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Rady Children's Institute Genomic Biorepository

NCT02917460 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 102000

Last updated 2022-12-12

No results posted yet for this study

Summary

Rady Children's Institute for Genomic Medicine (RCI) will collect biological samples (such as blood), derived genomic sequences (from DNA and RNA), and clinical features in a Biorepository as a standardized resource for future research studies. The purpose of the Genomic Institute Biorepository is to provide consented samples and data for basic and clinical research related to the genomic cause and treatment of childhood disease, and, in the future, as reference (Quality Control) data to improve the ability to make clinical diagnoses or clinical decisions.

In addition, the Biorepository will provide a mechanism for making a diagnosis of a genetic disease. That is, once genomic sequences have been derived from biological samples, they will be immediately analyzed. If a genetic disease is identified that appears to explain an affected child's clinical features, then those results will be confirmed by the medically accepted standard, and placed in the electronic health record.

Conditions

Interventions

GENETIC

Genomic sequencing and molecular diagnostic results, if any

Samples will be stored in the pediatric genomic Biorepository. A subset of samples will undergo genetic/genomic analysis.

Sponsors & Collaborators

  • Rady Pediatric Genomics & Systems Medicine Institute

    lead OTHER

Principal Investigators

  • Stephen Kingsmore, MD, MSc · Rady Pediatric Genomics & Systems Medicine Institute

Study Design

Allocation
NA
Purpose
HEALTH_SERVICES_RESEARCH
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2016-07-31
Primary Completion
2050-12-31
Completion
2050-12-31

Countries

  • United States

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02917460 on ClinicalTrials.gov