Actively Recruiting
Neonatal Spinal Muscular Atrophy (SMA) Screening
Led by Kaohsiung Medical University Chung-Ho Memorial Hospital · Updated on 2024-02-16
250000
Participants Needed
1
Research Sites
695 weeks
Total Duration
On this page
Sponsors
K
Kaohsiung Medical University Chung-Ho Memorial Hospital
Lead Sponsor
T
The Chinese Foundation of Health
Collaborating Sponsor
AI-Summary
What this Trial Is 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.
CONDITIONS
Official Title
Neonatal Spinal Muscular Atrophy (SMA) Screening
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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
You will not qualify if you...
- Parents or legal guardian do not agree to perform SMA newborn screening
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Kaohsiung Medical University Chung-Ho Memorial Hospital
Kaohsiung City, Taiwan, 807
Actively Recruiting
Research Team
Y
Yun-Hui Chou
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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