Inherited Retinal DiseasesIRDNCT06839170
An Assistant Model for IRD Care Needs: A Randomized Control Trial
A study testing FM-IRDs assisted and without FM-IRDs in people with Inherited Retinal Diseases, run by Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine at 2 sites in China.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Inherited Retinal Diseases
- What is being tested?
- FM-IRDs assisted and without FM-IRDs
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 300 participants
- Where
- 2 sitesChina
- Study dates
- 27 Feb 2025to 1 Jul 2025
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Presenting with clinical features suggestive of suspected IRD based on the initial assessment by the physician
Who cannot join
- 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.
Trial locations and contacts
2 sites in 1 country.
China2 sites
Shanghai General Hospital, Shanghai Jiao Tong University
Shanghai, 200080
Shanghai general hospital
Shanghai
About this study
Official title: A Multi-stage Evaluation Foundation Model for Inherited Retinal Diseases Care Needs: A Randomized Control Trial
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
Read the 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
- Being tested
- FM-IRDs assisted, without FM-IRDs
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
FM-IRDs assistedOther
A Foundation Model for Assisting the precision Diagnosis of Inherited Retinal Diseases: FM-IRDs
without FM-IRDsOther
without FM-IRDs
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 21 days
Secondary outcomes (1)
Quality of the health management strategy
The secondary endpoint is defined as the quality of the health management strategy formulated for the top-one predicted genotype, which encompassed four dimensions: available interventions, recommended follow-up intervals, fertility counseling recommendations, and the necessity of multidisciplinary consultation. The quality of the strategy is evaluated using a comprehensive scoring system, which was developed by a panel of multiple experts. This system has a score range of 0 to 40, with higher scores indicating better outcomes. The final assessment is conducted independently by two senior IRD experts.
Measured: 7 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Feb 2025
- Study start27 Feb 2025
- Primary completion7 Jun 2025
- Study completion1 Jul 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Inherited Retinal DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Double blind
- Who is masked
- Participant, Outcomes assessor
- Enrolment
- 300 participants (actual)
Sponsor and investigators
- Lead sponsor
- Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Xiaodong Sun, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
- Investigators
- Xiaodong Sun, PhD, Principal investigator, Shanhai General Hopsital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06839170
- Sponsor's protocol ID
- EyeFM-IRDs
- Other IDs
- 2022YFC2502800
- Acronym
- IRD
- Status last verified
- Mar 2026
- First submitted
- 11 Feb 2025
- Last updated
- 16 Mar 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Jia H, Qian B, Qu Y, Wang J, Chen J, Li T, Zheng C, Han J, Zhang G, Jin Y, Lee S, Chen X, Chen H, Xu J, Xu K, Rong Y, Jiang Y, Yang Y, Li W, Guo Q, Li Y, Li Y, Wu J, Zhang Q, Lu F, Zhuang W, Lei B, Byeon SH, Lee J, Smedowski A, Swierczynska M, Zhang D, Rim TH, Grzybowski A, Sheng B, Wong TY, Sun X. AI-based clinician decision support system for diagnosis of inherited retinal diseases: a multicenter, randomized trial. Nat Med. 2026 Jul 24. doi: 10.1038/s41591-026-04545-w. Online ahead of print.
PubMed 42498742
Study at a glance
From the registry record, last updated by the sponsor on 16 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multi-stage Evaluation Foundation Model for Inherited Retinal Diseases Care Needs: A Randomized Control Trial
- ClinicalTrials.gov ID
- NCT06839170
- Acronym / sponsor ID
- IRD / EyeFM-IRDs
- Conditions
- Inherited Retinal Diseases
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 300 participants (actual)
- Lead sponsor
- Shanghai General Hospital, Shanghai Jiao Tong University School of MedicineUniversity, hospital or other
- Study start
- 27 Feb 2025 (actual)
- Primary completion
- 7 Jun 2025 (actual)
- Study completion
- 1 Jul 2025 (actual)
- First posted
- 21 Feb 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Other
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Double blind (participant, outcomes assessor)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Retina4IRD(also designated as FM-IRDs) assisted arm | Experimental | Other: FM-IRDs assistedArm A: In the diagnostic process of IRD, retinal specialists make diagnostic decision with the assistance of FM-IRDs. |
| 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- Presenting with clinical features suggestive of suspected IRD based on the initial assessment by the physician
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| FM-IRDs assistedA Foundation Model for Assisting the precision Diagnosis of Inherited Retinal Diseases: FM-IRDs | Other | Retina4IRD(also designated as FM-IRDs) assisted arm |
| without FM-IRDswithout FM-IRDs | Other | – |
Primary outcome
The diagnostic accuracy of IRDs
Time frame: 21 days
The top-5 gene mutation prediction accuracy, which will be assessed after all participants of the study have had WES test
1 secondary outcome
Quality of the health management strategy
Time frame: 7 days
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Mar 2026.
- Derived from this study: PubMed 42498742Jia H, Qian B, Qu Y, Wang J, Chen J, Li T, Zheng C, Han J, Zhang G, Jin Y, Lee S, Chen X, Chen H, Xu J, Xu K, Rong Y, Jiang Y, Yang Y, Li W, Guo Q, Li Y, Li Y, Wu J, Zhang Q, Lu F, Zhuang W, Lei B, Byeon SH, Lee J, Smedowski A, Swierczynska M, Zhang D, Rim TH, Grzybowski A, Sheng B, Wong TY, Sun X. AI-based clinician decision support system for diagnosis of inherited retinal diseases: a multicenter, randomized trial. Nat Med. 2026 Jul 24. doi: 10.1038/s41591-026-04545-w. Online ahead of print.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Xiaodong Sun, PhD principal investigator
Shanhai General Hopsital
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing FM-IRDs assisted and without FM-IRDs in people with Inherited Retinal Diseases, run by Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine at 2 sites in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 16 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The diagnostic accuracy of IRDs (time frame: 21 days). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06839170, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Mar 2026.