Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 5 of 279 for:    Genetic Diseases, Inborn AND Genome

Rady Children's Institute Genomic Biorepository

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02917460
Recruitment Status : Recruiting
First Posted : September 28, 2016
Last Update Posted : May 29, 2019
Sponsor:
Information provided by (Responsible Party):
Stephen F. Kingsmore, Rady Pediatric Genomics & Systems Medicine Institute

Brief 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.


Condition or disease Intervention/treatment Phase
Genetic Diseases Genetic: Genomic sequencing and molecular diagnostic results, if any Not Applicable

  Show Detailed Description

Layout table for study information
Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 102000 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Health Services Research
Official Title: Genomic Biorepository: Protocol for the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data
Study Start Date : July 2016
Estimated Primary Completion Date : December 2050
Estimated Study Completion Date : December 2050

Arm Intervention/treatment
Experimental: Enrollees
Enrollment of healthy and affected subjects to collect samples and data for a pediatric genomic Biorepository. Data includes genomic sequencing and resultant molecular diagnostic results, if any.
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.
Other Names:
  • Pediatric Genetic Biorepository
  • Pediatric Precision Care




Primary Outcome Measures :
  1. Number of samples enrolled per year [ Time Frame: Yearly through study completion estimated to be 40 years ]
    Establishment of a Biorepository for genomic/precision medicine use in pediatric population. This will make samples available to study rare genetic disorders, screening methods, diagnostic methods, other "omics", and bench research for possible treatments.


Secondary Outcome Measures :
  1. Proportion of children receiving molecular diagnoses [ Time Frame: Through study completion estimated to be 40 years ]
    Utilize cutting edge technologies to improve both diagnostic rates and time to diagnosis for rare genetic diseases. Symptom driven return of clinical results and analysis of clinical utility.

  2. Time taken to receive molecular diagnosis [ Time Frame: From date of enrollment until the date of documented clinical laboratory diagnosis or date of death from any cause, whichever came first, assessed up to 10 years. ]
  3. Proportion of children in which human phenotype ontology (HPO) terms accurately predict molecular diagnosis [ Time Frame: Through study completion estimated to be 40 years ]


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • All ages, races, genders, ethnicities, and health status will be eligible for participation. Enrollment will include that following vulnerable populations: pregnant women, neonates, fetuses, those with cognitive disabilities, pediatric patients, minorities, and employees.

Exclusion Criteria:

  • None

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02917460


Contacts
Layout table for location contacts
Contact: Christina Clarke, BSN 858-966-8086 cclarke@rchsd.org
Contact: Sara Caylor, BSN 858-966-8198 scaylor@rchsd.org

Locations
Layout table for location information
United States, California
Rady Pediatric Genomics & Systems Medicine Institute Recruiting
San Diego, California, United States, 92123
Contact: Christina Clarke, BSN    858-966-8086    cclarke@rchsd.org   
Contact: Sara Caylor, BSN    858-966-8198    scaylor@rchsd.org   
Sponsors and Collaborators
Rady Pediatric Genomics & Systems Medicine Institute
Investigators
Layout table for investigator information
Principal Investigator: Stephen Kingsmore, MD, MSc Rady Pediatric Genomics & Systems Medicine Institute

Layout table for additonal information
Responsible Party: Stephen F. Kingsmore, President and CEO, Rady Pediatric Genomics & Systems Medicine Institute
ClinicalTrials.gov Identifier: NCT02917460     History of Changes
Other Study ID Numbers: 160468
First Posted: September 28, 2016    Key Record Dates
Last Update Posted: May 29, 2019
Last Verified: May 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: We may share samples and data confidentially with collaborators, such as commercial laboratories or technology companies. All data and sample sharing will be strictly confidential. No identifying information will be shared.
Keywords provided by Stephen F. Kingsmore, Rady Pediatric Genomics & Systems Medicine Institute:
Rady
Pediatric
Genomic
Precision medicine
Biorepository
Additional relevant MeSH terms:
Layout table for MeSH terms
Genetic Diseases, Inborn