Using a deep learning model to improve care for inherited retinal diseases

A Multi-stage Evaluation Foundation Model for Inherited Retinal Diseases Care Needs: A Randomized Control Trial

NA · Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine · NCT06839170

This study is testing a new deep learning tool to see if it can help doctors better care for patients with inherited retinal diseases by improving screenings and making more accurate diagnoses.

Quick facts

PhaseNA
Study typeInterventional
Enrollment240 (estimated)
SexAll
SponsorShanghai General Hospital, Shanghai Jiao Tong University School of Medicine (other)
Locations2 sites (Shanghai and 1 other locations)
Trial IDNCT06839170 on ClinicalTrials.gov

What this trial studies

This clinical trial evaluates the effectiveness of a comprehensive deep learning model, EyeFM-IRDs, in assisting with the care of patients with inherited retinal diseases (IRDs). The study aims to enhance the initial screening process, improve referrals to specialized clinics, and increase diagnostic accuracy when compared to traditional methods. By predicting specific gene mutations based on clinical assessments, the model seeks to streamline patient management and reduce unnecessary genetic testing. The trial is multicenter and randomized, ensuring a robust evaluation of the model's impact on patient outcomes.

Who should consider this trial

Good fit: Ideal candidates are individuals presenting with clinical features suggestive of inherited retinal diseases.

Not a fit: Patients who have severe systemic diseases, intellectual developmental disorders, or psychiatric illnesses may not benefit from this study.

Why it matters

Potential benefit: If successful, this approach could lead to more accurate diagnoses and better-targeted treatments for patients with inherited retinal diseases.

How similar studies have performed: Other studies utilizing deep learning models for medical diagnostics have shown promising results, indicating potential success for this approach.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Presenting with clinical features suggestive of 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.

Where this trial is running

Shanghai and 1 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.

View on ClinicalTrials.gov →

Conditions: Inherited Retinal Diseases

Last reviewed 2026-05-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.