Neonatal Spinal Muscular Atrophy (SMA) Screening

Kaohsiung Medical University

Status: Enrolling

Conditions: Spinal Muscular Atrophy

Treatments: Other: SMA Newborn Screening

Study type: Observational

Funder types: Other

Identifiers

NCT03217578

SMA-NBS001

Details and patient eligibility

About

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.

Enrollment: 250,000 estimated patients

Sex: All

Ages: Under 2 weeks old

Volunteers: Accepts Healthy Volunteers

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.