Neonatal Spinal Muscular Atrophy (SMA) Screening

Kaohsiung Medical University Chung-Ho Memorial Hospital250,000 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

250,000

Conditions

Spinal Muscular Atrophy

Interventions

SMA Newborn ScreeningOTHER

Eligibility

Sex: ALLMin age: 0 WeeksMax age: 2 WeeksHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: 1. Neonates born in Taiwan who receive regular newborn screening suggested by Ministry of Heath and Welfare. 2. Parents or legal guardian agree to perform SMA newborn screening. Exclusion Criteria: Parents or legal guardian do not agree to perform SMA newborn screening.

Outcomes

Primary Outcomes

Number of neonates with confirmed the deletion of 2 copies of SMN1 gene

Neonates with positive SMA newborn screening will be confirmed by multiplex ligation-dependent probe amplification (MLPA) test

Time frame: 3 years

Secondary Outcomes

Number of neonates with confirmed SMA

Neonates with confirmed the deletion of 2 copies of SMN1 gene by MLPA test will be followed till SMA symptoms appear.