Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
RECRUITING
NA
102000 participants
INTERVENTIONAL
2016-07-31
2050-12-31
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
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
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
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.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Keywords
Explore important study keywords that can help with search, categorization, and topic discovery.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
NA
SINGLE_GROUP
HEALTH_SERVICES_RESEARCH
NONE
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
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.
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.
Interventions
Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.
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 Intervention Names
Discover alternative or legacy names that may be used to describe the listed interventions across different sources.
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
Exclusion Criteria
ALL
Yes
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Rady Pediatric Genomics & Systems Medicine Institute
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Stephen F. Kingsmore
President and CEO
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Stephen Kingsmore, MD, MSc
Role: PRINCIPAL_INVESTIGATOR
Rady Pediatric Genomics & Systems Medicine Institute
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Rady Pediatric Genomics & Systems Medicine Institute
San Diego, California, United States
Countries
Review the countries where the study has at least one active or historical site.
Central Contacts
Reach out to these primary contacts for questions about participation or study logistics.
Facility Contacts
Find local site contact details for specific facilities participating in the trial.
Dominic Baun, MBS
Role: primary
Lauren Olsen, MSN
Role: backup
References
Explore related publications, articles, or registry entries linked to this study.
Briggs B, James KN, Chowdhury S, Thornburg C, Farnaes L, Dimmock D, Kingsmore SF; RCIGM Investigators. Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003525. doi: 10.1101/mcs.a003525. Print 2018 Dec.
Clark MM, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K, Ellsworth K, Camp B, Kint CI, Yacoubian C, Farnaes L, Bainbridge MN, Beebe C, Braun JJA, Bray M, Carroll J, Cakici JA, Caylor SA, Clarke C, Creed MP, Friedman J, Frith A, Gain R, Gaughran M, George S, Gilmer S, Gleeson J, Gore J, Grunenwald H, Hovey RL, Janes ML, Lin K, McDonagh PD, McBride K, Mulrooney P, Nahas S, Oh D, Oriol A, Puckett L, Rady Z, Reese MG, Ryu J, Salz L, Sanford E, Stewart L, Sweeney N, Tokita M, Van Der Kraan L, White S, Wigby K, Williams B, Wong T, Wright MS, Yamada C, Schols P, Reynders J, Hall K, Dimmock D, Veeraraghavan N, Defay T, Kingsmore SF. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation. Sci Transl Med. 2019 Apr 24;11(489):eaat6177. doi: 10.1126/scitranslmed.aat6177.
Friedman J, Smith DE, Issa MY, Stanley V, Wang R, Mendes MI, Wright MS, Wigby K, Hildreth A, Crawford JR, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, James KN, Musaev D, Accogli A, Guerrero K, Tran LT, Omar TEI, Ben-Omran T, Dimmock D, Kingsmore SF, Salomons GS, Zaki MS, Bernard G, Gleeson JG. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun. 2019 Feb 12;10(1):707. doi: 10.1038/s41467-018-07067-3.
Kadakia S, Farnaes L, Dimmock D, Chowdhury S, Ding Y, Anderson EJ, Kingsmore S, Newfield RS. Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy. Clin Case Rep. 2019 Sep 27;7(11):2123-2127. doi: 10.1002/ccr3.2438. eCollection 2019 Nov.
Laurenzano SE, McFall C, Nguyen L, Savla D, Coufal NG, Wright MS, Tokita M, Dimmock D, Kingsmore SF, Newfield RS. Neonatal diabetes mellitus due to a novel variant in the INS gene. Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4):a004085. doi: 10.1101/mcs.a004085. Print 2019 Aug.
Sanford EF, Clark MM, Farnaes L, Williams MR, Perry JC, Ingulli EG, Sweeney NM, Doshi A, Gold JJ, Briggs B, Bainbridge MN, Feddock M, Watkins K, Chowdhury S, Nahas SA, Dimmock DP, Kingsmore SF, Coufal NG; RCIGM Investigators. Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU. Pediatr Crit Care Med. 2019 Nov;20(11):1007-1020. doi: 10.1097/PCC.0000000000002056.
Tokita MJ, Nahas S, Briggs B, Malicki DM, Mesirov JP, Reyes IAC, Farnaes L, Levy ML, Kingsmore SF, Dimmock D, Crawford JR, Wechsler-Reya RJ. Biallelic loss of GNAS in a patient with pediatric medulloblastoma. Cold Spring Harb Mol Case Stud. 2019 Oct 23;5(5):a004572. doi: 10.1101/mcs.a004572. Print 2019 Oct.
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
160468
Identifier Type: -
Identifier Source: org_study_id