CompletedNot Applicable

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

United States56 participantsStarted 2020-03-03

Plain-language 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.

Who can participate

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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.

What they're measuring

Number of missing pathogenic protein coding variants

Timeframe: 2 years

Trial details

NCT IDNCT04399694

SponsorDuke University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2024-04-11

View on ClinicalTrials.gov More Genetic Disease trials