Ignite Creation Date:
2025-12-25 @ 1:39 AM
Ignite Modification Date:
2025-12-26 @ 4:34 PM
Study NCT ID:
NCT04399694
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-10-15
First Post:
2020-05-15
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders
Sponsor:
Duke University
Organization:
Study Overview
Official Title:
Identification and Characterization of Novel Coding, Splicing and Non-Coding Variants That Contribute to Genetic Disorders
Status:
ACTIVE_NOT_RECRUITING
Status Verified Date:
2025-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 Oversight
Has Oversight DMC:
True
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: