Clinical Trial: Newborn Screening for Spinal Muscular Atrophy

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Newborn Screening for Spinal Muscular Atrophy

Brief 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

Detailed Summary: 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.
Sponsor: National Taiwan University Hospital

Current Primary Outcome: numbers of newborn with spinal muscular atrophy [ Time Frame: 18 months ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: National Taiwan University Hospital

Dates:
Date Received: April 21, 2014
Date Started: October 2013
Date Completion:
Last Updated: October 31, 2016
Last Verified: April 2016