UMIN-CTR Clinical Trial

Basic information
Public title	Pompe disease high risk screening in Japan
Acronym	PHiRS-J
Scientific Title	Pompe disease high risk screening in Japan
Scientific Title:Acronym	PHiRS-J
Region	Japan

Condition
Condition	Pompe Disease
Classification by specialty	Neurology Pediatrics
Classification by malignancy	Others
Genomic information	YES

Objectives
Narrative objectives1	To unveil prevalence of late-onset Pompe disease (LOPD) in patients with muscular disorders of unclassified muscle weakness and/or high level of creatine kinase.
Basic objectives2	Others
Basic objectives -Others	Epidemiological surveillance of disease prevalence.
Trial characteristics_1	Exploratory
Trial characteristics_2	Others
Developmental phase	Not applicable

Assessment
Primary outcomes	Number of patients who showed decreased GAA activity at secondary test with lymphocyte as well as homozygous mutation of GAA gene ("definitive diagnosis group").
Key secondary outcomes	- Number of patients who did not show decreased GAA activity at secondary test with lymphocyte and/or homozygous mutation of GAA gene ("suspected diagnosis group"). - Difference of clinical information from "definitive diagnosis group", "suspected diagnosis group", and "exclusion group" that did not show decreased GAA activity at primary test.

Base
Study type	Observational

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	1 years-old <=
Age-upper limit	Not applicable
Gender	Male and Female
Key inclusion criteria	Candidate patient who is eligible for inclusion is under receiving medical check in your hospital (no matter of outpatient and inpatient) and to fulfill following criteria: a)-c) a) Older than 1 year old. b) Fulfill following either or both conditions; b-1) Muscle weakness which is considered clinically due to muscle disorders b-2) High level of CK which is considered clinically due to muscle disorders c) There is no clinical feature and medical results that indicate other disorders which shows b-1) and b-2) so far. Study object must have fulfilled all of inclusion criteria a)-c) and able to obtain informed consent from patient or legally authorized representative for medical test and collecting clinical information in this study.
Key exclusion criteria	No exclusion criteria in this study.
Target sample size	150

Research contact person
Name of lead principal investigator	1st name Katsuhisa Middle name Last name Ogata
Organization	National Hospital Organization Higashisaitama National Hospital
Division name	Institute of Clinical Research
Zip code	349-0196
Address	4147 Kurohama, Hasuda, Saitama, Japan
TEL	048-768-1161
Email	ogata-neu@umin.ac.jp

Public contact
Name of contact person	1st name Mikiko Middle name Last name Shigemori
Organization	Muscular Dystrophy Clinical Trial Network
Division name	Secretariat Ofifce
Zip code	187-8551
Address	c/o National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo, Japan
TEL	042-341-2711(3052)
Homepage URL	http://www.mdctn.jp/
Email	shigemori@ncnp.go.jp

Sponsor
Institute	Muscular Dystrophy Clinical Trial Network
Institute
Department

Funding Source
Organization	Sanofi K. K.
Organization
Division
Category of Funding Organization	Profit organization
Nationality of Funding Organization	Japan

Other related organizations
Co-sponsor	- National Hospital Organization Higashisaitama Hospital - National Center of Neurology and Psychiatry - National Center for Child Health and Development
Name of secondary funder(s)

IRB Contact (For public release)
Organization	Ethics Committee, National Hospital Organization Higashisaitama National Hospital
Address	4147 Kurohama, Hasuda, Saitama, Japan
Tel	048-768-1161
Email	210-cltrials@mail.hosp.go.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	・国立病院機構旭川医療センター（北海道） ・国立病院機構青森病院（青森県） ・国立病院機構仙台西多賀病院（宮城県） ・国立病院機構あきた病院（秋田県） ・国立病院機構東埼玉病院（埼玉県） ・東京女子医科大学病院（東京都） ・国立精神・神経医療研究センター病院（東京都） ・名古屋市立大学病院（愛知県） ・国立病院機構鈴鹿病院（三重県） ・大阪大学医学部附属病院（大阪府） ・国立病院機構刀根山病院（大阪府） ・国立病院機構大牟田病院（福岡県） ・熊本大学医学部附属病院（熊本県） ・奈良県立医科大学附属病院（奈良県） ・国立病院機構下志津病院（千葉県） ・国立病院機構長良医療センター（岐阜県）

Other administrative information
Date of disclosure of the study information	2015 Year 05 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	No longer recruiting
Date of protocol fixation	2014 Year 07 Month 16 Day
Date of IRB	2014 Year 07 Month 16 Day
Anticipated trial start date	2015 Year 06 Month 01 Day
Last follow-up date	2018 Year 08 Month 31 Day
Date of closure to data entry	2018 Year 08 Month 31 Day
Date trial data considered complete	2018 Year 08 Month 31 Day
Date analysis concluded	2020 Year 08 Month 31 Day

Other
Other related information	Prospective observation has finished.

Management information
Registered date	2015 Year 05 Month 24 Day
Last modified on	2020 Year 05 Month 26 Day

Link to view the page
URL(English)	https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000020406

Research Plan
Registered date	File name

Research case data specifications
Registered date	File name

Research case data
Registered date	File name

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