Rady Children's Institute Genomic Biorepository
ConditionGenetic Diseases
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
AgeNot listed
SponsorRady Pediatric Genomics & Systems Medicine Institute
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
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.
Disqualifiers
None
Trial design
Design model
Single group
Treatments tested in this trial
Genomic sequencing and molecular diagnostic results, if any
GeneticSamples will be stored in the pediatric genomic Biorepository. A subset of samples will undergo genetic/genomic analysis.
Treatment groups
102,000 Participants
are divided into 1 treatment groupGroup A: EnrolleesExperimental treatment 1 intervention
Trial outcomes
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.
Time frame
Yearly through study completion estimated to be 40 yearsSecondary outcomes
1
Proportion of children receiving molecular diagnoses
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 frame
Through study completion estimated to be 40 years2
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.3
Proportion of children in which human phenotype ontology (HPO) terms accurately predict molecular diagnosis
Time frame
Through study completion estimated to be 40 yearsSponsors and contacts
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Source ClinicalTrials.gov