UMIN-CTR Clinical Trial
| Unique ID issued by UMIN | UMIN000018565 |
|---|---|
| Receipt number | 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 16:07:04 |
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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
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
eyegotoh@kuhp.kyoto-u.ac.jp
Sponsor or person
Institute
Center for Genomic Medicine, Kyoto University Graduate School of Medicine
Institute
Department
Personal name
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
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
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000021468
