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NCT04399694 Clinical Trial

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

Genetic Disease Clinical Trial

Official title:
Identification and Characterization of Novel Coding, Splicing and Non-Coding Variants That Contribute to Genetic Disorders

Clinical Trial Details — Status: Suspended

Administrative data
NCT number NCT04399694
Other study ID # Pro00090878
Secondary ID
Status Suspended
Phase
First received
Last updated
Start date March 3, 2020
Est. completion date April 2025

Study information
Verified date January 2024
Source Duke University
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.

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.

Recruitment information / eligibility
Status Suspended
Enrollment 200
Est. completion date April 2025
Est. primary completion date April 2024
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility Inclusion criteria: Subjects will have one or more of the following: - Patients (probands) diagnosed with a genetic disease - Patients (probands) with inconclusive genetic results - Patients (probands) that have identical coding and/or splicing variants, but display highly diverse phenotypes - Unaffected family members of probands Exclusion Criteria: There are no exclusion criteria for this study.

Study Design

Related Conditions & MeSH terms

Locations
Country Name City State
United States Duke University Durham North Carolina

Sponsors (1)
Lead Sponsor Collaborator
Duke University

Country where clinical trial is conducted

United States, 

Outcome
Type Measure Description Time frame Safety issue
Primary Number of missing pathogenic protein coding variants 2 years
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