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Neonatal Spinal Muscular Atrophy (SMA) Screening

Recruiting
- 2 years of age
Both
Phase N/A

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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.

Eligibility

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.

Study details

Spinal Muscular Atrophy

NCT03217578

Kaohsiung Medical University Chung-Ho Memorial Hospital

20 February 2024

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