UMIN-CTR Clinical Trial

Unique ID issued by UMIN UMIN000031873
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

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Basic information

Public 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)

Acronym

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)

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)

Scientific Title:Acronym

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)

Region

Japan


Condition

Condition

Birt-Hogg-Dube syndrome

Classification by specialty

Pneumology

Classification by malignancy

Others

Genomic information

YES


Objectives

Narrative objectives1

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.

Basic objectives2

Others

Basic objectives -Others

establishing diagnostic criteria for BHD syndrome and accumulation of clinical experience.

Trial characteristics_1


Trial characteristics_2


Developmental phase



Assessment

Primary outcomes

Frequency of skin lesions, pathological findings of skin lesion, type of FLCN gene mutation, characteristics of clinical phenotypes

Key secondary outcomes



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

Gene

Interventions/Control_1

Analysis of germline FLCN mutation and Dermatological evaluation of face and upper chest (biopsy of skin papule may be performed if indicated)

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

20 years-old <=

Age-upper limit

80 years-old >

Gender

Male and Female

Key inclusion criteria

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.

Key exclusion criteria

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.

Target sample size

100


Research contact person

Name of lead principal investigator

1st name
Middle name
Last name Kuniaki Seyama

Organization

Juntendo University Faculty of Medicine and Graduate School of Medicine

Division name

Respiratory Medicine

Zip code


Address

3-1-3 Hongo Bunkyo-ku Tokyo

TEL

03-5802-1063

Email

kseyama@juntendo.ac.jp


Public contact

Name of contact person

1st name
Middle name
Last name Kuniaki Seyama

Organization

Juntendo University Faculty of Medicine and Graduate School of Medicine

Division name

Respiratory Medicine

Zip code


Address

3-1-3 Hongo Bunkyo-ku Tokyo

TEL

03-5802-1063

Homepage URL


Email

kseyama@juntendo.ac.jp


Sponsor or person

Institute

Juntendo University

Institute

Department

Personal name



Funding Source

Organization

Juntendo University

Organization

Division

Category of Funding Organization

Other

Nationality of Funding Organization



Other related organizations

Co-sponsor

The Japan Society for Pneumothorax and Cystic Lung Disease

Name of secondary funder(s)



IRB Contact (For public release)

Organization


Address


Tel


Email



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

2018 Year 04 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


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

Open public recruiting

Date of protocol fixation

2017 Year 12 Month 08 Day

Date of IRB

2018 Year 01 Month 23 Day

Anticipated trial start date

2018 Year 01 Month 23 Day

Last follow-up date

2021 Year 03 Month 31 Day

Date of closure to data entry

2021 Year 03 Month 31 Day

Date trial data considered complete


Date analysis concluded



Other

Other related information



Management information

Registered date

2018 Year 03 Month 23 Day

Last modified on

2019 Year 05 Month 07 Day



Link to view the page

Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000036313


Research Plan
Registered date File name

Research case data specifications
Registered date File name

Research case data
Registered date File name