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

Sponsor
Duke University (Other)
Overall Status
Recruiting
CT.gov ID
NCT04399694
Collaborator
(none)
200
Enrollment
1
Location
36.9
Anticipated Duration (Months)
5.4
Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase

    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 Design

    Study Type:
    Observational
    Anticipated Enrollment :
    200 participants
    Observational Model:
    Case-Only
    Time Perspective:
    Prospective
    Official Title:
    Identification and Characterization of Novel Coding, Splicing and Non-Coding Variants That Contribute to Genetic Disorders
    Actual Study Start Date :
    Mar 3, 2020
    Anticipated Primary Completion Date :
    Apr 1, 2023
    Anticipated Study Completion Date :
    Apr 1, 2023

    Outcome Measures

    Primary Outcome Measures

    1. Number of missing pathogenic protein coding variants [2 years]

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    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.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Duke University Durham North Carolina United States 27710

    Sponsors and Collaborators

    • Duke University

    Investigators

    • Principal Investigator: Priya Kishnani, MD, Duke
    • Principal Investigator: Greg Crawford, PhD, Duke

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Duke University
    ClinicalTrials.gov Identifier:
    NCT04399694
    Other Study ID Numbers:
    • Pro00090878
    First Posted:
    May 22, 2020
    Last Update Posted:
    May 4, 2022
    Last Verified:
    Dec 1, 2021
    Individual Participant Data (IPD) Sharing Statement:
    Yes
    Plan to Share IPD:
    Yes
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:
    Genetic Diseases, Inborn
    Glycogen Storage Disease
    Metabolism, Inborn Errors
    Lysosomal Storage Diseases
    Metabolic Diseases

    Study Results

    No Results Posted as of May 4, 2022