RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Use of Whole Exome Sequencing/Whole Genome Sequencing in the Plain Communities

Quick Facts

Study Start:2016-08
Study Completion:2030-08
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT02927158

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified to 100 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Any person of Amish or Mennonite descent
  1. * Individuals who are not of Amish or Mennonite descent

Contacts and Locations

Study Contact

Cate Walsh Vockley, MS, LCGC
CONTACT
412-692-7349
catherine.walshvockley@chp.edu
Jenifer Baker, MA
CONTACT
412-6926378
jennifer.baker@chp.edu

Principal Investigator

Lina Ghaloul Gonzalez, MD
PRINCIPAL_INVESTIGATOR
University of Pittsburgh

Study Locations (Sites)

Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, 15224
United States

Collaborators and Investigators

Sponsor: University of Pittsburgh

  • Lina Ghaloul Gonzalez, MD, PRINCIPAL_INVESTIGATOR, University of Pittsburgh

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2016-08
Study Completion Date2030-08

Study Record Updates

Study Start Date2016-08
Study Completion Date2030-08

Terms related to this study

Additional Relevant MeSH Terms

  • Undiagnosed Disease