Unique ID issued by UMIN | UMIN000030387 |
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Receipt number | R000034694 |
Scientific Title | SMA Newborn Mass-Screening Pilot Study in Japan: Validation of Novel Mass-Screening System for Detection of SMN1 Gene Deletion/Mutation |
Date of disclosure of the study information | 2017/12/25 |
Last modified on | 2020/11/26 11:00:59 |
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
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
Japan |
Spinal Muscular Atrophy(SMA)
Pediatrics | Child |
Others
YES
1. Primary Objective:
Validate accuracy of newly developed SMN1 gene deletion detection system including real-time mCOP-PCR and pre-amplification of target genomic DNA using known/confirmed SMA and non-SMA/normal genotype samples.
2. Additional Objective:
Investigate accuracy and cost-effectiveness of the new SMN1 gene deletion detection system for newborn SMA screening using DBS samples.
Others
1. -Sensitivity, specificity
-Predictive positive and negative values of SMN1 gene deletion.
2. -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)
Confirmatory
Phase IV
-Sensitivity, specificity
-Predictive positive and negative values of SMN1 gene deletion.
-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)
Others,meta-analysis etc
Not applicable |
Not applicable |
Male and Female
-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.
-Any DNA samples and DBS samples that do not have consent for study participation.
20100
1st name | |
Middle name | |
Last name | Masakazu Shinohara, M.D., PhD. |
Kobe University, Japan
Division of Epidemiology, Graduate School of Medicine
Kusunoki-machi 7-5-1, Chuo-ku, Kobe, Hygo, 650-0017, Japan
+81-78-382-5541
mashino@med.kobe-u.ac.jp
1st name | |
Middle name | |
Last name | Masakazu Shinohara, M.D., PhD. |
Kobe University, Japan
Division of Epidemiology, Graduate School of Medicine
Kusunoki-machi 7-5-1, Chuo-ku, Kobe, Hygo, 650-0017, Japan
+81-78-382-5541
mashino@med.kobe-u.ac.jp
Division of Epidemiology, Graduate School of Medicine, Kobe University, Japan and Biogen Japan. Co. ltd.
Biogen Japan. Co. ltd.
Profit organization
NO
JPN-NBS-17-11137
神戸大学 含む 全国約60施設
About 60 site including Kobe University Hospital
2017 | Year | 12 | Month | 25 | Day |
Unpublished
Completed
2017 | Year | 11 | Month | 27 | Day |
2017 | Year | 11 | Month | 27 | Day |
2017 | Year | 12 | Month | 25 | Day |
2020 | Year | 11 | Month | 30 | Day |
2020 | Year | 12 | Month | 31 | Day |
2021 | Year | 01 | Month | 31 | Day |
-Sensitivity, specificity
-Predictive positive and negative values of SMN1 gene deletion.
-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)
2017 | Year | 12 | Month | 13 | Day |
2020 | Year | 11 | Month | 26 | Day |
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000034694
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