Genetic analysis of undiagnosed diseases in Plain Communities
Use of Whole Exome Sequencing/Whole Genome Sequencing in the Plain Communities
This study is trying to find the genetic causes of undiagnosed health issues in the Old Order Amish and Mennonite communities to improve diagnosis and treatment for those affected.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Ages | N/A to 100 Years |
| Sex | All |
| Sponsor | University of Pittsburgh Academic / other |
| Locations | 1 site (Pittsburgh, Pennsylvania) |
| Trial ID | NCT02927158 on ClinicalTrials.gov |
What this trial studies
This study aims to use whole exome and genome sequencing to uncover genetic causes of undiagnosed disorders within the Old Order Amish and Mennonite populations. By identifying genetic defects in individuals with clinical features suggestive of Mendelian disorders, the research seeks to establish a Translational Medicine Program that enhances diagnostic strategies and reduces costs for these communities. The study will also explore population genetics to understand genetic drift and founder mutations, ultimately improving clinical interventions and health outcomes for participants.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals of Amish or Mennonite descent who have undiagnosed genetic disorders.
Not a fit: Patients who are not of Amish or Mennonite descent will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and treatment options for individuals with undiagnosed genetic disorders in the Plain Communities.
How similar studies have performed: Other studies utilizing genetic sequencing in similar populations have shown promise, indicating potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Any person of Amish or Mennonite descent Exclusion Criteria: * Individuals who are not of Amish or Mennonite descent
Where this trial is running
Pittsburgh, Pennsylvania
- Children's Hospital of Pittsburgh of UPMC — Pittsburgh, Pennsylvania, United States (Recruiting)
Study contacts
- Principal investigator: Lina Ghaloul Gonzalez, MD — University of Pittsburgh
- Study coordinator: Cate Walsh Vockley, MS, LCGC
- Email: catherine.walshvockley@chp.edu
- Phone: 412-692-7349
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.