Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders

Suspended

• Conditions: Inborn Errors of Metabolism; Genetic Disease; Glycogen Storage Disease; Lysosomal Storage Diseases; Storage Disease

• Registration Number: NCT04399694
• Lead Sponsor: Duke University

Brief Summary

The goal of this study is to identify and characterize novel non-coding and splicing variants that may contribute to genetic disorders. We will particularly focus on patients with a diagnosed genetic disorder that has inconclusive genetic findings.

Detailed Description

To perform this study, we will use patient DNA and RNA that is isolated from blood samples. DNA will be sequenced (targeted capture and/or whole genome DNA sequencing (WGS)) to identify any non-coding single nucleotide variants (SNVs), smaller insertions/deletions (indels), or larger structural variants (SVs). RNA will be sequenced (RNA-seq) to identify genes that are expressed in a differential and/or allele-specific manner, which may indicate a functional non-coding or splicing variant. We will test the function of non-coding variants using high-throughput reporter assays and CRISPR based methodologies.

Study Timeline

• Study Start: 2020-03-03
• Study First Submitted: 2020-05-15
• Study First Submitted QC: 2020-05-19
• Study First Posted: 2020-05-22
• Status Verified: 2024-01
• Last Update Submitted: 2024-05-15
• Last Update Posted: 2024-05-16
• Primary Completion: 2025-04
• Study Completion: 2026-04

Recruitment & Eligibility

• Status: SUSPENDED
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

Not provided

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Exclusion Criteria

There are no exclusion criteria for this study.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of missing pathogenic protein coding variants	2 years

Trial Locations

Locations (1)

Duke University; 🇺🇸 Durham, North Carolina, United States