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AI for Rare Disease Diagnosis in Real World

14. června 2026 aktualizováno: 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.

Přehled studie

Postavení

Zatím nenabíráme

Podmínky

Intervence / Léčba

Detailní popis

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.

Typ studie

Intervenční

Zápis (Odhadovaný)

1055

Fáze

  • Nelze použít

Kontakty a umístění

Tato část poskytuje kontaktní údaje pro ty, kteří studii provádějí, a informace o tom, kde se tato studie provádí.

Studijní kontakt

Studijní místa

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

Kritéria účasti

Výzkumníci hledají lidi, kteří odpovídají určitému popisu, kterému se říká kritéria způsobilosti. Některé příklady těchto kritérií jsou celkový zdravotní stav osoby nebo předchozí léčba.

Kritéria způsobilosti

Věk způsobilý ke studiu

  • Dítě
  • Dospělý
  • Starší dospělý

Přijímá zdravé dobrovolníky

Ne

Popis

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.

Studijní plán

Tato část poskytuje podrobnosti o studijním plánu, včetně toho, jak je studie navržena a co studie měří.

Jak je studie koncipována?

Detaily designu

  • Primární účel: Diagnostický
  • Přidělení: Randomizované
  • Intervenční model: Paralelní přiřazení
  • Maskování: Singl

Zbraně a zásahy

Skupina účastníků / Arm
Intervence / Léčba
Experimentální: 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.
Jiný: 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.
Žádný zásah: 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.

Co je měření studie?

Primární výstupní opatření

Měření výsledku
Popis opatření
Časové okno
Top-3 Candidate Diagnostic Accuracy
Časové okno: 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
Časové okno: 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.

Sekundární výstupní opatření

Měření výsledku
Popis opatření
Časové okno
Overall Diagnostic Yield
Časové okno: 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
Časové okno: 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
Časové okno: 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
Časové okno: 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
Časové okno: 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
Časové okno: 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
Časové okno: 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
Časové okno: 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
Časové okno: 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
Časové okno: 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.

Spolupracovníci a vyšetřovatelé

Zde najdete lidi a organizace zapojené do této studie.

Sponzor

Peking Union Medical College Hospital

Spolupracovníci

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

Vyšetřovatelé

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

Termíny studijních záznamů

Tato data sledují průběh záznamů studie a předkládání souhrnných výsledků na ClinicalTrials.gov. Záznamy ze studií a hlášené výsledky jsou před zveřejněním na veřejné webové stránce přezkoumány Národní lékařskou knihovnou (NLM), aby se ujistily, že splňují specifické standardy kontroly kvality.

Hlavní termíny studia

Začátek studia (Odhadovaný)

20. června 2026

Primární dokončení (Odhadovaný)

1. července 2027

Dokončení studie (Odhadovaný)

1. prosince 2027

Termíny zápisu do studia

První předloženo

7. června 2026

První předloženo, které splnilo kritéria kontroly kvality

14. června 2026

První zveřejněno (Aktuální)

16. června 2026

Aktualizace studijních záznamů

Poslední zveřejněná aktualizace (Aktuální)

16. června 2026

Odeslaná poslední aktualizace, která splnila kritéria kontroly kvality

14. června 2026

Naposledy ověřeno

1. června 2026

Více informací

Termíny související s touto studií

Klíčová slova

Další relevantní podmínky MeSH

Další identifikační čísla studie

  • PUMCH I-26PJ0002

Informace o lécích a zařízeních, studijní dokumenty

Studuje lékový produkt regulovaný americkým FDA

Ne

Studuje produkt zařízení regulovaný americkým úřadem FDA

Ne

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