Neonatal Spinal Muscular Atrophy (SMA) Screening

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.

NCT Number	NCT03217578
Lead Sponsor	Kaohsiung Medical University Chung-Ho Memorial Hospital Collaborators: The Chinese Foundation of Health, Taipei Institute of Pathology
Conditions	Spinal Muscular Atrophy
Enrollment	250,000 participants
Start Date	2017-09-01
Primary Completion	2030-12-31 (estimated)
Study Completion	2030-12-31 (estimated)
Updated on ClinicalTrials.gov	2024-02-16