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

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 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


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

Value
https://center6.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