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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 : May 29, 2019
Sponsor:
Information provided by (Responsible Party):
Stephen F. Kingsmore, Rady Pediatric Genomics & Systems Medicine Institute

Tracking Information
First Submitted Date  ICMJE August 10, 2016
First Posted Date  ICMJE September 28, 2016
Last Update Posted Date May 29, 2019
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
 (submitted: September 26, 2016)
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.
Original Primary Outcome Measures  ICMJE Same as current
Change History
Current Secondary Outcome Measures  ICMJE
 (submitted: September 26, 2016)
  • 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 ]
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.

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

  1. To collect biological samples and associated clinical data (Phenome).
  2. To create, analyze and store genomic data from the biological samples. Genomic data will include genome (DNA) sequences, RNA sequences, and/or other related 'omic data (including pharmacogenomics, transcriptomics, epigenetics, and the microbiome). Some genomic data will be whole genome sequences. For other samples the genomic data will be panels of specific genes or of all exons of genes (the "Exome").
  3. To investigate and improve genomics technologies and software to enhance understanding and testing abilities related to childhood diseases and treatment responses.
  4. To make specimens and data available for qualified researchers and collaborators to further the understanding of childhood diseases and treatment responses.
  5. To collect and correlate genomic data from a wide variety of populations and clinical presentations.
  6. To provide sample and data collections with uniform consent, methods of acquisition, storage for genome-based research studies with subsequent IRB approvals.
  7. To analyze and report clinically-confirmed genomic diagnoses and treatment guidance through use of new research technologies.
  8. To identify and study novel gene and disease processes.

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.

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
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:
  • Pediatric Genetic Biorepository
  • Pediatric Precision Care
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
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Recruiting
Estimated Enrollment  ICMJE
 (submitted: September 26, 2016)
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:

  • 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
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE Child, Adult, Older Adult
Accepts Healthy Volunteers  ICMJE Yes
Contacts  ICMJE
Contact: Christina Clarke, BSN 858-966-8086 cclarke@rchsd.org
Contact: Sara Caylor, BSN 858-966-8198 scaylor@rchsd.org
Listed Location Countries  ICMJE United States
Removed Location Countries  
 
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
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.
Responsible Party Stephen F. Kingsmore, Rady Pediatric Genomics & Systems Medicine Institute
Study Sponsor  ICMJE Rady Pediatric Genomics & Systems Medicine Institute
Collaborators  ICMJE Not Provided
Investigators  ICMJE
Principal Investigator: Stephen Kingsmore, MD, MSc Rady Pediatric Genomics & Systems Medicine Institute
PRS Account Rady Pediatric Genomics & Systems Medicine Institute
Verification Date May 2019

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP