NCT03385876
Rapid Whole Genome Sequencing Study
Enrolling by Invitation
NAAll AgesInterventionalDiagnosticRady Pediatric Genomics & Systems Medicine InstituteInvestigator-initiated
~100,000 participants
Updated 2021-12-23 on ClinicalTrials.gov
What's tested:Genomic sequencing and molecular diagnostic results, if any
At a glance
Recruiting sites
0 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Number of samples enrolled per year
Measured over Yearly through study completion estimated to be 40 years.
Conditions
Where it's being run
1 sites across 1 statesCalifornia1
Study leadership
- David Dimmock, MD · PRINCIPAL_INVESTIGATOR · Rady Pediatric Genomics & Systems Medicine Institute
- Stephen Kingsmore · STUDY_DIRECTOR · Rady Pediatric Genomics & Systems Medicine Institute
Who to contact
This trial hasn't published a contact. View it on ClinicalTrials.gov
Do you actually qualify for this trial?
Add a private profile and we'll compare every criterion below against your situation — and tell you which ones are met, uncertain, or excluding.
Eligibility criteria
Inclusion
The Repository will be comprised of samples from symptomatic patients, individuals reported to be their (symptomatic or asymptomatic) biologic family members, and control individuals. In this context a "symptomatic patient" is characterized as a patient whose treating physician has identified phenotypic features and/or signs of illness potentially attributable to a genetic disorder (also referred to as "Affected" or "Proband"). There will be no age, gender, race, or health restrictions for this Biorepository Study. However, since this study will be performed at children's hospitals and since genetic disorders are more likely to be present in children less than 4 months of age these cases will likely be preferentially enrolled. Preference will also be given to those who are acutely ill, suspected of a genetic condition, and for whom a diagnosis may result in change of clinical management.
Exclusion
Participants will be excluded if they are unwilling to consent to research.
What this trial measures
- Number of samples enrolled per yearYearly 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.