RECRUITINGOBSERVATIONAL
Neonatal Spinal Muscular Atrophy (SMA) Screening
Study on the Neonatal Screening of Spinal Muscular Atrophy
About This Trial
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.
Who May Be Eligible (Plain English)
Who May Qualify:
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.
Who Should NOT Join This Trial:
Parents or legal guardian do not agree to perform SMA newborn screening.
Always talk to your doctor about whether this trial is right for you.
Original Eligibility Criteria
View original clinical language
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.
Treatments Being Tested
OTHER
SMA Newborn Screening
Locations (1)
Kaohsiung Medical University Chung-Ho Memorial Hospital
Kaohsiung City, Taiwan