Genetic Disease Clinical Trial
Official title:
The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment
The eMERGE Network embraces the opportunity to use new methods in genomic medicine, information science, and research participant engagement to identify people at very high risk for specific diseases and recommend individualized approaches to prevention and care. The investigators will conduct a prospective study, with diverse and underserved participants, across ten eMERGE study sites to evaluate clinical implementation of a Genome Informed Risk Assessment (GIRA) tool that combines genetic, family history, and clinical risk information from participants.
The purpose of the study is to determine if providing a Genome Informed Risk Assessment (GIRA) will impact clinical actions taken by providers and patients to manage disease risk and the propensity of participants to develop a disease reported in the GIRA. New tools in Genomic Medicine - polygenic risk scores, monogenic genetic screening tests, platforms to capture family history, and advanced electronic phenotyping - offer the prospect of early identification of people at especially high risk of common diseases. The investigators developed methods to generate integrated genomic risk assessments for ten conditions; a plan to engage, recruit, and retain ~25,000 subjects to receive these assessments; and methods to study outcomes in those designated high risk and those designated non-high risk. By enhancing understanding of new methods to create and deliver integrated genomic risk assessments, this project will enable prevention and early treatment of people at high risk for common diseases. ;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Active, not recruiting |
NCT03548779 -
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
|
N/A | |
| Completed |
NCT03292302 -
Phase 1 Study of ELX-02 in Healthy Adults
|
Phase 1 | |
| Withdrawn |
NCT03658382 -
Virtual Visits for Results Disclosure
|
N/A | |
| Recruiting |
NCT02266615 -
Biobank Clinical Genetics Maastricht (KG01)
|
||
| Recruiting |
NCT02450851 -
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
|
||
| Recruiting |
NCT05472714 -
Educational Video for Genetic Testing
|
N/A | |
| Recruiting |
NCT04285814 -
Technology Development for Noninvasive Prenatal Genetic Diagnosis Using Whole Fetal Cells From Maternal Peripheral Blood
|
||
| Completed |
NCT05443113 -
Young Pectus Excavatum Patients and Genetic Defects
|
||
| Completed |
NCT05655741 -
Modified Delphi for Genomic Bereavement Care
|
||
| Completed |
NCT03847909 -
A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2
|
Phase 2 | |
| Completed |
NCT04584528 -
Implementing an Individualized Pain Plan (IPP) for ED Treatment of VOE's in Sickle Cell Disease
|
N/A | |
| Not yet recruiting |
NCT06048523 -
Prospective Cohort Study of Neurogenetic Diseases
|
N/A | |
| Completed |
NCT02225522 -
Genomic Sequencing in Acutely Ill Neonates
|
N/A | |
| Enrolling by invitation |
NCT06089954 -
Penn Medicine Biobank Return of Results Program
|
N/A | |
| Completed |
NCT03713333 -
Implementing Digital Health in a Learning Health System
|
N/A | |
| Completed |
NCT03309605 -
Phase 1 Study of ELX-02 in Healthy Adult Subjects
|
Phase 1 | |
| Recruiting |
NCT05499091 -
Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
|
N/A | |
| Completed |
NCT04556500 -
Turkish Version of the Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T)
|
||
| Completed |
NCT04556487 -
Turkish Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS)
|
||
| Recruiting |
NCT02551081 -
Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units
|