Neonatal Spinal Muscular Atrophy (SMA) Screening

Condition(s) studied

Investigational drug(s) / intervention(s)

Study 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.

Eligibility

Primary outcome measure(s)

• Number of neonates with confirmed the deletion of 2 copies of SMN1 gene — 3 years
  Neonates with positive SMA newborn screening will be confirmed by multiplex ligation-dependent probe amplification (MLPA) test

Trial sites (1)

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