UMIN-CTR Clinical Trial

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
Email	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
Email	akiyamah47@gunma-u.ac.jp

Sponsor
Institute	Gunma university
Institute
Department

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
Email	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
URL(English)	https://center6.umin.ac.jp/cgi-open-bin/icdr_e/ctr_view.cgi?recptno=R000052132