Neonatal Spinal Muscular Atrophy (SMA) Screening

Recruiting Observational Study
Spinal Muscular Atrophy
Healthy Volunteers Welcome You do not need to have the condition being studied to take part. No Study Drug Researchers observe your health over time — no experimental treatment is given.
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Review the details below, then apply to join this clinical trial.

At a Glance
Age
0 Weeks – 2 Weeks
Sex
Any
Study type
Observational
Participants needed
250,000 (estimated)
Sponsor
Kaohsiung Medical University Chung-Ho Memorial Hospital · Other
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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 prospe…
Trial Locations
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Eligibility Criteria
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.
Contacts

Yun-Hui Chou

+886972977320

wendychoucrn@gmail.com

CONTACT