Genetic Disease Clinical Trial
Official title:
Identification and Characterization of Novel Coding, Splicing and Non-Coding Variants That Contribute to Genetic Disorders
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 2026 |
Verified date | January 2024 |
Source | Duke University |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Suspended |
Enrollment | 200 |
Est. completion date | April 2026 |
Est. primary completion date | April 2025 |
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. |
Country | Name | City | State |
---|---|---|---|
United States | Duke University | Durham | North Carolina |
Lead Sponsor | Collaborator |
---|---|
Duke University |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Number of missing pathogenic protein coding variants | 2 years |
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