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

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

Status

Active, not recruiting

Phases

Phase 4

Study type

Unknown

Source

JPRN

Registry ID

JPRN-UMIN000030387

Enrollment

20100

Registered

2017-12-25

Start date

2017-12-25

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Spinal Muscular Atrophy(SMA)

Interventions

None listed

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: -Primary Objective: Known/confirmed SMA and non-SMA/normal genotype genomic DNA samples from a sample library in the Division of Epidemiology, Graduate School of Medicine at Kobe University. -Additional Objective: Freshly collected dried blood spot (DBS) samples obtained from newborn babies.

Exclusion criteria

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

Design outcomes

Primary

Measure	Time frame
-Sensitivity, specificity -Predictive positive and negative values of SMN1 gene deletion.	—

Secondary

Measure	Time frame
-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)	—

Countries

Japan

Contacts

Public ContactMasakazu Shinohara, M.D., PhD.

Kobe University, Japan Division of Epidemiology, Graduate School of Medicine

mashino@med.kobe-u.ac.jp+81-78-382-5541

Outcome results