NCT03217578

Neonatal Spinal Muscular Atrophy (SMA) Screening

Study on the Neonatal Screening of Spinal Muscular Atrophy

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 250,000 (estimated)
• Sponsor: Kaohsiung Medical University Chung-Ho Memorial Hospital · Academic / Other
• Sex: All
• Age: 0 Weeks – 2 Weeks
• Healthy volunteers: Accepted

Summary

Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA. The dried blood spots of routine newborn screening samples will be used to test if neonates have lost 2 copies of SMN1 gene. If neonates have positive SMA screening test, further confirmation with multiplex ligation-dependent probe amplification (MLPA) test and prospective motor function monitoring including physical and neurological examinations will be proved to make SMA confirmation. For any confirmed SMA patient, genetic counseling and standard of care will be proved.

Conditions

• Spinal Muscular Atrophy

Interventions

Type	Name	Description
OTHER	SMA Newborn Screening

Timeline

• Start date: 2017-09-01
• Primary completion: 2030-12-31
• Completion: 2030-12-31
• First posted: 2017-07-14
• Last updated: 2024-02-16

Locations

1 site across 1 country: Taiwan