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AI for Rare Disease Diagnosis in Real World

14 czerwca 2026 zaktualizowane przez: 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.

Przegląd badań

Status

Jeszcze nie rekrutacja

Warunki

Interwencja / Leczenie

Szczegółowy opis

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 studiów

Interwencyjne

Zapisy (Szacowany)

1055

Faza

  • Nie dotyczy

Kontakty i lokalizacje

Ta sekcja zawiera dane kontaktowe osób prowadzących badanie oraz informacje o tym, gdzie badanie jest przeprowadzane.

Kontakt w sprawie studiów

Lokalizacje studiów

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

Kryteria uczestnictwa

Badacze szukają osób, które pasują do określonego opisu, zwanego kryteriami kwalifikacyjnymi. Niektóre przykłady tych kryteriów to ogólny stan zdrowia danej osoby lub wcześniejsze leczenie.

Kryteria kwalifikacji

Wiek uprawniający do nauki

  • Dziecko
  • Dorosły
  • Starszy dorosły

Akceptuje zdrowych ochotników

Nie

Opis

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.

Plan studiów

Ta sekcja zawiera szczegółowe informacje na temat planu badania, w tym sposób zaprojektowania badania i jego pomiary.

Jak projektuje się badanie?

Szczegóły projektu

  • Główny cel: Diagnostyczny
  • Przydział: Randomizowane
  • Model interwencyjny: Przydział równoległy
  • Maskowanie: Pojedynczy

Broń i interwencje

Grupa uczestników / Arm
Interwencja / Leczenie
Eksperymentalny: 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.
Inny: 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.
Brak interwencji: 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 mierzy badanie?

Podstawowe miary wyniku

Miara wyniku
Opis środka
Ramy czasowe
Top-3 Candidate Diagnostic Accuracy
Ramy czasowe: 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
Ramy czasowe: 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.

Miary wyników drugorzędnych

Miara wyniku
Opis środka
Ramy czasowe
Overall Diagnostic Yield
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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.

Współpracownicy i badacze

Tutaj znajdziesz osoby i organizacje zaangażowane w to badanie.

Sponsor

Peking Union Medical College Hospital

Współpracownicy

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

Śledczy

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

Daty zapisu na studia

Daty te śledzą postęp w przesyłaniu rekordów badań i podsumowań wyników do ClinicalTrials.gov. Zapisy badań i zgłoszone wyniki są przeglądane przez National Library of Medicine (NLM), aby upewnić się, że spełniają określone standardy kontroli jakości, zanim zostaną opublikowane na publicznej stronie internetowej.

Główne daty studiów

Rozpoczęcie studiów (Szacowany)

20 czerwca 2026

Zakończenie podstawowe (Szacowany)

1 lipca 2027

Ukończenie studiów (Szacowany)

1 grudnia 2027

Daty rejestracji na studia

Pierwszy przesłany

7 czerwca 2026

Pierwszy przesłany, który spełnia kryteria kontroli jakości

14 czerwca 2026

Pierwszy wysłany (Rzeczywisty)

16 czerwca 2026

Aktualizacje rekordów badań

Ostatnia wysłana aktualizacja (Rzeczywisty)

16 czerwca 2026

Ostatnia przesłana aktualizacja, która spełniała kryteria kontroli jakości

14 czerwca 2026

Ostatnia weryfikacja

1 czerwca 2026

Więcej informacji

Terminy związane z tym badaniem

Słowa kluczowe

Dodatkowe istotne warunki MeSH

Inne numery identyfikacyjne badania

  • PUMCH I-26PJ0002

Informacje o lekach i urządzeniach, dokumenty badawcze

Bada produkt leczniczy regulowany przez amerykańską FDA

Nie

Bada produkt urządzenia regulowany przez amerykańską FDA

Nie

Te informacje zostały pobrane bezpośrednio ze strony internetowej clinicaltrials.gov bez żadnych zmian. Jeśli chcesz zmienić, usunąć lub zaktualizować dane swojego badania, skontaktuj się z register@clinicaltrials.gov. Gdy tylko zmiana zostanie wprowadzona na stronie clinicaltrials.gov, zostanie ona automatycznie zaktualizowana również na naszej stronie internetowej .

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