UMIN-CTR Clinical Trial

Unique ID issued by UMIN UMIN000030387
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

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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 or person

Institute

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

Institute

Department

Personal name



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

Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000034694


Research Plan
Registered date File name

Research case data specifications
Registered date File name

Research case data
Registered date File name