Collection of genomic samples for childhood genetic diseases
Genomic Biorepository: Protocol for the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data
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
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 102000 (estimated) |
| Sex | All |
| Sponsor | Rady Pediatric Genomics & Systems Medicine Institute Academic / other |
| Locations | 1 site (San Diego, California) |
| Trial ID | NCT02917460 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals of all ages, races, and health statuses, particularly those affected by genetic diseases.
Not a fit: Patients who do not have genetic diseases or are not interested in genomic analysis may not benefit from this study.
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 performed: Other studies utilizing genomic biorepositories have shown promise in advancing the understanding and treatment of genetic conditions, indicating a positive outlook for this approach.
Eligibility criteria
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 this trial is running
San Diego, California
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.