NCT02123186

Newborn Screening for Spinal Muscular Atrophy

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 120,267 (actual)
• Sponsor: National Taiwan University Hospital · Academic / Other
• Sex: All
• Age: 2 Days – 3 Months
• Healthy volunteers: Accepted

Summary

To test if the routine newborn screening dried blood spots can be used to test if missing 2 copies of SMN1 gene, a status indicating spinal muscular atrophy

Detailed description

Parents of newborns will be invited to test if their newborns are affected with SMA. The routine newborn screening dried blood spots sample will be used to test if missing 2 copies of SMN1 gene. If positive of screening test, further confirmation tests including physical examination and other methology for SMN1 gene copies quantification will be provided. Genetic counseling and treatment option will be provided, too.

Conditions

• Spinal Muscular Atrophy

Interventions

Type	Name	Description
OTHER	newborn screening test for SMA	Routine newborn screening dried blood spots sample is used to test if missing 2 copies of SMN1 gene.

Timeline

• Start date: 2013-10-01
• Primary completion: 2016-10-01
• Completion: 2016-10-01
• First posted: 2014-04-25
• Last updated: 2016-11-02

Locations

1 site across 1 country: Taiwan