Spinal Muscular Atrophy
Conditions
Keywords
Spinal Muscular Atrophy, Newborn Screening
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.
Interventions
OTHERSMA Newborn Screening
Sponsors
The Chinese Foundation of Health
Taipei Institute of Pathology
Kaohsiung Medical University Chung-Ho Memorial Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
0 Weeks to 2 Weeks
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
Taiwan
Contacts
Primary ContactYun-Hui Chou
Outcome results
None listed