Oligonucleotides for the treatment of neuromuscular diseases

By designing oligonucleotides to hybridize with the RNA transcript of the c.877G>A mutant allele in the COL6A1 gene, the expression of the mutant allele was reduced, solving the treatment problem of collagen VI-related muscular dystrophy and alleviating the disease symptoms.

CN122180773APending Publication Date: 2026-06-09SAN JUAN DE SAN HOSPITAL
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
SAN JUAN DE SAN HOSPITAL
Filing Date
2024-06-26
Publication Date
2026-06-09

AI Technical Summary

Technical Problem

Currently, there is a lack of effective treatments to alter the course of collagen VI-related muscular dystrophy caused by the c.877G>A mutation in the COL6A1 gene, especially the intermediate clinical phenotypes of Ullrich congenital muscular dystrophy and Bethlem myopathy.

Method used

An oligonucleotide was developed that can downregulate the expression of the c.877G>A mutant allele in the COL6A1 gene by hybridization with RNA transcripts, while minimizing the impact on the expression of the wild-type allele.

Benefits of technology

By downregulating the expression of mutated alleles, the pathogenic effects of the disease were reduced, the expression levels of related proteins were decreased, and disease symptoms were alleviated.

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Abstract

This invention relates to adjustable carrying capacity COL6A1 The invention relates to an oligonucleotide expressing a dominant mutant allele, wherein the downregulation is achieved by hybridization of the oligonucleotide with the RNA transcript of the allele at the dominant mutation site, and the oligonucleotide does not inhibit the expression of the wild-type allele, or downregulates the expression of the wild-type allele to a lesser extent than it downregulates the expression of the allele carrying the dominant mutant. The invention also relates to the use of compositions to treat patients with muscular dystrophy, particularly those with malnutrition related to type VI collagen.
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