Neonatal Spinal Muscular Atrophy (SMA) Screening
- Conditions
- Spinal Muscular Atrophy
- Registration Number
- NCT03217578
- Brief 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 250000
- Neonates born in Taiwan who receive regular newborn screening suggested by Ministry of Heath and Welfare.
- Parents or legal guardian agree to perform SMA newborn screening.
Parents or legal guardian do not agree to perform SMA newborn screening.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 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
- Secondary Outcome Measures
Name Time Method Number of neonates with confirmed SMA 3 years Neonates with confirmed the deletion of 2 copies of SMN1 gene by MLPA test will be followed till SMA symptoms appear.
Trial Locations
- Locations (1)
Kaohsiung Medical University Chung-Ho Memorial Hospital
🇨🇳Kaohsiung, Taiwan