Rady Children's Institute Genomic Biorepository

NCT02917460 | Recruiting

• 1 other identifier: 160468
• Study Type: interventional
• Target: 102,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Genetic Diseases

Keywords

Rady; Pediatric; Genomic; Precision medicine; Biorepository

Outcome Measures

Primary Outcomes (1)

• Number of samples enrolled per year

  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.

  Yearly through study completion estimated to be 40 years

Secondary Outcomes (3)

• Proportion of children receiving molecular diagnoses

  Through study completion estimated to be 40 years

• Time taken to receive molecular diagnosis

  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

  Through study completion estimated to be 40 years

Study Arms (1)

Enrollees

EXPERIMENTAL

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

Interventions

Genomic sequencing and molecular diagnostic results, if any GENETIC

Samples will be stored in the pediatric genomic Biorepository. A subset of samples will undergo genetic/genomic analysis.

Also known as: Pediatric Genetic Biorepository, Pediatric Precision Care

Enrollees

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• None

Sponsors & Collaborators

• Rady Pediatric Genomics & Systems Medicine Institute: lead

Study Sites (1)

Rady Pediatric Genomics & Systems Medicine Institute

San Diego, California, 92123, United States

RECRUITING

Related Publications (7)

• 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.

  PMID: 30404926 BACKGROUND

• 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.

  PMID: 31019026 BACKGROUND

• 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.

  PMID: 30755602 BACKGROUND

• 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.

  PMID: 31788263 BACKGROUND

• 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.

  PMID: 31196892 BACKGROUND

• 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.

  PMID: 31246743 BACKGROUND

• 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.

  PMID: 31624069 BACKGROUND

MeSH Terms

Conditions

Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Stephen Kingsmore, MD, MSc

  Rady Pediatric Genomics & Systems Medicine Institute

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Dominic Baun, MBS

CONTACT

858-576-1700; jbaun@rchsd.org

Lauren Olsen, MSN

CONTACT

858-576-1700; lolsen1@rchsd.org

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: President and CEO

Study Record Dates

• First Submitted: August 10, 2016
• First Posted: September 28, 2016
• Study Start: July 1, 2016
• Primary Completion (Estimated): December 1, 2050
• Study Completion (Estimated): December 1, 2050
• Last Updated: December 12, 2022

Record last verified: 2022-12

Data Sharing

• IPD Sharing: Will share

Locations

US (1)