Neonatal screening program for spinal muscular atrophy
Activation of the Spinal Muscular Atrophy Neonatal Screening Program and Integration With Cystic Fibrosis Screening. Feasibility Study
This study is testing a newborn screening program to find babies at risk for spinal muscular atrophy so they can get early help and better care.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 11500 (estimated) |
| Ages | 48 Hours to 72 Hours |
| Sex | All |
| Sponsor | IRCCS Burlo Garofolo Academic / other |
| Locations | 2 sites (Monfalcone, Gorizia and 1 other locations) |
| Trial ID | NCT06310421 on ClinicalTrials.gov |
What this trial studies
This program aims to screen newborns for spinal muscular atrophy (SMA), a genetic disorder that leads to the degeneration of motor neurons and can result in severe disability or infant mortality. The screening will identify infants at risk for SMA, particularly those with homozygous deletions of the SMN1 gene, which is responsible for most cases. By detecting SMA early, the program seeks to facilitate timely interventions and improve outcomes for affected infants. The study will be observational, focusing on live births in participating neonatal and pediatric centers.
Who should consider this trial
Good fit: Ideal candidates for this program are newborns delivered in the participating neonatal and pediatric centers.
Not a fit: Patients who do not have signed consent from their parents will not benefit from this screening program.
Why it matters
Potential benefit: If successful, this program could lead to earlier diagnosis and treatment of spinal muscular atrophy, significantly improving the quality of life for affected infants.
How similar studies have performed: Other studies have shown success with similar newborn screening approaches for genetic disorders, indicating potential for positive outcomes in this program.
Eligibility criteria
Show full inclusion / exclusion criteria
INCLUSION CRITERIA • Live births in the neonatologies and paediatric centers involved in the study. EXCLUSION CRITERIA • No consent signed by parents.
Where this trial is running
Monfalcone, Gorizia and 1 other locations
- SC Pediatria Gorizia - Monfalcone — Monfalcone, Gorizia, Italy (Recruiting)
- Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" — Trieste, Italy (Recruiting)
Study contacts
- Study coordinator: Sheila Ulivi
- Email: sheila.ulivi@burlo.trieste.it
- Phone: 39 0403785226
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.