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Neonatal Spinal Muscular Atrophy (SMA) Screening — SMA  

Spinal Muscular Atrophy Clinical Trial

Official title:
Study on the Neonatal Screening of Spinal Muscular Atrophy

Clinical Trial 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.

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT03217578
Study type Observational
Source Kaohsiung Medical University Chung-Ho Memorial Hospital
Contact Yun-Hui Chou
Phone +886972977320
Email wendychoucrn@gmail.com
Status Recruiting
Phase
Start date September 1, 2017
Completion date December 31, 2030
View Details
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