A Multi-stage Evaluation Foundation Model for Inherited Retinal Diseases Care Needs: A Randomized Control Trial
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 300
- 试验地点
- 3
- 主要终点
- The diagnostic accuracy of IRDs
研究概览
简要总结
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
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Other
- 盲法
- Double (Participant, Outcomes Assessor)
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Presenting with clinical features suggestive of suspected IRD based on the initial assessment by the physician
排除标准
- •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.
研究组 & 干预措施
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.
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.
干预措施: FM-IRDs assisted (Other)
结局指标
主要结局
The diagnostic accuracy of IRDs
时间窗: 21 days
The top-5 gene mutation prediction accuracy, which will be assessed after all participants of the study have had WES test
次要结局
- Quality of the health management strategy(7 days)
研究者
Xiaodong Sun
Professor
Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine