Recruiting

Genetic Analysis

Sponsor:

University of Pittsburgh

Code:

NCT02927158

Conditions

Undiagnosed Disease

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Study Details

Brief summary:

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.

Conditions

Undiagnosed Disease

Study ID

NCT02927158

Start date

Aug, 2016

Status verified date

Mar, 2026

Completion date

Aug, 2040

Anticipated

Primary completion date

Aug, 2036

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Inclusion Criteria:

  • Any person of Amish or Mennonite descent

Exclusion Criteria:

  • Individuals who are not of Amish or Mennonite descent

Study Design

Enrollment

300 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

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

Central Contacts and Locations

Central contacts

Cate Walsh Vockley, MS, LCGC

412-692-7349catherine.walshvockley@chp.edu

Jenifer Baker, MA

412-6926378jennifer.baker@chp.edu

Locations

Children's Hospital of Pittsburgh of UPMC

Recruiting

Pittsburgh, Pennsylvania, United States, 15224

Contacts

Jennifer Baker, MA

412-692-6378jennifer.baker@chp.edu

Cate Walsh Vockley, MS, LCGC

412-692-7349Catherine.WalshVockley@chp.edu

Principal Investigator:

Lina Ghaloul Gonzalez, MD

More Information

Sponsor

University of Pittsburgh

Last update posted

Mar 10, 2026

Last verified

Mar, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of Pittsburgh on 2026-03-10.