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
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|
|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|
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.
- 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.
- 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.
- 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. ]
- Proportion of children in which human phenotype ontology (HPO) terms accurately predict molecular diagnosis [ Time Frame: Through study completion estimated to be 40 years ]
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
|Contact: Christina Clarke, BSNemail@example.com|
|Contact: Sara Caylor, BSNfirstname.lastname@example.org|
|Principal Investigator:||Stephen Kingsmore, MD, MSc||Rady Pediatric Genomics & Systems Medicine Institute|