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

University of Pittsburgh · with Horizon Pharma USA, Inc. · NCT02927158

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Up to age 100 · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
300
US sites recruiting
1
Study start
August 2016
Record last updated
March 10, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

Inclusion Criteria

  • Any person of Amish or Mennonite descent

Exclusion Criteria

  • Individuals who are not of Amish or Mennonite descent

Recruiting US locations

  • Children's Hospital of Pittsburgh of UPMC

    Pittsburgh, PA 15224

    Site contact: Jennifer Baker, MA · 412-692-6378 · jennifer.baker@chp.edu

Study contacts (from the official record)

  • Cate Walsh Vockley, MS, LCGC · 412-692-7349 · catherine.walshvockley@chp.edu
  • Jenifer Baker, MA · 412-6926378 · jennifer.baker@chp.edu
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Exome and Genome Analysis to Elucidate Genetic Etiologies and… (NCT02927158) | Bored Studies