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

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ClinicalTrials.gov Identifier: NCT02927158
Recruitment Status : Recruiting
First Posted : October 6, 2016
Last Update Posted : January 22, 2021
Sponsor:
Collaborator:
Horizon Pharma USA, Inc.
Information provided by (Responsible Party):
Lina Ghaloul Gonzalez, University of Pittsburgh

Tracking Information
First Submitted Date September 22, 2016
First Posted Date October 6, 2016
Last Update Posted Date January 22, 2021
Study Start Date August 2016
Estimated Primary Completion Date August 2026   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: October 5, 2016)
Exome and genome sequencing results for clinical diagnosis in participants. [ Time Frame: Within approximately one year for each participant ]
Each participant will be sequenced and DNA data will be analyzed for gene mutations consistent with the clinical symptomatology
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: October 5, 2016)
Exome and genome sequence results for population genetic studies [ Time Frame: Through study completion, approximately 5 years ]
Exome and genome sequencing will be used to evaluate genetic changes in specific communities within the Amish and Mennonite communities. These changes/differences will be compared among the groups to show how population migration and new genetic mutations effect the burden of genetic disease in these populations.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain Community
Official Title Use of Whole Exome Sequencing/Whole Genome Sequencing in the Plain Communities
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.
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Whole blood will be collected and DNA will be isolated and stored. Samples may also be collected on newborn screening filter papers.
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.
Condition Undiagnosed Disease
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: October 5, 2016)
300
Original Estimated Enrollment Same as current
Estimated Study Completion Date August 2030
Estimated Primary Completion Date August 2026   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Any person of Amish or Mennonite descent

Exclusion Criteria:

  • Individuals who are not of Amish or Mennonite descent
Sex/Gender
Sexes Eligible for Study: All
Ages up to 100 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Cate Walsh Vockley, MS, LCGC 412-692-7349 catherine.walshvockley@chp.edu
Contact: Jenifer Baker, MA 412-6926378 jennifer.baker@chp.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02927158
Other Study ID Numbers PRO15110344
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: Yes
Plan Description: Results relevant to the participant's clinical condition will be verified in a CLIA-certified laboratory and reported to the participant.
Responsible Party Lina Ghaloul Gonzalez, University of Pittsburgh
Study Sponsor University of Pittsburgh
Collaborators Horizon Pharma USA, Inc.
Investigators
Principal Investigator: Lina Ghaloul Gonzalez, MD University of Pittsburgh
PRS Account University of Pittsburgh
Verification Date January 2021