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

NCT02927158 | Recruiting

• 1 other identifier: STUDY19040413
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

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

Outcome Measures

Primary Outcomes (1)

• Exome and genome sequencing results for clinical diagnosis in participants.

  Each participant will be sequenced and DNA data will be analyzed for gene mutations consistent with the clinical symptomatology

  Within approximately one year for each participant

Secondary Outcomes (1)

• Exome and genome sequence results for population genetic studies

  Through study completion, approximately 5 years

Eligibility Criteria

• Age: Up to 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Families of Amish/Mennonite background which include at least one individual with a clinical phenotype and a pedigree suggestive of genetic disease will be considered for the undiagnosed disease portion of the study. Initial outreach will be to Plain Communities in western Pennsylvania, but all Pain Community members are eligible as long as they have been evaluated by a local clinical geneticist. Any individual (and their family members) from the Plain Community is eligible for the population based studies of founder effects and genetic drift.

You may qualify if:

• Any person of Amish or Mennonite descent

You may not qualify if:

• Individuals who are not of Amish or Mennonite descent

Sponsors & Collaborators

• University of Pittsburgh: lead
• Horizon Pharma USA, Inc.: collaborator

Study Sites (1)

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, 15224, United States

RECRUITING

Related Publications (19)

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Biospecimen

Retention: SAMPLES WITH DNA

Whole blood will be collected and DNA will be isolated and stored. Samples may also be collected on newborn screening filter papers.

MeSH Terms

Conditions

Undiagnosed Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Lina Ghaloul Gonzalez, MD

  University of Pittsburgh

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Cate Walsh Vockley, MS, LCGC

CONTACT

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

Jenifer Baker, MA

CONTACT

412-6926378; jennifer.baker@chp.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: September 22, 2016
• First Posted: October 6, 2016
• Study Start: August 1, 2016
• Primary Completion (Estimated): August 1, 2036
• Study Completion (Estimated): August 1, 2040
• Last Updated: March 10, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will share

Locations

US (1)