Treatment agent for charcot-marie-tooth disease

The CRISPR-Cas system targets and deletes one copy of the PMP22 gene using an AAV vector in iPSC-derived Schwann cells, addressing the gene duplication in CMT1A, reducing duplication by 20-40% and normalizing gene expression, thereby improving cellular function and myelination.

WO2025079278A1 Publication Date: 2025-04-17NAT UNIV CORP TOKYO MEDICAL & DENTAL UNIV
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Patent Information

Application Number
PCT/JP2024/008648
Authority / Receiving Office
WO · WO
Patent Type
Applications
Current Assignee / Owner
Priority Date
2023-10-10
Filing Date
2024-03-07
Publication Date
2025-04-17

AI Technical Summary

Technical Problem

Current treatments for Charcot-Marie-Tooth disease, particularly type 1A (CMT1A), lack efficacy in correcting the PMP22 gene duplication that causes the condition, and existing animal models do not accurately reflect human pathology, posing challenges for therapeutic interventions.

Method used

A CRISPR-Cas system is used to develop an AAV vector that specifically deletes one copy of the PMP22 gene in human induced pluripotent stem cell (iPSC)-derived Schwann cells, using guide RNAs targeting unique sequences flanking the duplicated gene, thereby reducing PMP22 gene duplication and normalizing mRNA and protein expression levels.

Benefits of technology

The method effectively reduces PMP22 gene duplication by 20-40% in iPSC-derived Schwann cells, ameliorating apoptosis and impaired myelination, offering a potential treatment for CMT1A by normalizing gene expression and cellular function.

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Abstract

The purpose of this invention is to provide a treatment agent for Charcot-Marie-Tooth disease. The present invention provides an treatment agent for Charcot-Marie-Tooth disease in a subject, the agent containing, as an active ingredient, a drug for editing the PMP22 gene in the genome of the subject.
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