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

NCT ID: NCT02927158

Last Updated: 2025-05-01

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 300 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2016-08-31
• Study Completion Date: 2030-08-31

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.

Detailed Description

The long term goal of this proposal is to establish a Translational Medicine Program for the Old Order Amish and Mennonite communities that is accessible to their members with decreasing cost and effective diagnostic strategies, and to leverage the genetic information obtained to better understand the genetic forces and risks driving the health of these populations. As a bridge to do so, next-generation sequencing technology will be used to identify genetic defects in Old Order Amish families/individuals who have a clinical picture suggestive of a Mendelian disorder but with unknown diagnosis. Investigators plan to develop targeted analytical NGS panels optimized for general use in the clinical setting when dealing with Plain Communities patients and families, yielding better and more prompt clinical intervention and improvement of outcomes. The study also involves use of whole genome sequencing for a mutant allele discovery platform to identify novel genetic risks in this population not yet identified in patients, and to use this platform to describe genetic differences in Old Order Amish communities across Pennsylvania and ultimately across the country. With WGS will be used to analyze population genetics by comparing the distribution of genetic variants among the various Amish communities and to compare these with their European ancestry variants available in 1000 genome project, to study the influence of founder-selection and genetic drift in these populations.

Conditions

Undiagnosed Disease

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

Inclusion Criteria

• Any person of Amish or Mennonite descent

Exclusion Criteria

• Individuals who are not of Amish or Mennonite descent

• Maximum Eligible Age: 100 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Horizon Pharma USA, Inc.

INDUSTRY

Sponsor Role: collaborator

University of Pittsburgh

OTHER

Sponsor Role: lead

Responsible Party

Lina Ghaloul Gonzalez

Assistant Professor

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Lina Ghaloul Gonzalez, MD

Role: PRINCIPAL_INVESTIGATOR

University of Pittsburgh

Locations

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Cate Walsh Vockley, MS, LCGC

Role: CONTACT

catherine.walshvockley@chp.edu

412-692-7349

Jenifer Baker, MA

Role: CONTACT

jennifer.baker@chp.edu

412-6926378

Facility Contacts

Jennifer Baker, MA

Role: primary

jennifer.baker@chp.edu

412-692-6378

Cate Walsh Vockley, MS, LCGC

Role: backup

Catherine.WalshVockley@chp.edu

412-692-7349

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Other Identifiers

STUDY19040413

Identifier Type: -

Identifier Source: org_study_id