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Name:
UMIN ID:

Recruitment status Open public recruiting
Unique ID issued by UMIN UMIN000018565
Receipt No. R000021468
Scientific Title Genetic testing for Japanese retinitis pigmentosa and related diseases
Date of disclosure of the study information 2015/08/06
Last modified on 2015/09/07

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Basic information
Public title Genetic testing for Japanese retinitis pigmentosa and related diseases
Acronym Genetic testing for Japanese retinitis pigmentosa and related diseases
Scientific Title Genetic testing for Japanese retinitis pigmentosa and related diseases
Scientific Title:Acronym Genetic testing for Japanese retinitis pigmentosa and related diseases
Region
Japan

Condition
Condition Inherited chorioretinal dystrophies: retinitis pigmentosa, Leber congenital amaurosis, Stargardt Disease, Bardet-Biedl syndrome, Usher syndrome, Joubert syndrome, Refsum disease, Bietti crystalline corneoretinal dystrophy, X-linked juvenile retinoschisis, occult macular dystrophy, congenital stationary night blindness, choroideremia, Oguchi disease, fundus albipunctatus, and other chorioretinal dystrophies
Classification by specialty
Ophthalmology
Classification by malignancy Others
Genomic information YES

Objectives
Narrative objectives1 Registry of clinical and molecular findings for Japanese inherited chorioretinal dystrophies
Basic objectives2 Others
Basic objectives -Others Infrastructure for clinical trials of inherited chorioretinal dystrophies
Trial characteristics_1 Exploratory
Trial characteristics_2
Developmental phase Not applicable

Assessment
Primary outcomes molecular diagnosis (positive or negative findings)
Key secondary outcomes

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
0 years-old <=
Age-upper limit
120 years-old >=
Gender Male and Female
Key inclusion criteria Japanese patient and family member of clinically diagnosed inherited chorioretinal dystrophies
Key exclusion criteria Non Japanese genetic background supposed
Target sample size 1000

Research contact person
Name of lead principal investigator
1st name
Middle name
Last name Fumihiko Matsuda
Organization Kyoto University Graduate School of Medicine
Division name Center for Genomic Medicine
Zip code
Address 53 Shogoin Kawaharacho, Sakyo, Kyoto, 6068507, Japan
TEL 81-75-751-4157
Email fumi@genome.med.kyoto-u.ac.jp

Public contact
Name of contact person
1st name
Middle name
Last name Norimoto Gotoh
Organization Kyoto University Graduate School of Medicine
Division name Department of Ophthalmology and Visual Sciences
Zip code
Address 54 Shogoin Kawaharacho, Sakyo, Kyoto, 6068507, Japan
TEL 075-751-3111
Homepage URL
Email eyegotoh@kuhp.kyoto-u.ac.jp

Sponsor
Institute Center for Genomic Medicine, Kyoto University Graduate School of Medicine
Institute
Department

Funding Source
Organization Japan Agency for Medical Research and Developmen (AMED)
Organization
Division
Category of Funding Organization Other
Nationality of Funding Organization Japan

Other related organizations
Co-sponsor Department of Ophthalmology and Visual Sciences, Kyoto University;
Department of Ophthalmology, Okayama University;
Department of Ophthalmology, Tokyo University;
Institute of Biomedical Research and Innovation Hospital;
Department of Ophthalmology, Kagawa University;
The McGill University and Genome Quebec Innovation Centre
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 京都大学医学部附属病院、岡山大学医学部附属病院、東京大学医学部附属病院、先端医療センター病院、香川大学医学部附属病院

Other administrative information
Date of disclosure of the study information
2015 Year 08 Month 06 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
2015 Year 07 Month 27 Day
Date of IRB
Anticipated trial start date
2015 Year 09 Month 01 Day
Last follow-up date
Date of closure to data entry
Date trial data considered complete
Date analysis concluded

Other
Other related information People willing to participate this study, please contact with one of the following eye centers: Kyoto Univ Hosp, Okayama Univ Hosp, Tokyo Univ Hosp, Kagawa Univ Hosp, IBRI Hospital (Kobe). This research is conducted for Japanese genetic background patients/families.

Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.


Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N.

Invest Ophthalmol Vis Sci. 2014 Oct 16;55(11):7369-75.

Management information
Registered date
2015 Year 08 Month 06 Day
Last modified on
2015 Year 09 Month 07 Day


Link to view the page
URL(English) https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000021468

Research Plan
Registered date File name

Research case data specifications
Registered date File name

Research case data
Registered date File name


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