Methods and compositions for rapid and sensitive detection of nucleic acid repeat length heterogeneity

WO2026126169A1PCT designated stage Publication Date: 2026-06-18HOSPITAL FOR SICK CHILDREN
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Patent Information

Authority / Receiving Office
WO · WO
Patent Type
Applications
Current Assignee / Owner
HOSPITAL FOR SICK CHILDREN
Filing Date
2025-12-12
Publication Date
2026-06-18

AI Technical Summary

⚠Technical Problem

Current methods for detecting nucleic acid repeat length heterogeneity, such as PCR amplification and long-read sequencing, are limited by sensitivity, require large DNA samples, and are labor-intensive, making it difficult to accurately assess somatic repeat expansions (SRE) in neurological disorders.

⚗Method used

The use of droplet digital PCR (ddPCR) technology to partition nucleic acids into droplets, amplifying single alleles, and using a nucleic acid dye like EvaGreen to quantify repeat lengths, enabling rapid and sensitive detection of SRE in various biological samples.

🎯Benefits of technology

TREddPCR provides a rapid, sensitive, and cost-effective method to assess SRE, allowing for high-throughput analysis of 12,000-16,000 alleles, reducing amplification bias, and enabling monitoring of disease progression and therapeutic efficacy.

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Abstract

This document describes methods and compositions for rapid and sensitive detection of nucleic acid repeat tract length heterogeneity.
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