Clinical trial Recruiting at 1 site Interventional

Collection of genomic samples for childhood genetic diseases

Official title: Genomic Biorepository: Protocol for the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data

Run by Rady Pediatric Genomics & Systems Medicine Institute · NCT02917460 · Data updated 2026-11-12

This study is collecting genetic samples from children with genetic diseases to help find better ways to diagnose and treat these conditions in the future.

More Genetic Diseases trials

Quick facts

Study typeInterventional
SexAll
Enrollment102000 (estimated)
SponsorRady Pediatric Genomics & Systems Medicine Institute
Academic / other
Locations1 site (San Diego, California)
StatusRecruiting
StartedJuly 2016
Main results expectedDecember 2050
Study endsDecember 2050
Registry record updatedDecember 12, 2022
Trial IDNCT02917460 on ClinicalTrials.gov

Is this trial a fit for you?

Likely a good fit

Ideal candidates include individuals of all ages, races, and health statuses, particularly those affected by genetic diseases.

Probably not a fit

Patients who do not have genetic diseases or are not interested in genomic analysis may not benefit from this study.

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

The Rady Children's Institute for Genomic Medicine is establishing a biorepository to collect biological samples and genomic sequences from children with genetic diseases. This resource will facilitate future research aimed at understanding the genomic causes and treatments for childhood diseases. The biorepository will also enable immediate analysis of genomic data to assist in diagnosing genetic conditions, with results integrated into patients' electronic health records. By including a diverse population, the initiative aims to enhance the understanding of genetic diseases across various ethnic and racial groups.

Why it matters

Potential benefit: If successful, this initiative could significantly improve the diagnosis and treatment of genetic diseases in children.

How similar studies have gone: Other studies utilizing genomic biorepositories have shown promise in advancing the understanding and treatment of genetic conditions, indicating a positive outlook for this approach.

Who can join: the full rules

Show full inclusion / exclusion criteria
Inclusion Criteria:

* 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.

Exclusion Criteria:

* None

Where it's running

  • Rady Pediatric Genomics & Systems Medicine Institute
    San Diego, California, United States
    Recruiting

Study contacts

  • Principal investigator: Stephen Kingsmore, MD, MSc — Rady Pediatric Genomics & Systems Medicine Institute
  • Study coordinator: Dominic Baun, MBS
  • Email: jbaun@rchsd.org
  • Phone: 858-576-1700

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.