Actively Recruiting

Age: 0 - 100Years
All Genders
Healthy Volunteers
NCT02927158

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

Led by University of Pittsburgh · Updated on 2026-03-10

300

Participants Needed

1

Research Sites

1252 weeks

Total Duration

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Sponsors

U

University of Pittsburgh

Lead Sponsor

H

Horizon Pharma USA, Inc.

Collaborating Sponsor

AI-Summary

What this Trial 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

Official Title

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

Who Can Participate

Age: 0 - 100Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Any person of Amish or Mennonite descent
Not Eligible

You will not qualify if you...

  • Individuals who are not of Amish or Mennonite descent

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, United States, 15224

Actively Recruiting

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Research Team

C

Cate Walsh Vockley, MS, LCGC

CONTACT

J

Jenifer Baker, MA

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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