigated.
- Therapeutic delivery methods include viral vectors, oligonucleotides, cell-penetrating peptides, and synthetic transcription factors.
Main Results:
- Understanding of HA pathophysiology has improved, revealing loss-of-function and gain-of-function mechanisms.
- Diverse preclinical therapeutic approaches show potential for treating HAs.
Conclusions:
- Translational research for FRDA and polyglutamine ataxias is active but requires further development.
- Identifying safe molecules, optimizing delivery, and conducting innovative clinical trials are crucial next steps.
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