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Artificial Intelligence for Rare Disease Diagnosis

3 juni 2026 bijgewerkt door: Shuyang Zhang, MD, PhD, Peking Union Medical College Hospital

A Multicentre, Randomised Diagnostic Accuracy Study Evaluating AI Assisted Diagnosis of Rare Diseases

A multicentre, randomised diagnostic accuracy study to evaluate whether the rare disease-specific AI can improve diagnostic accuracy and efficiency for physicians managing real-world clinical cases.

Studie Overzicht

Toestand

Nog niet aan het werven

Conditie

Interventie / Behandeling

Gedetailleerde beschrijving

Rare diseases collectively affect approximately 300 million individuals worldwide. This prolonged diagnostic delay is attributable in large part to the breadth of over 7,000 recognized rare conditions, which far exceeds the clinical exposure of any individual physician. A rare disease-specific diagnostic AI was developed by Peking Union Medical College Hospital (PUMCH), supporting differential diagnosis generation, clinical workup planning, and genomic variant interpretation. A balanced crossover design ensures that each enrolled physician serves as their own control, substantially reducing confounding from inter-reader variability in baseline diagnostic competency. Within each physician, cases are randomly assigned at the case level to either the AI-assisted or unassisted condition, such that each physician reads a subset of cases with AI assistance and the remaining cases without. This within-reader, case-level randomization eliminates the need for a washout period and directly controls for inter-reader differences in baseline diagnostic competency. All cases are collected from real-world clinical settings with independently confirmed gold-standard diagnoses and span a pre-specified spectrum of rare and non-rare disease categories, reflecting the differential diagnostic challenge encountered in routine clinical practice, to ensure diagnostic breadth and clinical representativeness. Physician seniority (junior vs. senior) is incorporated as a pre-specified stratification and subgroup analysis variable. Diagnostic outputs are evaluated by an independent Expert Adjudication Committee, blinded to the assistance condition, using standardized scoring criteria established prior to data collection.

Studietype

Ingrijpend

Inschrijving (Geschat)

150

Fase

  • Niet toepasbaar

Contacten en locaties

In dit gedeelte vindt u de contactgegevens van degenen die het onderzoek uitvoeren en informatie over waar dit onderzoek wordt uitgevoerd.

Studiecontact

Studie Locaties

  • China
      • Beijing, China
        • Peking Union Medical College Hospital
        • Contact:
      • Cangzhou, China
        • Cangzhou Central Hospital
        • Contact:
      • Changchun, China
        • Changchun Sacred Heart Hospital
        • Contact:
      • Dongguan, China
        • Dongguan People's Hospital
        • Contact:
      • Foshan, China
        • First People's Hospital of Foshan
        • Contact:
      • Guiyang, China
        • Guizhou Provincial People's Hospital
        • Contact:
      • Jilin City, China
        • Jilin Central General Hospital
        • Contact:
      • Kunming, China
        • The First People's Hospital of Yunnan Province
        • Contact:
          • Jianhong Hou
          • Telefoonnummer: +86-0871-63638800
          • E-mail: khyyyb@163.com
      • Lhasa, China
        • Tibet Autonomous Region People's Hospital
        • Contact:
      • Tianjin, China
        • Tianjin Children's Hospital
        • Contact:
      • Wuhai, China
        • Wuhai People's Hospital
        • Contact:
      • Xining, China
        • Qinghai Provincial People's Hospital
        • Contact:
      • Zhangzhou, China
        • Zhangzhou Municipal Hospital of Fujian Province
        • Contact:

Deelname Criteria

Onderzoekers zoeken naar mensen die aan een bepaalde beschrijving voldoen, de zogenaamde geschiktheidscriteria. Enkele voorbeelden van deze criteria zijn iemands algemene gezondheidstoestand of eerdere behandelingen.

Geschiktheidscriteria

Leeftijden die in aanmerking komen voor studie

  • Volwassen
  • Oudere volwassene

Accepteert gezonde vrijwilligers

Ja

Beschrijving

Inclusion Criteria:

  • 1. Licensed physicians at the junior or senior level affiliated with internal medicine, neurology, pediatrics, and rare disease-related departments.
  • 2. Willingness to provide written informed consent, adhere to trial protocols, and complete all required pre-study training prior to enrollment.

Exclusion Criteria:

  • 1. Prior exposure to any of the clinical cases included in the study case library.
  • 2. Direct participation in the design or development of the AI model.

Studie plan

Dit gedeelte bevat details van het studieplan, inclusief hoe de studie is opgezet en wat de studie meet.

Hoe is de studie opgezet?

Ontwerpdetails

  • Primair doel: Diagnostisch
  • Toewijzing: Gerandomiseerd
  • Interventioneel model: Crossover-opdracht
  • Masker: Enkel

Wapens en interventies

Deelnemersgroep / Arm
Interventie / Behandeling
Experimenteel: Intervention Arm
Physicians complete assigned diagnostic tasks with the assistance of AI system in addition to conventional clinical resources.
Ander: AI-Assisted Diagnosis
A rare disease-specific diagnostic AI model is used to accept free text input and assist in rare disease diagnoses. During the experimental condition, physicians may interact with the system freely alongside standard clinical resources to support their diagnostic reasoning.
Geen tussenkomst: Control Arm
Physicians complete the assigned diagnostic tasks using conventional clinical resources only (e.g., medical databases and literature), without access to any generative AI tools. This arm reflects routine clinical diagnostic practice.

Wat meet het onderzoek?

Primaire uitkomstmaten

Uitkomstmaat
Maatregel Beschrijving
Tijdsspanne
Top-3 Diagnostic Accuracy
Tijdsspanne: Up to 60 minutes per case (from case presentation to diagnostic report submission).
The percentage of definitive diagnosis is included within the physician's top 3 choices.
Up to 60 minutes per case (from case presentation to diagnostic report submission).

Secundaire uitkomstmaten

Uitkomstmaat
Maatregel Beschrijving
Tijdsspanne
Diagnosis Time per Case
Tijdsspanne: Up to 60 minutes per case (from case presentation to diagnostic report submission).
Elapsed time from initial case presentation to final diagnostic report submission, recorded automatically via system logs.
Up to 60 minutes per case (from case presentation to diagnostic report submission).
Workup Plan Quality
Tijdsspanne: Up to 60 minutes per case (from case presentation to diagnostic report submission).
Quality score of the clinical workup plan assigned by an independent expert committee using a standardized Likert Scale. Scores range from 1 to 10, with higher scores indicating better workup plan quality.
Up to 60 minutes per case (from case presentation to diagnostic report submission).
Physician Reported Usability of the AI-Assisted Diagnostic System
Tijdsspanne: Up to 60 minutes per case (upon completion of each case reading).
Physician-reported usability of the AI system, assessed after completion of each AI-assisted case reading using a 10-point physician-rated usability scale. Scores range from 1 to 10, with higher scores indicating better system usability.
Up to 60 minutes per case (upon completion of each case reading).
Physician Reported Workload
Tijdsspanne: Up to 60 minutes per case (upon completion of each case reading).
Task-related workload experienced by physicians, assessed after completion of each AI-assisted case reading using a 10-point Physician Workload Likert scale. Scores range from 1 to 10, with higher scores indicating a higher workload.
Up to 60 minutes per case (upon completion of each case reading).
Physician Satisfaction
Tijdsspanne: Up to 60 minutes per case (upon completion of each case reading).
Overall satisfaction of physicians with the diagnostic workflow, assessed after completion of each AI-assisted case reading using a 10-point Satisfaction Likert scale. Scores range from 1 to 10, with higher scores indicating higher satisfaction.
Up to 60 minutes per case (upon completion of each case reading).
Physician Intention to Adopt AI-Assisted Diagnostic Support
Tijdsspanne: Up to 60 minutes per case (upon completion of each case reading).
Physician willingness to integrate AI system into routine clinical practice, assessed after completion of each AI-assisted case reading using a 10-point Adoption Intention Likert scale. Scores range from 1 to 10, with higher scores indicating higher adoption intention.
Up to 60 minutes per case (upon completion of each case reading).

Medewerkers en onderzoekers

Hier vindt u mensen en organisaties die betrokken zijn bij dit onderzoek.

Sponsor

Peking Union Medical College Hospital

Medewerkers

Guizhou Provincial People's Hospital
First People's Hospital of Foshan
Dongguan People's Hospital
Qinghai People's Hospital
Cangzhou Central Hospital
The First People's Hospital of Yunnan
Tibet Autonomous Region People's Hospital
Tianjin Children's Hospital
Zhangzhou Municipal Hospital of Fujian Province

Onderzoekers

  • Hoofdonderzoeker: Shuyang Zhang, Peking Union Medical College Hospital

Studie record data

Deze datums volgen de voortgang van het onderzoeksdossier en de samenvatting van de ingediende resultaten bij ClinicalTrials.gov. Studieverslagen en gerapporteerde resultaten worden beoordeeld door de National Library of Medicine (NLM) om er zeker van te zijn dat ze voldoen aan specifieke kwaliteitscontrolenormen voordat ze op de openbare website worden geplaatst.

Bestudeer belangrijke data

Studie start (Geschat)

20 juni 2026

Primaire voltooiing (Geschat)

1 december 2026

Studie voltooiing (Geschat)

1 juni 2027

Studieregistratiedata

Eerst ingediend

28 mei 2026

Eerst ingediend dat voldeed aan de QC-criteria

3 juni 2026

Eerst geplaatst (Werkelijk)

4 juni 2026

Updates van studierecords

Laatste update geplaatst (Werkelijk)

4 juni 2026

Laatste update ingediend die voldeed aan QC-criteria

3 juni 2026

Laatst geverifieerd

1 juni 2026

Meer informatie

Termen gerelateerd aan deze studie

Trefwoorden

Aanvullende relevante MeSH-voorwaarden

Andere studie-ID-nummers

  • PUMCH I-23PJ948

Informatie over medicijnen en apparaten, studiedocumenten

Bestudeert een door de Amerikaanse FDA gereguleerd geneesmiddel

Nee

Bestudeert een door de Amerikaanse FDA gereguleerd apparaatproduct

Nee

Deze informatie is zonder wijzigingen rechtstreeks van de website clinicaltrials.gov gehaald. Als u verzoeken heeft om uw onderzoeksgegevens te wijzigen, te verwijderen of bij te werken, neem dan contact op met register@clinicaltrials.gov. Zodra er een wijziging wordt doorgevoerd op clinicaltrials.gov, wordt deze ook automatisch bijgewerkt op onze website .

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