Newborn Screening for Spinal Muscular Atrophy

Status Completed

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

Clinical Trial Details

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

View Details

See also
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