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AI for Rare Disease Diagnosis in Real World

14. juni 2026 opdateret af: Shuyang Zhang, MD, PhD, Peking Union Medical College Hospital

A Multicentre, Prospective, Cluster-Randomised, Parallel-Controlled Trial of a Rare-Disease Large Language Model in Real-World Clinical Settings

A multicentre, prospective, cluster-randomised, parallel-controlled real-world effectiveness study evaluating whether a rare-disease diagnostic large language model can improve diagnostic quality, efficiency, and health-economic outcomes for physicians managing patients with suspected rare or diagnostically unresolved disease.

Studieoversigt

Status

Ikke rekrutterer endnu

Betingelser

Intervention / Behandling

Detaljeret beskrivelse

Rare disease patients commonly experience prolonged diagnostic odysseys rooted in limited rare disease recognition, phenotypic heterogeneity, and dispersed diagnostic clues. Diagnostic decision-support large language models may improve first-visit consultations by integrating prior records, generating structured analyses, and proposing candidate diagnoses, thereby shortening diagnostic pathways and improving appropriate genetic testing referral.

Here, rare diseases clinics are established at 12 clinical institutions using a two-level randomisation structure: (1) cluster randomisation of physicians stratified by seniority tier and centre, with physician arm fixed throughout to eliminate contamination; (2) eligible consented patients randomly assigned to consultation rooms, blinding patients to arm assignment and providing allocation concealment.

In the intervention arm, patients interact with the AI before their consultation; physicians will review the AI report and interact with AI when seeing patients. In the control arm, patients are seen under standard hospital workflow without any generative AI tools. Outcomes adjudicated by an independent Expert Committee blinded to arm assignment; adjudicators access no AI-generated materials.

Undersøgelsestype

Interventionel

Tilmelding (Anslået)

1055

Fase

  • Ikke anvendelig

Kontakter og lokationer

Dette afsnit indeholder kontaktoplysninger for dem, der udfører undersøgelsen, og oplysninger om, hvor denne undersøgelse udføres.

Studiekontakt

Studiesteder

  • Kina
      • Beijing, Kina
        • Peking Union Medical College Hospital
        • Kontakt:
      • Cangzhou, Kina
        • Cangzhou Central Hospital
        • Kontakt:
      • Changchun, Kina
        • Changchun Sacred Heart Hospital
      • Dongguan, Kina
        • Dongguan People's Hospital
      • Foshan, Kina
        • First People's Hospital of Foshan
      • Guiyang, Kina
        • Guizhou Provincial People's Hospital
      • Jilin City, Kina
        • Jilin Central General Hospital
      • Kunming, Kina
        • The First People's Hospital of Yunnan Province
      • Lhasa, Kina
        • Tibet Autonomous Region People's Hospital
      • Tianjin, Kina
        • Tianjin Children's Hospital
      • Wuhai, Kina
        • Wuhai People's Hospital
      • Xining, Kina
        • Qinghai Provincial People's Hospital
      • Zhangzhou, Kina
        • Zhangzhou Municipal Hospital of Fujian Province

Deltagelseskriterier

Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.

Berettigelseskriterier

Aldre berettiget til at studere

  • Barn
  • Voksen
  • Ældre voksen

Tager imod sunde frivillige

Ingen

Beskrivelse

Patient Inclusion Criteria:

  • Any age. Legal guardian co-signs consent for minors or individuals lacking legal capacity.
  • Diagnostically unresolved or suspected rare disease, with at least one prior complete clinical evaluation at a secondary-level or higher institution yielding no confirmed explanatory diagnosis.
  • First presentation to the enrolling institution for the current condition, with no prior records in the institutional HIS or outpatient system.
  • No prior genetic testing related to the current condition; no results or reports available.
  • Written informed consent provided voluntarily by patient or legal guardian, with commitment and ability to complete structured follow-up.

Patient Exclusion Criteria:

  • Confirmed diagnosis (clinical, pathological, or molecular) explaining the primary symptoms.
  • Emergency presentation, critical illness, or any condition incompatible with trial participation.
  • Neither patient nor legally authorised proxy able to complete follow-up.
  • Concurrent enrollment in another interventional study with diagnostic accuracy or genetic testing yield as a primary endpoint.
  • Prior use of another AI system has already yielded a confirmed diagnosis for the current condition.

Physician Inclusion Criteria

  • Licensed physician in internal medicine, neurology, pediatrics, general medicine, rare disease, or a related specialty.
  • ≥2 years of clinical practice; competent to manage rare disease patients; stratified into junior or senior tier.
  • Voluntary participation with written informed consent.

Physician Exclusion Criteria

  • No longer in clinical practice, or unable to fulfill required outpatient duties during the study period.
  • Unwilling to provide informed consent or to permit protocol-required collection of consultation and questionnaire data.
  • Currently enrolled in another AI-assisted clinical workflow, or expected to be unable to comply with the procedures.

Studieplan

Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.

Hvordan er undersøgelsen tilrettelagt?

Design detaljer

  • Primært formål: Diagnostisk
  • Tildeling: Randomiseret
  • Interventionel model: Parallel tildeling
  • Maskning: Enkelt

Våben og indgreb

Deltagergruppe / Arm
Intervention / Behandling
Eksperimentel: AI system
Patients and physicians will use the study AI system prior to and during the encounter in addition to conventional clinical workflow. Use of other generative AI tools is prohibited.
Andet: AI system

Prior to consultation, the AI system will interact with patients to build a personalised medical profile, generate a structured clinical analysis, and recommend candidate diagnoses.

During the encounter, the AI system will interact with and be reviewed by physicians.
Ingen indgriben: Standard of care
Patients proceed directly to the consultation room without AI interaction. The attending physician conducts the encounter per standard hospital workflow using conventional clinical resources only. Use of any generative AI tool is prohibited.

Hvad måler undersøgelsen?

Primære resultatmål

Resultatmål
Foranstaltningsbeskrivelse
Tidsramme
Top-3 Candidate Diagnostic Accuracy
Tidsramme: From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
The proportion of patients whose physician-provided up to 3 candidate diagnoses at the first study visit include at least one concordant with the final reference diagnosis (denominator: all randomised patients with a blinded-adjudicated confirmed reference diagnosis; intention-to-treat population).
From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
Rare Genetic Disease Diagnostic Yield
Tidsramme: From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
The proportion of all randomised patients who underwent genetic testing and had a clinically significant genetic variant (pathogenic or likely pathogenic) confirmed by an independent review committee blinded to arm assignment (denominator: all randomised patients). Variant pathogenicity classified per predefined ACMG/AMP guidelines.
From the first visit to final reference diagnosis adjudication, an average of 8 weeks.

Sekundære resultatmål

Resultatmål
Foranstaltningsbeskrivelse
Tidsramme
Overall Diagnostic Yield
Tidsramme: From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
Proportion of all randomised patients who receive a confirmed clinical diagnosis (confirmed by independent expert review) during the trial period.
From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
Overall Diagnostic Accuracy
Tidsramme: From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
Among patients with a confirmed clinical diagnosis, the proportion whose diagnosis is concordant with the blinded-adjudicated final reference diagnosis.
From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
Time to Diagnosis
Tidsramme: From enrollment to the end of follow-up, up to 8 weeks.
Days from first visit to obtaining clinical diagnosis within the follow-up period. Patients without a confirmed diagnosis censored at end of follow-up.
From enrollment to the end of follow-up, up to 8 weeks.
Consultation Duration
Tidsramme: Assessed at each consultation (day 1), within 1 day.
In-room consultation time will be recorded, measured, and compared between arms. Pre-consultation AI interaction time and total visit time are additionally recorded for the intervention arm to fully characterise efficiency impact.
Assessed at each consultation (day 1), within 1 day.
Cost to Diagnosis
Tidsramme: From enrollment to the end of follow-up, up to 8 weeks.
Cumulative costs from first visit to confirmed diagnosis (or end of follow-up for undiagnosed patients), including direct medical costs, direct non-medical costs, and indirect costs.
From enrollment to the end of follow-up, up to 8 weeks.
Physician-Reported Experience
Tidsramme: Assessed at each consultation (day 1), within 1 day.
Physicians will assess their experience of the diagnostic workflow. Responses will be recorded using a standardized rating scale (range 1-5, where higher scores indicate more positive experience).
Assessed at each consultation (day 1), within 1 day.
Patient-Reported Experience
Tidsramme: Assessed at each consultation (day 1), within 1 day.
Patients will assess their experience of the diagnostic workflow. Responses will be recorded using a standardized rating scale (range 1-5, where higher scores indicate more positive experience).
Assessed at each consultation (day 1), within 1 day.
Genetic Testing Referral Rate
Tidsramme: Assessed at each consultation (day 1), within 1 day.
Proportion of all randomised patients for whom the physician autonomously decides to refer for genetic testing, capturing the effect of AI intervention on referral behaviour.
Assessed at each consultation (day 1), within 1 day.
Positive Rate Among Referred Patients
Tidsramme: From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
The proportion in whom a clinically significant (pathogenic or likely pathogenic) genetic variant was detected among patients who completed genetic testing.
From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
Cost-Effectiveness Analysis
Tidsramme: From the first visit to diagnosis or the end of follow-up, up to 8 weeks.
Incremental cost-effectiveness ratio (incremental cost per additional correct diagnosis) as primary metric combining diagnostic yield with cumulative medical costs.
From the first visit to diagnosis or the end of follow-up, up to 8 weeks.

Samarbejdspartnere og efterforskere

Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.

Sponsor

Peking Union Medical College Hospital

Samarbejdspartnere

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

Efterforskere

  • Ledende efterforsker: Shuyang Zhang, MD, PhD, Peking Union Medical College Hospital

Datoer for undersøgelser

Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.

Studer store datoer

Studiestart (Anslået)

20. juni 2026

Primær færdiggørelse (Anslået)

1. juli 2027

Studieafslutning (Anslået)

1. december 2027

Datoer for studieregistrering

Først indsendt

7. juni 2026

Først indsendt, der opfyldte QC-kriterier

14. juni 2026

Først opslået (Faktiske)

16. juni 2026

Opdateringer af undersøgelsesjournaler

Sidste opdatering sendt (Faktiske)

16. juni 2026

Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier

14. juni 2026

Sidst verificeret

1. juni 2026

Mere information

Begreber relateret til denne undersøgelse

Nøgleord

Yderligere relevante MeSH-vilkår

Andre undersøgelses-id-numre

  • PUMCH I-26PJ0002

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