Unique ID issued by UMIN | UMIN000031873 |
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Receipt number | R000036313 |
Scientific Title | The establishment of diagnostic criteria for Birt-Hogg-Dube (BHD) syndrome and equalization of ability of diagnosing and managing BHD in Japan (multicenter collaborative study) |
Date of disclosure of the study information | 2018/04/01 |
Last modified on | 2019/05/07 13:26:35 |
The establishment of diagnostic criteria for Birt-Hogg-Dube (BHD) syndrome and equalization of ability of diagnosing and managing BHD in Japan (multicenter collaborative study)
The establishment of diagnostic criteria for Birt-Hogg-Dube (BHD) syndrome and equalization of ability of diagnosing and managing BHD in Japan (multicenter collaborative study)
The establishment of diagnostic criteria for Birt-Hogg-Dube (BHD) syndrome and equalization of ability of diagnosing and managing BHD in Japan (multicenter collaborative study)
The establishment of diagnostic criteria for Birt-Hogg-Dube (BHD) syndrome and equalization of ability of diagnosing and managing BHD in Japan (multicenter collaborative study)
Japan |
Birt-Hogg-Dube syndrome
Pneumology |
Others
YES
We perform skin biopsy and FLCN gene test for cases suspected of BHD syndrome.
Our research is aimed at establishing diagnostic criteria for BHD syndrome and accumulation of clinical experience.
Others
establishing diagnostic criteria for BHD syndrome and accumulation of clinical experience.
Frequency of skin lesions, pathological findings of skin lesion, type of FLCN gene mutation, characteristics of clinical phenotypes
Interventional
Single arm
Non-randomized
Open -no one is blinded
Uncontrolled
1
Diagnosis
Gene |
Analysis of germline FLCN mutation and Dermatological evaluation of face and upper chest (biopsy of skin papule may be performed if indicated)
20 | years-old | <= |
80 | years-old | > |
Male and Female
Patients with spontaneous pneumothroax whose computed tomography of the chest showed multiple pulmonary cysts that have features typical for that of BHD syndrome are the candicate for this study. Patients can participatein the study if they give the written informed consent to FLCN genetic testing and dermatoloigc evaluation after the explanation of the study.
Patients with spontaneous pneumothroax whose computed tomography of the chest showed multiple pulmonary cysts, but those not having typical features of BHD syndrome, will be excluded.
100
1st name | |
Middle name | |
Last name | Kuniaki Seyama |
Juntendo University Faculty of Medicine and Graduate School of Medicine
Respiratory Medicine
3-1-3 Hongo Bunkyo-ku Tokyo
03-5802-1063
kseyama@juntendo.ac.jp
1st name | |
Middle name | |
Last name | Kuniaki Seyama |
Juntendo University Faculty of Medicine and Graduate School of Medicine
Respiratory Medicine
3-1-3 Hongo Bunkyo-ku Tokyo
03-5802-1063
kseyama@juntendo.ac.jp
Juntendo University
Juntendo University
Other
The Japan Society for Pneumothorax and Cystic Lung Disease
NO
2018 | Year | 04 | Month | 01 | Day |
Unpublished
Open public recruiting
2017 | Year | 12 | Month | 08 | Day |
2018 | Year | 01 | Month | 23 | Day |
2018 | Year | 01 | Month | 23 | Day |
2021 | Year | 03 | Month | 31 | Day |
2021 | Year | 03 | Month | 31 | Day |
2018 | Year | 03 | Month | 23 | Day |
2019 | Year | 05 | Month | 07 | Day |
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000036313
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