UMIN-CTR Clinical Trial

Basic information
Public title	Genetic testing for von Hippel-Lindau disease
Acronym	Genetic testing for von Hippel-Lindau disease
Scientific Title	Genetic testing for von Hippel-Lindau disease
Scientific Title:Acronym	Genetic testing for von Hippel-Lindau disease
Region	Japan

Condition
Condition	von Hippel-Lindau (VHL) disease
Classification by specialty	Not applicable
Classification by malignancy	Others
Genomic information	YES

Objectives
Narrative objectives1	genetic diagnosis for von Hippel-Lindau (VHL) disease patient
Basic objectives2	Others
Basic objectives -Others	genetic diagnoses of presymptomatic family members and patients suspected VHL disease
Trial characteristics_1
Trial characteristics_2
Developmental phase

Assessment
Primary outcomes	germline mutation detection for von Hippel-Lindau disease (VHL) gene
Key secondary outcomes	optimal patient follow-up based on the phenotype/genotype correlation study

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	Not applicable
Age-upper limit	Not applicable
Gender	Male and Female
Key inclusion criteria	1. patients clinically diagnosed as VHL disease 2. presymptomatic members of VHL families 3. patients suspected VHL disease
Key exclusion criteria	none
Target sample size	100

Research contact person
Name of lead principal investigator	1st name Middle name Last name Masahiro YAO
Organization	Yokohama City University Graduate School of Medicine
Division name	Urology and Molecular Genetics
Zip code
Address	3-9 Fukuura, Kanazawa-ku, Yokohama
TEL	045-787-2679
Email	masayao@yokohama-cu.ac.jp

Public contact
Name of contact person	1st name Middle name Last name Masahiro YAO
Organization	Yokohama City University Graduate School of Medicine
Division name	Urology and Molecular Genetics
Zip code
Address	3-9 Fukuura, Kanazawa-ku, Yokohama
TEL	045-787-2679
Homepage URL
Email	masayao@med.yokohama-cu.ac.jp

Sponsor
Institute	Yokohama City University Graduate School of Medicine
Institute
Department

Funding Source
Organization	none
Organization
Division
Category of Funding Organization	Self funding
Nationality of Funding Organization	Japan

Other related organizations
Co-sponsor	Department of Neurosurgery, Yokohama City University School of Medicine
Name of secondary funder(s)	none

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	横浜市立大学大学院医学研究科(神奈川県）

Other administrative information
Date of disclosure of the study information	2009 Year 11 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	Terminated
Date of protocol fixation	2009 Year 08 Month 12 Day
Date of IRB	2009 Year 09 Month 01 Day
Anticipated trial start date	2009 Year 09 Month 01 Day
Last follow-up date	2014 Year 09 Month 01 Day
Date of closure to data entry	2014 Year 09 Month 01 Day
Date trial data considered complete
Date analysis concluded

Other
Other related information	1. characterization of germline mutational patterns in Japanese patients 2. phenotype/genotype correlation analysis in Japanese patients 3. optimal follow-up and treatment protocols for Japanese patients

Management information
Registered date	2009 Year 10 Month 30 Day
Last modified on	2021 Year 05 Month 09 Day

Link to view the page
URL(English)	https://upload.umin.ac.jp/cgi-open-bin/icdr_e/ctr_view.cgi?recptno=R000003263