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AI-assisted Rare Disease Diagnosis

30 juli 2026 uppdaterad av: Shuyang Zhang, MD, PhD, Peking Union Medical College Hospital

A Multicentre Randomised Controlled Trial of LLM-Assisted Diagnostic Support in Patients With Suspected Rare or Diagnostically Unresolved Disease

A multicentre randomised controlled trial 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.

Studieöversikt

Status

Har inte rekryterat ännu

Betingelser

Intervention / Behandling

Detaljerad beskrivning

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.

Participating physicians will provide care under both AI-assisted and standard diagnostic workflows. Eligible patients will be individually randomised to receive either AI-assisted diagnostic support or standard clinical practice.

In the intervention arm, physicians will have diagnostic support from 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.

A prospective within-trial economic evaluation will be conducted alongside the randomized trial. Healthcare resource use and costs associated with the diagnostic pathway will be collected.

Studietyp

Interventionell

Inskrivning (Beräknad)

1056

Fas

  • Inte tillämpbar

Kontakter och platser

Det här avsnittet innehåller kontaktuppgifter för dem som genomför studien och information om var denna studie genomförs.

Studiekontakt

Studieorter

  • 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
      • Tianjin, Kina
        • Tianjin Children's Hospital
      • Tianshui, Kina
        • Tianshui 407 Hospital
        • Kontakt:
      • Wuhai, Kina
        • Wuhai People's Hospital
      • Xining, Kina
        • Qinghai Provincial People's Hospital
      • Zhangzhou, Kina
        • Zhangzhou Municipal Hospital of Fujian Province

Deltagandekriterier

Forskare letar efter personer som passar en viss beskrivning, så kallade behörighetskriterier. Några exempel på dessa kriterier är en persons allmänna hälsotillstånd eller tidigare behandlingar.

Urvalskriterier

Åldrar som är berättigade till studier

  • Barn
  • Vuxen
  • Äldre vuxen

Tar emot friska volontärer

Nej

Beskrivning

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

Det här avsnittet ger detaljer om studieplanen, inklusive hur studien är utformad och vad studien mäter.

Hur är studien utformad?

Designdetaljer

  • Primärt syfte: Diagnostisk
  • Tilldelning: Randomiserad
  • Interventionsmodell: Parallellt uppdrag
  • Maskning: Enda

Vapen och interventioner

Deltagargrupp / Arm
Intervention / Behandling
Experimentell: AI system
AI system will be used to provide diagnostic support during the encounter in addition to conventional clinical workflow. Use of other generative AI tools is prohibited.
Övrig: AI system
The study AI system will be used to provide diagnostic support during the clinical encounter, including structuring relevant clinical information, generating a clinical analysis, and suggesting candidate diagnoses for review by the treating physician.
Inget ingripande: Standard of care
The physician conducts the encounter per standard hospital workflow using conventional clinical resources only. Use of any generative AI tool is prohibited.

Vad mäter studien?

Primära resultatmått

Resultatmått
Åtgärdsbeskrivning
Tidsram
Overall Correct Diagnostic Yield
Tidsram: From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
The proportion of all randomised patients whose clinical diagnosis by the end of follow-up is concordant with the blinded-adjudicated final reference diagnosis determined by an independent committee.
From the first visit to final reference diagnosis adjudication, an average of 8 weeks.

Sekundära resultatmått

Resultatmått
Åtgärdsbeskrivning
Tidsram
Physician-Reported Experience
Tidsram: 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
Tidsram: 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.
Appropriate Genetic Testing Recommendation Rate
Tidsram: From the initial consultation to genetic testing indication adjudication, approximately 8 weeks
The proportion of randomized patients for whom physician-recommended genetic testing is concordant with the indication determined by an independent genetics adjudication committee.
From the initial consultation to genetic testing indication adjudication, approximately 8 weeks
Candidate Diagnostic Accuracy
Tidsram: From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
The agreement between physician-provided candidate diagnoses in the the initial consultation and the independently adjudicated reference diagnosis.
From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
Molecular Diagnostic Yield
Tidsram: From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
The proportion of all randomized patients in whom genetic testing performed as part of the clinical diagnostic pathway identifies a clinically relevant molecular finding that is confirmed through independent genetics review.
From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
Time to a Correct Diagnosis
Tidsram: From enrollment to the end of follow-up, up to 8 weeks.
The number of days from the first study visit to the first physician-assigned diagnosis that is subsequently confirmed as concordant with the independently adjudicated reference diagnosis.
From enrollment to the end of follow-up, up to 8 weeks.
Duration of the Initial Physician Consultation
Tidsram: Assessed at each consultation (day 1), within 1 day.
In-room consultation time will be recorded, measured, and compared between arms.
Assessed at each consultation (day 1), within 1 day.

Samarbetspartners och utredare

Det är här du hittar personer och organisationer som är involverade i denna studie.

Sponsor

Peking Union Medical College Hospital

Samarbetspartners

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
Tianjin Children's Hospital
Zhangzhou Municipal Hospital

Utredare

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

Studieavstämningsdatum

Dessa datum spårar framstegen för inlämningar av studieposter och sammanfattande resultat till ClinicalTrials.gov. Studieposter och rapporterade resultat granskas av National Library of Medicine (NLM) för att säkerställa att de uppfyller specifika kvalitetskontrollstandarder innan de publiceras på den offentliga webbplatsen.

Studera stora datum

Studiestart (Beräknad)

1 augusti 2026

Primärt slutförande (Beräknad)

1 juli 2027

Avslutad studie (Beräknad)

1 december 2027

Studieregistreringsdatum

Först inskickad

7 juni 2026

Först inskickad som uppfyllde QC-kriterierna

14 juni 2026

Första postat (Faktisk)

16 juni 2026

Uppdateringar av studier

Senaste uppdatering publicerad (Faktisk)

31 juli 2026

Senaste inskickade uppdateringen som uppfyllde QC-kriterierna

30 juli 2026

Senast verifierad

1 juli 2026

Mer information

Termer relaterade till denna studie

Nyckelord

Ytterligare relevanta MeSH-villkor

Andra studie-ID-nummer

  • PUMCH I-26PJ0002

Plan för individuella deltagardata (IPD)

Planerar du att dela individuella deltagardata (IPD)?

JA

IPD-planbeskrivning

De-identified IPD will be shared with qualified researchers upon reasonable request, subject to ethics approval and a data use agreement.

Tidsram för IPD-delning

Beginning 6 months after publication of the primary study results and ending 5 years after publication.

Kriterier för IPD Sharing Access

Requests must include a scientifically sound research proposal and analysis plan, and evidence of ethics approval or exemption where applicable. Access will be subject to approval by the study steering committee and participating institutions, execution of a data use agreement, and compliance with applicable ethical, legal, and data-protection requirements. Data will be made available through a secure access environment or other controlled transfer mechanism. No directly identifiable participant information will be shared.

IPD-delning som stöder informationstyp

  • STUDY_PROTOCOL
  • SAV
  • ANALYTIC_CODE

Läkemedels- och apparatinformation, studiedokument

Studerar en amerikansk FDA-reglerad läkemedelsprodukt

Nej

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Nej

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