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

Status: Recruiting
Location: See location...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: No
View:

• 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

Locations
United States
North Carolina
Duke University
Recruiting
Durham
Contact Information
Primary
Erin Huggins, MS, CGC
erin.huggins@duke.edu
919-613-0948
Backup
Erica B Nading, MS, CGC
erica.nading@duke.edu
919-681-2774
Time Frame
Start Date: March 3, 2020
Estimated Completion Date: April 2023
Participants
Target number of participants: 200
Authors
Priya Kishnani, Greg Crawford
Sponsors
Leads: Duke University

This content was sourced from clinicaltrials.gov

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