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Clinical Trial Summary

To test if the routine newborn screening dried blood spots can be used to test if missing 2 copies of SMN1 gene, a status indicating spinal muscular atrophy


Clinical Trial Description

Parents of newborns will be invited to test if their newborns are affected with SMA. The routine newborn screening dried blood spots sample will be used to test if missing 2 copies of SMN1 gene. If positive of screening test, further confirmation tests including physical examination and other methology for SMN1 gene copies quantification will be provided. Genetic counseling and treatment option will be provided, too. ;


Study Design

Observational Model: Cohort, Time Perspective: Prospective


Related Conditions & MeSH terms


NCT number NCT02123186
Study type Observational
Source National Taiwan University Hospital
Contact
Status Completed
Phase N/A
Start date October 2013
Completion date October 2016

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