Clinical Research Directory

Neonatal Spinal Muscular Atrophy (SMA) Screening

Sponsor: Kaohsiung Medical University Chung-Ho Memorial Hospital

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.

Official title: Study on the Neonatal Screening of Spinal Muscular Atrophy

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Interventions

Locations (1)