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

Phase

N/A

Condition

Retina

Treatment

EyeFM-IRDs assisted

without FM-IRDs

without EyeFM-IRDs

Clinical Study ID

NCT06839170

EyeFM-IRDs

2022YFC2502800

All Genders

Study 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

Eligibility Criteria

Inclusion

Inclusion Criteria:

Presenting with clinical features suggestive of suspected IRD based on the initialassessment by the physician

Exclusion

Exclusion Criteria:

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

Study Design

EyeFM-IRDs assisted

February 27, 2025

July 01, 2025

Study 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.

Connect with a study center

Shanghai general hospital
ShangHai,
China
Site Not Available
Shanghai General Hospital, Shanghai Jiao Tong University
Shanghai, 200080
China
Site Not Available
Shanghai General Hospital, Shanghai Jiao Tong University
Shanghai 1796236, 200080
China
Site Not Available
Shanghai general hospital
Shanghai 1796236,
China
Site Not Available

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