Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies

• Conditions: Inherited Retinal Dystrophies

• Registration Number: NCT03691168
• Lead Sponsor: Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine

Brief Summary

Based on a clinical multi-center study of the natural course of inherited retinal dystrophies in Chinese population, screening fundus imaging indicators for patients with Chinese inherited retinal dystrophies, describing the clinical features of Chinese patients with inherited retinal dystrophies, and establishing a diagnosis of hereditary retinal diseases - Follow-up norms; establish a network-based multi-center diagnosis and follow-up platform; obtain a biological sample library of hereditary retinal diseases mainly in China. The research will further improve and enrich the genotype, phenotypic characteristics and natural course of Chinese inherited retinal dystrophies, in order to promote the clinical evaluation of clinical inherited retinal dystrophies and the standardization of genetic diagnosis. It is also the evidence for the best timing for future gene therapy, to obtain the best therapeutic effect, and to provide a theoretical basis for achieving precise treatment.

Detailed Description

Not available

Study Timeline

• Study Start: 2018-06-01
• Status Verified: 2018-09
• Study First Submitted: 2018-09-28
• Study First Submitted QC: 2018-09-28
• Last Update Submitted: 2018-09-28
• Study First Posted: 2018-10-01
• Last Update Posted: 2018-10-01
• Primary Completion: 2019-05-30
• Study Completion: 2023-05-30

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 500

Inclusion Criteria

1. Patients with IRDs whose mutations have been identified
2. 4~70 years old
3. Complete 4 basic examinations of the eye: Corrective vision; fundus photography; OCT; ERG

Exclusion Criteria

1. Has participated in other interventional treatment studies;
2. Patients with severe systemic diseases, mental dysplasia, mental illness;
3. Unable to accept eye examination patients;
4. Traumatic retinopathy, retinal inflammatory disease, paraneoplastic retinopathy, drug toxicity, and rare diseases such as diffuse unilateral subacute optic retinitis
5. At the initial visit, the patient's binocular vision is displayed as no light.
6. Both eyes have a history of internal eye surgery

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Visual acuity	60 months	A typical Snellen chart that if frequently used for visual acuity testing

Trial Locations

Locations (1)

Shanghai General Hospital; 🇨🇳 Shanghai, Shanghai, China