Unique ID issued by UMIN | UMIN000040095 |
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Receipt number | R000045712 |
Scientific Title | Study on genotype and phenotype relation by genome analysis of responsible gene region in SMA |
Date of disclosure of the study information | 2020/04/07 |
Last modified on | 2021/04/09 15:27:39 |
Study on genotype and phenotype relation by genome analysis of responsible gene region in SMA
Study on genotype and phenotype relation by genome analysis of responsible gene region in SMA
Study on genotype and phenotype relation by genome analysis of responsible gene region in SMA
Study on genotype and phenotype relation by genome analysis of responsible gene region in SMA
Japan |
Spinal Muscular Atrophy
Neurology | Pediatrics |
Others
YES
Identify gene mutations that cause spinal muscular atrophy
Others
Genetic diagnosis can be made in cases that did not lead to genetic diagnosis by the absence of SMN1 deletion
Not applicable
Investigate theSMN1 gene deletions/mutations throughout Exon/Intron 1 to 8 in types III/IV SMA.
Investigate theSMN1 gene deletions/mutations throughout Exon/Intron 1 to 8 in types I/II 5qSMA.
Observational
Not applicable |
Not applicable |
Male and Female
DNA samples from patients having SMA under the written consent for research use covering the current study
DNA samples from patients who were confirmed without SMA
DNA samples without demographic data including age, SMA type, age at onset and maximum and current motor function
1000
1st name | Kayoko |
Middle name | |
Last name | Saito |
Tokyo Women's Medical University
Institute of Medical Genetics
162-8666
8-1 Kawada-cho, Shinjuku-ku, Tokyo
03-3353-8111
saito.kayoko@twmu.ac.jp
1st name | Kayoko |
Middle name | |
Last name | Saito |
Tokyo Women's Medical University
Institute of Medical Genetics
162-8666
8-1 Kawada-cho, Shinjuku-ku, Tokyo
03-3353-8111
saito.kayoko@twmu.ac.jp
Institute of Medical Genetics,
Tokyo Women's Medical University
Biogen Japan Ltd.
Profit organization
Japan
Ethics Committee, Tokyo Women's Medical University
8-1 Kawada-cho, Shinjuku-ku, Tokyo
03-5269-7832
rinri.bm@twmu.ac.jp
NO
東京女子医科大学 遺伝子医療センターゲノム診療科
2020 | Year | 04 | Month | 07 | Day |
Unpublished
50
No longer recruiting
2019 | Year | 06 | Month | 12 | Day |
2019 | Year | 08 | Month | 06 | Day |
2020 | Year | 03 | Month | 01 | Day |
2021 | Year | 12 | Month | 31 | Day |
None
2020 | Year | 04 | Month | 07 | Day |
2021 | Year | 04 | Month | 09 | Day |
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000045712
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