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Genomic Biorepository for Genetic Disorders

N/A
Recruiting
Led By Stephen Kingsmore, MD, MSc
Research Sponsored by Rady Pediatric Genomics & Systems Medicine Institute
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
Timeline
Screening 3 weeks
Treatment Varies
Follow Up through study completion estimated to be 40 years
Awards & highlights

Study Summary

This trial is collecting biological samples and clinical features from patients in order to create a standardized resource for future research studies on childhood diseases. The repository will also be used to confirm diagnoses of genetic diseases.

Who is the study for?
The Rady Children's Institute Genomic Biorepository is open to individuals of all ages, races, genders, ethnicities, and health statuses. It includes vulnerable groups such as pregnant women, neonates, fetuses, those with cognitive disabilities, children, minorities, and employees. There are no exclusion criteria.Check my eligibility
What is being tested?
This trial involves collecting biological samples for genomic sequencing to research the genetic causes and treatments of childhood diseases. The data may also be used in future as a reference for improving clinical diagnoses or decisions.See study design
What are the potential side effects?
Since this study involves genomic sequencing without direct medical interventions like drugs or surgery there are typically no side effects associated with participating in this type of research.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~through study completion estimated to be 40 years
This trial's timeline: 3 weeks for screening, Varies for treatment, and through study completion estimated to be 40 years for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.
Primary outcome measures
Number of samples enrolled per year
Secondary outcome measures
Proportion of children in which human phenotype ontology (HPO) terms accurately predict molecular diagnosis
Proportion of children receiving molecular diagnoses
Time taken to receive molecular diagnosis

Trial Design

1Treatment groups
Experimental Treatment
Group I: EnrolleesExperimental Treatment1 Intervention
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.

Find a Location

Who is running the clinical trial?

Rady Pediatric Genomics & Systems Medicine InstituteLead Sponsor
8 Previous Clinical Trials
111,853 Total Patients Enrolled
Stephen Kingsmore, MD, MScPrincipal InvestigatorRady Pediatric Genomics & Systems Medicine Institute

Media Library

Genomic sequencing and molecular diagnostic results, if any Clinical Trial Eligibility Overview. Trial Name: NCT02917460 — N/A
Genetic Disorder Research Study Groups: Enrollees
Genetic Disorder Clinical Trial 2023: Genomic sequencing and molecular diagnostic results, if any Highlights & Side Effects. Trial Name: NCT02917460 — N/A
Genomic sequencing and molecular diagnostic results, if any 2023 Treatment Timeline for Medical Study. Trial Name: NCT02917460 — N/A

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

What is the aggregate tally of participants in this research venture?

"Indeed, clinicaltrials.gov data suggests that this medical experiment is now recruiting patients. Originally made public on July 1st 2016, the study was most recently updated on May 24th 2019 and seeks 102000 persons from a single trial centre."

Answered by AI

Is this experiment actively seeking participants at this time?

"Per the details on clinicaltrials.gov, this medical trial is presently seeking patients. It was initially advertised on July 1st 2016 and received its most recent update on May 24th 2019."

Answered by AI
~68000 spots leftby Dec 2050