UMIN-CTR Clinical Trial

Basic information
Public title	Research on newborn screening for treatable neonatal and childhood diseases
Acronym	Research on expanded newborn screening
Scientific Title	Research on newborn screening for treatable neonatal and childhood diseases
Scientific Title:Acronym	Research on expanded newborn screening
Region	Japan

Condition
Condition	primary immunodeficiency, spinal muscular atrophy
Classification by specialty	Obsterics and gynecology Pediatrics
Classification by malignancy	Others
Genomic information	NO

Objectives
Narrative objectives1	We aim for early diagnosis and treatment by performing newborn screening for primary immunodeficiency and spinal muscular atrophy using dried blood spots.
Basic objectives2	Efficacy
Basic objectives -Others
Trial characteristics_1
Trial characteristics_2
Developmental phase

Assessment
Primary outcomes	establishment of implementation system (1 year from the start)
Key secondary outcomes	evaluation of efficacy (epidemiological survey in 10 years)

Base
Study type	Interventional

Study design
Basic design	Single arm
Randomization	Non-randomized
Randomization unit
Blinding	Open -no one is blinded
Control	Uncontrolled
Stratification
Dynamic allocation
Institution consideration
Blocking
Concealment

Intervention
No. of arms	1
Purpose of intervention	Diagnosis
Type of intervention	Other
Interventions/Control_1	screening for primary immunodeficiency and spinal muscular atrophy
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	1 months-old >=
Gender	Male and Female
Key inclusion criteria	newborns undergoing current newborn screening
Key exclusion criteria	consent not available
Target sample size	5000

Research contact person
Name of lead principal investigator	1st name Kohsuke Middle name Last name Imai
Organization	Tokyo Medical and Dental University
Division name	Pediatrics
Zip code	113-8519
Address	1-5-45, Yushima, Bunkyo, Tokyo
TEL	0338136111
Email	kimai.ped@tmd.ac.jp

Public contact
Name of contact person	1st name Tomoko Middle name Last name Mizuno
Organization	Tokyo Medical and Dental University
Division name	Pediatrics
Zip code	1138519
Address	1-5-45, Yushima, Bunkyo, Tokyo
TEL	0338136111
Homepage URL
Email	tmizuno.ped@tmd.ac.jp

Sponsor
Institute	Tokyo Medical and Dental University
Institute
Department

Funding Source
Organization	AMED
Organization
Division
Category of Funding Organization	Japanese Governmental office
Nationality of Funding Organization

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

IRB Contact (For public release)
Organization	The department of general affairs, Tokyo Medical and Dental University
Address	1-5-45, Yushima, Bunkyo, Tokyo
Tel	03-5803-5096
Email	syomu1.adm@tmd.ac.jp

Secondary IDs
Secondary IDs	NO
Study ID_1
Org. issuing International ID_1
Study ID_2
Org. issuing International ID_2
IND to MHLW

Institutions
Institutions

Other administrative information
Date of disclosure of the study information	2022 Year 01 Month 01 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	0
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	Terminated
Date of protocol fixation	2021 Year 09 Month 01 Day
Date of IRB	2021 Year 11 Month 05 Day
Anticipated trial start date	2022 Year 01 Month 01 Day
Last follow-up date	2032 Year 03 Month 31 Day
Date of closure to data entry
Date trial data considered complete
Date analysis concluded

Other
Other related information

Management information
Registered date	2021 Year 10 Month 01 Day
Last modified on	2022 Year 04 Month 01 Day

Link to view the page
URL(English)	https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000052094