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.
Quick facts
| Study type | Interventional |
|---|---|
| Sex | All |
| Enrollment | 102000 (estimated) |
| Sponsor | Rady Pediatric Genomics & Systems Medicine Institute Academic / other |
| Locations | 1 site (San Diego, California) |
| Status | Recruiting |
| Started | July 2016 |
| Main results expected | December 2050 |
| Study ends | December 2050 |
| Registry record updated | December 12, 2022 |
| Trial ID | NCT02917460 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.
-
HSCT outcomes in children at Ramathibodi Hospital
This study tests how hematopoietic stem cell transplantation works in pediatric patients with blood diseases, cancers, and other conditions at Ramathibodi Hospital.
-
AOC 1044 in Duchenne Muscular Dystrophy with Exon 44 Skipping
This study tests whether intravenous AOC 1044 helps boys with Duchenne muscular dystrophy caused by mutations amenable to exon 44 skipping.
-
Long-term monitoring of adults with type I interferon autoantibodies or genetic interferon defects
We will follow adults who have autoantibodies to type I interferons or genetic defects that impair interferon responses to see if they develop more infections or autoimmune problems and how antibody levels change over time.
-
Natural history of PKP2-related arrhythmogenic cardiomyopathy
This project will collect past and ongoing health information to see how PKP2-related arrhythmogenic cardiomyopathy progresses in people managed with standard care.
-
Characterizing genetic diseases affecting the immune and neurological systems
This study is trying to learn more about rare genetic diseases that affect the immune and nervous systems to help find better ways to diagnose and treat them.
-
Identifying genetic and metabolic diseases in children
This study is trying to find new genetic causes of rare diseases in children by looking closely at their genes and metabolism.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.