Newborn Screening for Spinal Muscular Atrophy

Completed

• Conditions: Spinal Muscular Atrophy
• Interventions: Other: newborn screening test for SMA

• Registration Number: NCT02123186
• Lead Sponsor: National Taiwan University Hospital

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 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 Timeline

• Study Start: 2013-10
• Study First Submitted: 2014-04-21
• Study First Submitted QC: 2014-04-23
• Study First Posted: 2014-04-25
• Status Verified: 2016-04
• Primary Completion: 2016-10
• Study Completion: 2016-10
• Last Update Submitted: 2016-10-31
• Last Update Posted: 2016-11-02

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 120267

Inclusion Criteria

• Babies born in Taiwan receive regular new born screening suggested by Ministry of Heath and Welfare.
• Parents or Legal Guardian sign in the informed consent form.

Exclusion Criteria

• Parents or Legal Guardian do not agree to sign in the informed consent form.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
newborns testing for SMA	newborn screening test for SMA	-

Primary Outcome Measures

Name	Time	Method
numbers of newborn with spinal muscular atrophy	18 months

Trial Locations

Locations (1)

National Taiwan University Hospital; 🇨🇳 Taipei, Taiwan,, Taiwan