Genomic screening for rare diseases in newborns
Genomic Uniformed-Screening Against Rare Disease In All Newborns
This study is testing if using advanced genetic testing for newborns can help find rare diseases earlier so that families can get support and treatment options sooner.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 100000 (estimated) |
| Ages | 1 Day to 1 Month |
| Sex | All |
| Sponsor | Columbia University Academic / other |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT05990179 on ClinicalTrials.gov |
What this trial studies
This study aims to explore the use of genomic sequencing technology to expand the range of conditions screened in newborns beyond the standard newborn screening panel. Families will have the option to participate in additional screenings for conditions that may have effective treatments available or for which early intervention could improve outcomes. The study emphasizes equity in healthcare by ensuring all newborns have access to potentially life-saving information. Collaboration among parents, hospitals, and health departments is essential for the successful implementation of this expanded screening approach.
Who should consider this trial
Good fit: Ideal candidates for this study are newborns admitted to well-baby nurseries who are born after 33 weeks of gestation and whose parents speak English, Mandarin, or Spanish.
Not a fit: Patients who may not benefit from this study include those born before 33 weeks of gestation or whose parents do not speak the eligible languages.
Why it matters
Potential benefit: If successful, this could lead to earlier detection and treatment of rare genetic conditions in newborns, improving health outcomes.
How similar studies have performed: Other studies have shown promise in using genomic sequencing for newborn screening, indicating a growing interest and potential in this area.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Newborns admitted to the well-baby nurseries from the recruiting hospitals * Newborns born after 33 weeks of gestation * Newborns whose parents are English, Mandarin, or Spanish speaking
Where this trial is running
New York, New York
- Columbia University Irving Medical Center/NYP — New York, New York, United States (Recruiting)
Study contacts
- Principal investigator: Wendy K. Chung, MD, PhD — Boston Children's Hospital
- Study coordinator: Anah Hetzler
- Email: ak3578@cumc.columbia.edu
- Phone: 212-305-5508
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.