Search for intracranial vascular abnormalities in Coates' disease and disease-causing genes by whole exome sequencing analysis

Search for intracranial vascular abnormalities in Coates' disease and disease-causing genes by whole exome sequencing analysis - Search for intracranial vascular abnormalities in Coates' disease and disease-causing genes by whole exome sequencing analysis

Status

Active, not recruiting

Phases

Unknown

Study type

Interventional

Source

JPRN

Registry ID

JPRN-UMIN000045672

Enrollment

Registered

2021-10-12

Start date

2021-10-18

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Coat&#39

Interventions

Head MRI scan / collecting blood(5ml)

Eligibility

Sex/Gender

All

Inclusion criteria

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.

Exclusion criteria

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.

Design outcomes

Primary

Measure	Time frame
Prevalence of cerebrovascular abnormalities on MRI	—

Secondary

Measure	Time frame
Detection rate of RNF213 gene mutation Identification of disease-causing gene mutations	—

Countries

Japan

Contacts

Public ContactHideo Akiyama

Gunma university Ophthalmology

akiyamah47@gunma-u.ac.jp0272208338

Outcome results

None listed

Source: JPRN (via WHO ICTRP) · Data processed: Jul 3, 2026

Search for intracranial vascular abnormalities in Coates&#39; disease and disease-causing genes by whole exome sequencing analysis