Rady Children's Institute Genomic Biorepository
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ClinicalTrials.gov Identifier: NCT02917460 |
Recruitment Status :
Recruiting
First Posted : September 28, 2016
Last Update Posted : December 12, 2022
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Tracking Information | |||||||||
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First Submitted Date ICMJE | August 10, 2016 | ||||||||
First Posted Date ICMJE | September 28, 2016 | ||||||||
Last Update Posted Date | December 12, 2022 | ||||||||
Actual Study Start Date ICMJE | July 2016 | ||||||||
Estimated Primary Completion Date | December 2050 (Final data collection date for primary outcome measure) | ||||||||
Current Primary Outcome Measures ICMJE |
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.
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Original Primary Outcome Measures ICMJE | Same as current | ||||||||
Change History | |||||||||
Current Secondary Outcome Measures ICMJE |
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Original Secondary Outcome Measures ICMJE | Same as current | ||||||||
Current Other Pre-specified Outcome Measures | Not Provided | ||||||||
Original Other Pre-specified Outcome Measures | Not Provided | ||||||||
Descriptive Information | |||||||||
Brief Title ICMJE | Rady Children's Institute Genomic Biorepository | ||||||||
Official Title ICMJE | Genomic Biorepository: Protocol for the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data | ||||||||
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. |
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Detailed Description | 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 Genomics 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 decision. A diverse Biorepository of biological samples and clinical data is essential to allow these studies to undertake broad and detailed comparisons. In particular, a large Biorepository will allow Institute-affiliated researchers to identify new causes of diseases or treatment responses in many of the understudied ethnic and racial groups that Rady Children's Hospital, San Diego (RCHSD) serves. Specifically, the Biorepository, via subsequent individual research protocols, will enable research to improve rates of clinical diagnoses for enrolled subjects and subsequently all affected patients, improve testing capabilities offered to patients, enhance understanding of the mechanisms of disease and treatment responses, and improve clinical management of these diseases. The Biorepository will enroll affected and unaffected individuals and family members, or affected and unaffected tissues, for the purposes of analysis and comparison in order to identify the underlying cause of the disease or treatment in the affected samples. Samples and data will be stored indefinitely and shared with approved researchers to further understanding of genomic components of pediatric diseases. 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 in a manner that is compliant with the Clinical Laboratory Improvements Act (CLIA) and College of American Pathologist (CAP) recommendations, and placed in the electronic health record (EHR). Samples confirmed by CLIA and CAP methods will be identified as such and retained for future confirmatory investigations. Specific Aims
The investigator will plan to enroll 3000 subjects per year. Following informed consent, the study team will collect a family history and blood samples. The investigator will collect clinical information from the medical record at the time of enrollment and longitudinally to assess changes in the subject's medical condition as well as collect new symptoms. The study team will scavenge tissue and other biological materials obtained from clinical procedures as indicated by clinical presentation and for future research testing. |
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Study Type ICMJE | Interventional | ||||||||
Study Phase ICMJE | Not Applicable | ||||||||
Study Design ICMJE | Allocation: N/A Intervention Model: Single Group Assignment Masking: None (Open Label) Primary Purpose: Health Services Research |
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Condition ICMJE | Genetic Diseases | ||||||||
Intervention ICMJE | 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:
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Study Arms ICMJE | 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.
Intervention: Genetic: Genomic sequencing and molecular diagnostic results, if any
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Publications * |
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |||||||||
Recruitment Status ICMJE | Recruiting | ||||||||
Estimated Enrollment ICMJE |
102000 | ||||||||
Original Estimated Enrollment ICMJE | Same as current | ||||||||
Estimated Study Completion Date ICMJE | December 2050 | ||||||||
Estimated Primary Completion Date | December 2050 (Final data collection date for primary outcome measure) | ||||||||
Eligibility Criteria ICMJE | Inclusion Criteria:
Exclusion Criteria:
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Sex/Gender ICMJE |
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Ages ICMJE | Child, Adult, Older Adult | ||||||||
Accepts Healthy Volunteers ICMJE | Yes | ||||||||
Contacts ICMJE |
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Listed Location Countries ICMJE | United States | ||||||||
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Administrative Information | |||||||||
NCT Number ICMJE | NCT02917460 | ||||||||
Other Study ID Numbers ICMJE | 160468 | ||||||||
Has Data Monitoring Committee | No | ||||||||
U.S. FDA-regulated Product | Not Provided | ||||||||
IPD Sharing Statement ICMJE |
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Current Responsible Party | Stephen F. Kingsmore, Rady Pediatric Genomics & Systems Medicine Institute | ||||||||
Original Responsible Party | Same as current | ||||||||
Current Study Sponsor ICMJE | Rady Pediatric Genomics & Systems Medicine Institute | ||||||||
Original Study Sponsor ICMJE | Same as current | ||||||||
Collaborators ICMJE | Not Provided | ||||||||
Investigators ICMJE |
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PRS Account | Rady Pediatric Genomics & Systems Medicine Institute | ||||||||
Verification Date | December 2022 | ||||||||
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP |