NIPH Clinical Trials Search

JAPANESE
国立保健医療科学院
JRCT ID: jRCT1052210112

Registered date:22/10/2021

Genetic testing for inherited retinal dystrophies

Basic Information

Recruitment status Complete
Health condition(s) or Problem(s) studiedInherited retinal dystrophy
Date of first enrollment04/10/2021
Target sample size100
Countries of recruitment
Study typeObservational
Intervention(s)NA

Outcome(s)

Primary OutcomeCausative gene identification rate
Secondary Outcome1) Sequence success rate 2) Candidate causative gene (variant) identification rate 3) Actionable rate 4) Percentage of patients who were able to perform genetic counseling for all subjects (including candidates) 5) Percentage of people who were able to understand the needs of genetic counseling and provide appropriate information

Key inclusion & exclusion criteria

Age minimum>= 4age old
Age maximumNot applicable
GenderBoth
Include criteria1) Patients having hereditary retinal dystrophy and patients suspected having hereditary retinal dystrophy due to difficulty in diagnosing from autoimmune retinopathy. 2) Age: 20 years-old or older. However, if the doctor deems it necessary, participation in gene therapy abroad is reported to be over 4 years old, so participation over 4 years old is also possible. 3) Peripheral blood sample (5 mL) required for the test can be submitted. 4) Informed consent has been obtained from the patient for participation in this study (if the patient is under 20 years of age, consent is also obtained from the parental authority (or guardian of the minor)). 5) Patients whose causative gene has been identified by participating in the study at each institution can participate in this study because the criteria for analysis are not fixed for each institution.
Exclude criteriaPatients who refuse to participate in the study

Related Information

Contact

Public contact
Name Akiko Maeda
Address 2-1-8 Minatojima Minamimachi Chuo-ku Kobe, Hyogo, Japan Hyogo Japan 650-0047
Telephone +81-78-381-9876
E-mail akiko_maeda@kcho.jp
Affiliation Kobe City Eye Hospital
Scientific contact
Name Yasuhiko Hirami
Address 2-1-8 Minatojima Minamimachi Chuo-ku Kobe, Hyogo, Japan Hyogo Japan 650-0047
Telephone +81-78-381-9876
E-mail yu-sugigami@kcho.jp
Affiliation Kobe City Eye Hospital