Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain Community

Part of paid clinical trials in Pittsburgh, Pennsylvania.

Sponsor
University of Pittsburgh
Study ID
NCT02927158
Status
Recruiting
Apply to this trial

Conditions

  • Undiagnosed Disease

Eligibility Criteria

Sex
ALL
Age
N/A - 100 Years
Healthy Volunteers
Accepted

Study Details

This study is designed to utilize whole exome and whole genome sequencing techniques to identify underlying genetic causes for undiagnosed disorders in the Plain Communities, and to do population genetic studies looking at genetic drift and founder mutations in this unique population.

Key Dates

Start date
Aug 31, 2016
Status verified
Mar 2026
Primary completion
Aug 31, 2036
Completion
Aug 31, 2040

Study Design

Enrollment
300 participants (estimated)

Primary Outcome Measure

Exome and genome sequencing results for clinical diagnosis in participants. [ Time Frame: Within approximately one year for each participant ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Children's Hospital of Pittsburgh of UPMCPittsburghPennsylvania15224
Jennifer Baker, MA
[email protected]
412-692-6378
Cate Walsh Vockley, MS, LCGC
[email protected]
412-692-7349
Lina Ghaloul Gonzalez, MD (PRINCIPAL_INVESTIGATOR)
Gerard Vockley, MD, PhD (SUB_INVESTIGATOR)
Roxanne Acquaro, MS, LCGC (SUB_INVESTIGATOR)
M. Michael Barmada (SUB_INVESTIGATOR)
Steven Dobrowolski (SUB_INVESTIGATOR)
Jessica Sebastian, MS, LCGC (SUB_INVESTIGATOR)
Andrew McCarty, MS, LCGC (SUB_INVESTIGATOR)
Christine Munro, BSc (SUB_INVESTIGATOR)
Jodie Vento, MS, LCGC (SUB_INVESTIGATOR)
Catherine Walsh Vockley, MS, LCGC (SUB_INVESTIGATOR)

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By research site
Children's Hospital of Pittsburgh of UPMC· Pittsburgh, PA

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