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

NCT06839170 | Completed DMC

• 2 other identifiers: EyeFM-IRDs2022YFC2502800
• Study Type: interventional
• Target: 300
• Locations: 1 country
• Sites: 2

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

Conditions

Inherited Retinal Diseases

Outcome Measures

Primary Outcomes (1)

• The diagnostic accuracy of IRDs

  The top-5 gene mutation prediction accuracy, which will be assessed after all participants of the study have had WES test

  21 days

Secondary Outcomes (1)

• Quality of the health management strategy

  7 days

Study Arms (2)

Retina4IRD(also designated as FM-IRDs) assisted arm

EXPERIMENTAL

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

Other: FM-IRDs assisted

specialist-only without AI assisted arm

ACTIVE COMPARATOR

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

Interventions

FM-IRDs assisted OTHER

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

Retina4IRD(also designated as FM-IRDs) assisted arm

without FM-IRDs OTHER

without FM-IRDs

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine: lead

Study Sites (2)

Shanghai General Hospital, Shanghai Jiao Tong University

Shanghai, 200080, China

Location

Shanghai general hospital

Shanghai, China

Location

Study Officials

• Xiaodong Sun, PhD

  Shanhai General Hopsital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: DOUBLE
• Who Masked: PARTICIPANT, OUTCOMES ASSESSOR
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: February 11, 2025
• First Posted: February 21, 2025
• Study Start: February 27, 2025
• Primary Completion: June 7, 2025
• Study Completion: July 1, 2025
• Last Updated: March 16, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

CN (2)