Unique ID issued by UMIN | UMIN000017661 |
---|---|
Receipt number | R000020406 |
Scientific Title | Pompe disease high risk screening in Japan |
Date of disclosure of the study information | 2015/05/25 |
Last modified on | 2020/05/26 10:43:01 |
Pompe disease high risk screening in Japan
PHiRS-J
Pompe disease high risk screening in Japan
PHiRS-J
Japan |
Pompe Disease
Neurology | Pediatrics |
Others
YES
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.
Others
Epidemiological surveillance of disease prevalence.
Exploratory
Others
Not applicable
Number of patients who showed decreased GAA activity at secondary test with lymphocyte as well as homozygous mutation of GAA gene ("definitive diagnosis group").
- 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.
Observational
1 | years-old | <= |
Not applicable |
Male and Female
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.
No exclusion criteria in this study.
150
1st name | Katsuhisa |
Middle name | |
Last name | Ogata |
National Hospital Organization Higashisaitama National Hospital
Institute of Clinical Research
349-0196
4147 Kurohama, Hasuda, Saitama, Japan
048-768-1161
ogata-neu@umin.ac.jp
1st name | Mikiko |
Middle name | |
Last name | Shigemori |
Muscular Dystrophy Clinical Trial Network
Secretariat Ofifce
187-8551
c/o National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo, Japan
042-341-2711(3052)
http://www.mdctn.jp/
shigemori@ncnp.go.jp
Muscular Dystrophy Clinical Trial Network
Sanofi K. K.
Profit organization
Japan
- National Hospital Organization Higashisaitama Hospital
- National Center of Neurology and Psychiatry
- National Center for Child Health and Development
Ethics Committee, National Hospital Organization Higashisaitama National Hospital
4147 Kurohama, Hasuda, Saitama, Japan
048-768-1161
210-cltrials@mail.hosp.go.jp
NO
・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)
2015 | Year | 05 | Month | 25 | Day |
Unpublished
No longer recruiting
2014 | Year | 07 | Month | 16 | Day |
2014 | Year | 07 | Month | 16 | Day |
2015 | Year | 06 | Month | 01 | Day |
2018 | Year | 08 | Month | 31 | Day |
2018 | Year | 08 | Month | 31 | Day |
2018 | Year | 08 | Month | 31 | Day |
2020 | Year | 08 | Month | 31 | Day |
Prospective observation has finished.
2015 | Year | 05 | Month | 24 | Day |
2020 | Year | 05 | Month | 26 | Day |
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000020406