UMIN-CTR Clinical Trial
| Unique ID issued by UMIN | UMIN000045672 |
|---|---|
| Receipt number | R000052132 |
| Scientific Title | Search for intracranial vascular abnormalities in Coates' disease and disease-causing genes by whole exome sequencing analysis |
| Date of disclosure of the study information | 2021/10/12 |
| Last modified on | 2022/04/07 14:35:52 |
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Basic information
Public title
Search for intracranial vascular abnormalities in Coates' disease and disease-causing genes by whole exome sequencing analysis
Acronym
Search for intracranial vascular abnormalities in Coates' disease and disease-causing genes by whole exome sequencing analysis
Scientific Title
Search for intracranial vascular abnormalities in Coates' disease and disease-causing genes by whole exome sequencing analysis
Scientific Title:Acronym
Search for intracranial vascular abnormalities in Coates' disease and disease-causing genes by whole exome sequencing analysis
Region
| Japan |
Condition
Condition
Coat's disease
Classification by specialty
| Ophthalmology |
Classification by malignancy
Others
Genomic information
YES
Objectives
Narrative objectives1
Coats disease is a congenital nonhereditary retinal vascular disorder characterized by retinal telangiectasia and exudative retinopathy. But etiology is unknown. Although Coats disease is caused by vascular malformations such as capillary aneurysms and telangiectasias in the peripheral retinal vessels, intracranial vascular abnormalities may exist in the same central nervous system. There have been no studies that have closely examined intracranial blood vessels in Coats disease patients. In this study, we will examine intracranial vascular lesions in patients with Coats disease. Recently, the RNF213 gene has been identified as a susceptibility gene for moyamoya disease. The gene is associated with systemic vascular diseases such as atherosclerotic intracranial artery stenosis, pulmonary artery stenosis, and coronary artery stenosis. The RNF213 gene may be involved in the formation of Coats disease as the same vascular disease. In this study, we performed whole exosome sequencing analysis of peripheral blood DNA from patients with Coats disease to determine new causative genes of Coats disease, including the RNF213 gene.
Basic objectives2
Others
Basic objectives -Others
The prevalence of cerebrovascular abnormalities in patients with Coates' disease will be investigated by magnetic resonance imaging (MRI) of the head.
We will conduct whole exosome sequencing analysis of peripheral blood-derived DNA in patients with Coates' disease to identify RNF213 mutations and search for disease-causing gene mutations in Coates' disease.
Trial characteristics_1
Trial characteristics_2
Developmental phase
Assessment
Primary outcomes
Prevalence of cerebrovascular abnormalities on MRI
Key secondary outcomes
Detection rate of RNF213 gene mutation
Identification of disease-causing gene mutations
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
Prevention
Type of intervention
| Other |
Interventions/Control_1
Head MRI scan / collecting blood(5ml)
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
| 11 | years-old | <= |
Age-upper limit
| 90 | years-old | >= |
Gender
Male and Female
Key inclusion criteria
Patients diagnosed with Coats disease (Shields staging system is used for diagnosis. All stages of the disease are included.) Patients aged 11 years and older (regardless of gender). Outpatients.Patients who have given written consent to participate in this study.
Key exclusion criteria
(1) Patients with contraindications to MRI examinations at Josai Clinic
(2) Patients with non-MRI compatible devices such as cardiac pacemakers, stimulation electrodes, cochlear implants, or artificial middle ears.
(3) Patients who have undergone surgery such as vascular stenting or old valve replacement surgery that is not MRI compatible.
(4) Patients with metal implants such as cerebral artery clips or artificial joints in the body that do not support MRI
(5) Pregnant women
(6) Patients with tattoos
(7) Patients with a history of epilepsy (Loud noises may induce epileptic seizures in rare cases)
(8) Those who are claustrophobic or otherwise uncomfortable in confined spaces, or who are sensitive to loud noises
(9) Patients who are judged by their physicians to be unsuitable for the program.
Target sample size
24
Research contact person
Name of lead principal investigator
| 1st name | Hideo |
| Middle name | |
| Last name | Akiyama |
Organization
Gunma university
Division name
Ophthalmology
Zip code
371-8511
Address
3-39-15, Showa-machi, Maebashi-shi, Gunma
TEL
0272208338
akiyamah47@gunma-u.ac.jp
Public contact
Name of contact person
| 1st name | Hideo |
| Middle name | |
| Last name | Akiyama |
Organization
Gunma university
Division name
Ophthalmology
Zip code
371-8511
Address
3-39-15, Showa-machi, Maebashi-shi, Gunma
TEL
0272208338
Homepage URL
akiyamah47@gunma-u.ac.jp
Sponsor or person
Institute
Gunma university
Institute
Department
Personal name
Funding Source
Organization
Self adaptation
Organization
Division
Category of Funding Organization
Self funding
Nationality of Funding Organization
Other related organizations
Co-sponsor
Name of secondary funder(s)
IRB Contact (For public release)
Organization
Gunma University Hospital Clinical Research Review Board
Address
Showa-machi, Maebashi-shi, Gunma
Tel
027-220-8740
gunmaciru-office@umin.ac.jp
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
| 2021 | Year | 10 | Month | 12 | 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
24
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
No longer recruiting
Date of protocol fixation
| 2021 | Year | 09 | Month | 30 | Day |
Date of IRB
| 2021 | Year | 09 | Month | 30 | Day |
Anticipated trial start date
| 2021 | Year | 10 | Month | 18 | Day |
Last follow-up date
| 2023 | Year | 04 | Month | 01 | Day |
Date of closure to data entry
Date trial data considered complete
Date analysis concluded
Other
Other related information
Management information
Registered date
| 2021 | Year | 10 | Month | 05 | Day |
Last modified on
| 2022 | Year | 04 | Month | 07 | Day |
Link to view the page
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000052132
