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AI for Rare Disease Diagnosis in Real World

14. Juni 2026 aktualisiert von: 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.

Studienübersicht

Status

Noch keine Rekrutierung

Bedingungen

Intervention / Behandlung

Detaillierte Beschreibung

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.

Studientyp

Interventionell

Einschreibung (Geschätzt)

1055

Phase

  • Unzutreffend

Kontakte und Standorte

Dieser Abschnitt enthält die Kontaktdaten derjenigen, die die Studie durchführen, und Informationen darüber, wo diese Studie durchgeführt wird.

Studienkontakt

Studienorte

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

Teilnahmekriterien

Forscher suchen nach Personen, die einer bestimmten Beschreibung entsprechen, die als Auswahlkriterien bezeichnet werden. Einige Beispiele für diese Kriterien sind der allgemeine Gesundheitszustand einer Person oder frühere Behandlungen.

Zulassungskriterien

Studienberechtigtes Alter

  • Kind
  • Erwachsene
  • Älterer Erwachsener

Akzeptiert gesunde Freiwillige

Nein

Beschreibung

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.

Studienplan

Dieser Abschnitt enthält Einzelheiten zum Studienplan, einschließlich des Studiendesigns und der Messung der Studieninhalte.

Wie ist die Studie aufgebaut?

Designdetails

  • Hauptzweck: Diagnose
  • Zuteilung: Zufällig
  • Interventionsmodell: Parallele Zuordnung
  • Maskierung: Single

Waffen und Interventionen

Teilnehmergruppe / Arm
Intervention / Behandlung
Experimental: 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.
Sonstiges: 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.
Kein Eingriff: 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.

Was misst die Studie?

Primäre Ergebnismessungen

Ergebnis Maßnahme
Maßnahmenbeschreibung
Zeitfenster
Top-3 Candidate Diagnostic Accuracy
Zeitfenster: 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
Zeitfenster: 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.

Sekundäre Ergebnismessungen

Ergebnis Maßnahme
Maßnahmenbeschreibung
Zeitfenster
Overall Diagnostic Yield
Zeitfenster: 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
Zeitfenster: 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
Zeitfenster: 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
Zeitfenster: 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
Zeitfenster: 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
Zeitfenster: 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
Zeitfenster: 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
Zeitfenster: 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
Zeitfenster: 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
Zeitfenster: 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.

Mitarbeiter und Ermittler

Hier finden Sie Personen und Organisationen, die an dieser Studie beteiligt sind.

Sponsor

Peking Union Medical College Hospital

Mitarbeiter

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

Ermittler

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

Studienaufzeichnungsdaten

Diese Daten verfolgen den Fortschritt der Übermittlung von Studienaufzeichnungen und zusammenfassenden Ergebnissen an ClinicalTrials.gov. Studienaufzeichnungen und gemeldete Ergebnisse werden von der National Library of Medicine (NLM) überprüft, um sicherzustellen, dass sie bestimmten Qualitätskontrollstandards entsprechen, bevor sie auf der öffentlichen Website veröffentlicht werden.

Haupttermine studieren

Studienbeginn (Geschätzt)

20. Juni 2026

Primärer Abschluss (Geschätzt)

1. Juli 2027

Studienabschluss (Geschätzt)

1. Dezember 2027

Studienanmeldedaten

Zuerst eingereicht

7. Juni 2026

Zuerst eingereicht, das die QC-Kriterien erfüllt hat

14. Juni 2026

Zuerst gepostet (Tatsächlich)

16. Juni 2026

Studienaufzeichnungsaktualisierungen

Letztes Update gepostet (Tatsächlich)

16. Juni 2026

Letztes eingereichtes Update, das die QC-Kriterien erfüllt

14. Juni 2026

Zuletzt verifiziert

1. Juni 2026

Mehr Informationen

Begriffe im Zusammenhang mit dieser Studie

Schlüsselwörter

Zusätzliche relevante MeSH-Bedingungen

Andere Studien-ID-Nummern

  • PUMCH I-26PJ0002

Arzneimittel- und Geräteinformationen, Studienunterlagen

Studiert ein von der US-amerikanischen FDA reguliertes Arzneimittelprodukt

Nein

Studiert ein von der US-amerikanischen FDA reguliertes Geräteprodukt

Nein

Diese Informationen wurden ohne Änderungen direkt von der Website clinicaltrials.gov abgerufen. Wenn Sie Ihre Studiendaten ändern, entfernen oder aktualisieren möchten, wenden Sie sich bitte an register@clinicaltrials.gov. Sobald eine Änderung auf clinicaltrials.gov implementiert wird, wird diese automatisch auch auf unserer Website aktualisiert .

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