An Assistant Model for IRD Care Needs: A Randomized Control Trial

NCT ID: NCT06839170

Last Updated: 2026-01-06

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 300 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2025-02-27
• Study Completion Date: 2025-07-01

Brief Summary

we present FM-IRD（also designated as Retina4IRD）, the first foundation model-based AI system specifically designed for genotype diagnosis of IRD by emulating clinician decision-making reasoning process. Retina4IRD is capable of processing multimodal input including color fundus photography (CFP), optical coherence tomography (OCT), and descriptive medical metadata. Trained and validated on genetically confirmed cases from centers across China, South Korea, and Poland, the system generates a ranked list of candidate pathogenic genetic variants. Retina4IRD also can generated attention heatmaps to enhance decision-making interpretability. To validate its clinical impact, we conducted a prospective multicenter RCT involving 295 participants, rigorously assessing Retina4IRD's diagnostic accuracy and real-world utility. This will improve the standardized diagnosis of IRD diseases, effectively transforming the traditional time-consuming and resource-intensive diagnostic pathway into an efficient intelligent workflow

Detailed Description

A randomized, controlled validation trial was conducted to evaluate the effectiveness of Retina4IRD (also designated as FM-IRD) in clinical settings. This trail was conducted at seven centers in China with large outpatient IRDs care .

Participants were recruited from the outpatient of IRD clinics of the participating centers, or through referrals from collaborating retinal specialists. Given that genetic testing results were unavailable at enrollment, and to prioritize the model's ability to identify patients with actionable therapeutic targets, genotypes of our randomized controlled trial were categorized into 17 classes, including mutations with available gene therapies or ongoing clinical trials. All participants provided written informed consent before enrolment assessments. All participants subsequently underwent WES testing to confirm the causative genetic mutations, which served as the gold standard for IRD gene mutation diagnosis.

Conditions

Inherited Retinal Diseases

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: OTHER
• Blinding Strategy: DOUBLE

Study Groups

Retina4IRD(also designated as FM-IRDs) assisted arm

Arm A: In the diagnostic process of IRD, retinal specialists make diagnostic decision with the assistance of FM-IRDs.

Group Type: EXPERIMENTAL

FM-IRDs assisted

Intervention Type: OTHER

A Foundation Model for Assisting the precision Diagnosis of Inherited Retinal Diseases: FM-IRDs

specialist-only without AI assisted arm

Arm B: In the diagnostic process of IRD, retinal specialists make independent decision-making without the assistance of FM-IRDs.

Group Type: ACTIVE_COMPARATOR

No interventions assigned to this group

Interventions

FM-IRDs assisted

A Foundation Model for Assisting the precision Diagnosis of Inherited Retinal Diseases: FM-IRDs

Intervention Type: OTHER

without FM-IRDs

without FM-IRDs

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Presenting with clinical features suggestive of suspected IRD based on the initial assessment by the physician

Exclusion Criteria

• Refusal to undergo WES genetic testing.
• Screening for a history of intraocular surgery in both eyes within the past 6 months;
• Subjects with severe systemic diseases, intellectual developmental disorders, psychiatric illnesses, etc.
• Patient data that the investigator deems necessary to exclude.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine

OTHER

Sponsor Role: lead

Responsible Party

Xiaodong Sun

Professor

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Xiaodong Sun, PhD

Role: PRINCIPAL_INVESTIGATOR

Shanhai General Hopsital

Locations

Shanghai General Hospital, Shanghai Jiao Tong University

Shanghai, , China

Shanghai general hospital

Shanghai, , China

Countries

China

Other Identifiers

2022YFC2502800

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

EyeFM-IRDs

Identifier Type: -

Identifier Source: org_study_id