UMIN-CTR Clinical Trial

Basic information
Public title	SMA Newborn Mass-Screening Pilot Study in Japan: Validation of Novel Mass-Screening System for Detection of SMN1 Gene Deletion/Mutation
Acronym	SMA Newborn Mass-Screening Pilot Study in Japan
Scientific Title	SMA Newborn Mass-Screening Pilot Study in Japan: Validation of Novel Mass-Screening System for Detection of SMN1 Gene Deletion/Mutation
Scientific Title:Acronym	SMA Newborn Mass-Screening Pilot Study in Japan
Region	Japan

Condition
Condition	Spinal Muscular Atrophy(SMA)
Classification by specialty	Pediatrics Child
Classification by malignancy	Others
Genomic information	YES

Objectives
Narrative objectives1	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.
Basic objectives2	Others
Basic objectives -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)
Trial characteristics_1	Confirmatory
Trial characteristics_2
Developmental phase	Phase IV

Assessment
Primary outcomes	-Sensitivity, specificity -Predictive positive and negative values of SMN1 gene deletion.
Key secondary outcomes	-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)

Base
Study type	Others,meta-analysis etc

Study design
Basic design
Randomization
Randomization unit
Blinding
Control
Stratification
Dynamic allocation
Institution consideration
Blocking
Concealment

Intervention
No. of arms
Purpose of intervention
Type of intervention
Interventions/Control_1
Interventions/Control_2
Interventions/Control_3
Interventions/Control_4
Interventions/Control_5
Interventions/Control_6
Interventions/Control_7
Interventions/Control_8
Interventions/Control_9
Interventions/Control_10

Eligibility
Age-lower limit	Not applicable
Age-upper limit	Not applicable
Gender	Male and Female
Key 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.
Key exclusion criteria	-Any DNA samples and DBS samples that do not have consent for study participation.
Target sample size	20100

Research contact person
Name of lead principal investigator	1st name Middle name Last name Masakazu Shinohara, M.D., PhD.
Organization	Kobe University, Japan
Division name	Division of Epidemiology, Graduate School of Medicine
Zip code
Address	Kusunoki-machi 7-5-1, Chuo-ku, Kobe, Hygo, 650-0017, Japan
TEL	+81-78-382-5541
Email	mashino@med.kobe-u.ac.jp

Public contact
Name of contact person	1st name Middle name Last name Masakazu Shinohara, M.D., PhD.
Organization	Kobe University, Japan
Division name	Division of Epidemiology, Graduate School of Medicine
Zip code
Address	Kusunoki-machi 7-5-1, Chuo-ku, Kobe, Hygo, 650-0017, Japan
TEL	+81-78-382-5541
Homepage URL
Email	mashino@med.kobe-u.ac.jp

Sponsor
Institute	Division of Epidemiology, Graduate School of Medicine, Kobe University, Japan and Biogen Japan. Co. ltd.
Institute
Department

Funding Source
Organization	Biogen Japan. Co. ltd.
Organization
Division
Category of Funding Organization	Profit organization
Nationality of Funding Organization

Other related organizations
Co-sponsor
Name of secondary funder(s)

IRB Contact (For public release)
Organization
Address
Tel
Email

Secondary IDs
Secondary IDs	NO
Study ID_1	JPN-NBS-17-11137
Org. issuing International ID_1
Study ID_2
Org. issuing International ID_2
IND to MHLW

Institutions
Institutions	神戸大学　含む　全国約60施設 About 60 site including Kobe University Hospital

Other administrative information
Date of disclosure of the study information	2017 Year 12 Month 25 Day

Related information
URL releasing protocol
Publication of results	Unpublished

Result
URL related to results and publications
Number of participants that the trial has enrolled
Results
Results date posted
Results Delayed
Results Delay Reason
Date of the first journal publication of results
Baseline Characteristics
Participant flow
Adverse events
Outcome measures
Plan to share IPD
IPD sharing Plan description

Progress
Recruitment status	Completed
Date of protocol fixation	2017 Year 11 Month 27 Day
Date of IRB	2017 Year 11 Month 27 Day
Anticipated trial start date	2017 Year 12 Month 25 Day
Last follow-up date	2020 Year 11 Month 30 Day
Date of closure to data entry
Date trial data considered complete	2020 Year 12 Month 31 Day
Date analysis concluded	2021 Year 01 Month 31 Day

Other
Other related information	-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)

Management information
Registered date	2017 Year 12 Month 13 Day
Last modified on	2020 Year 11 Month 26 Day

Link to view the page
URL(English)	https://upload.umin.ac.jp/cgi-open-bin/icdr_e/ctr_view.cgi?recptno=R000034694