Genomic screening for newborns to detect rare genetic diseases
Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
This study is testing a new way to screen newborns for 126 rare genetic diseases right after birth to help catch and treat them early.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 6000 (estimated) |
| Ages | N/A to 28 Days |
| Sex | All |
| Sponsor | Centre Hospitalier Universitaire de Liege Academic / other |
| Locations | 1 site (Liege, Wallonia) |
| Trial ID | NCT05687474 on ClinicalTrials.gov |
What this trial studies
The Baby Detect project is an innovative newborn screening program that utilizes a panel of target sequencing to identify 126 treatable severe early onset genetic diseases at birth. By analyzing dried blood spots collected from newborns within the first 28 days of life, the program aims to facilitate early diagnosis and treatment of conditions such as Congenital Adrenal Hyperplasia and Cystic Fibrosis. This initiative builds on previous successful screening efforts for Spinal Muscular Atrophy, with the goal of screening up to 40,000 newborns annually over three years. The program emphasizes the importance of early intervention to improve patient outcomes and quality of life.
Who should consider this trial
Good fit: Ideal candidates for this program are newborns between birth and 28 days of life whose parents provide consent for participation.
Not a fit: Patients who are older than 28 days or whose parents do not consent will not benefit from this screening program.
Why it matters
Potential benefit: If successful, this program could significantly reduce the incidence of severe disabilities and improve the quality of life for affected newborns through early treatment.
How similar studies have performed: Previous studies in genetic newborn screening, particularly for conditions like Spinal Muscular Atrophy, have shown success in early detection and treatment, indicating a promising approach for this program.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * newborn between birth and 28 days of life * consent of parent Exclusion Criteria: * + 28 days * Non consent of parent
Where this trial is running
Liege, Wallonia
- CRMN, Hôpital La Citadelle — Liege, Wallonia, Belgium (Recruiting)
Study contacts
- Principal investigator: Laurent Servais — Centre Hospitalier Universitaire de Liege
- Study coordinator: Tamara Dangouloff
- Email: tamara.dangouloff@uliege.be
- Phone: +33662438138
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.