Genetic testing for inherited retinal dystrophies

JRCT ID: jRCT1052210112

Registered date:22/10/2021

Basic Information

• Recruitment status: Complete
• Health condition(s) or Problem(s) studied: Inherited retinal dystrophy
• Date of first enrollment: 04/10/2021
• Target sample size: 100
• Study type: Observational
• Intervention(s): NA

Outcome(s)

• Primary Outcome: Causative gene identification rate

Secondary Outcome

1) 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 maximum: Not applicable
• Gender: Both

Include criteria

1) 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 criteria: Patients who refuse to participate in the study

Related Information

• Primary Sponsor: Hirami Yasuhiko