SMA Newborn Mass-Screening Pilot Study in Japan: Validation of Novel Mass-Screening System for Detection of SMN1 Gene Deletion/Mutatio

Phase 4

• Conditions: Spinal Muscular Atrophy(SMA)

• Registration Number: JPRN-UMIN000030387
• Lead Sponsor: Division of Epidemiology, Graduate School of Medicine, Kobe University, Japan and Biogen Japan. Co. ltd.

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2017-12-25
• Study Completion: 2020-11-30
• Last Update Posted: 17 October 2023

Recruitment & Eligibility

• Status: Complete: follow-up complete
• Sex: All
• Target Recruitment: 20100

Inclusion Criteria

Not provided

Exclusion Criteria

-Any DNA samples and DBS samples that do not have consent for study participation.

Study & Design

• Study Type: Others,meta-analysis etc
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
-Sensitivity, specificity -Predictive positive and negative values of SMN1 gene deletion.

Secondary Outcome Measures

Name	Time	Method
-Numbers of SMN1 gene deletion/non-deletion sample -Screening failure rate (unable to perform screening due to poor sample DNA amount/quality) -Cost effectiveness (cost/sample)