Status:
ACTIVE_NOT_RECRUITING
Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders
Lead Sponsor:
Duke University
Conditions:
Genetic Disease
Inborn Errors of Metabolism
Eligibility:
All Genders
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 ...
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...
Eligibility Criteria
Inclusion
- 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.
Exclusion
Key Trial Info
Start Date :
March 3 2020
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
September 1 2027
Estimated Enrollment :
56 Patients enrolled
Trial Details
Trial ID
NCT04399694
Start Date
March 3 2020
End Date
September 1 2027
Last Update
October 15 2025
Active Locations (1)
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1
Duke University
Durham, North Carolina, United States, 27710