AI-assisted Rare Disease Diagnosis
30 de julio de 2026 actualizado por: 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.
Descripción general del estudio
Estado
Aún no reclutando
Condiciones
Intervención / Tratamiento
Descripción detallada
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.
Tipo de estudio
Intervencionista
Inscripción (Estimado)
1056
Fase
- No aplica
Contactos y Ubicaciones
Esta sección proporciona los datos de contacto de quienes realizan el estudio e información sobre dónde se lleva a cabo este estudio.
Estudio Contacto
- Nombre: Shuyang Zhang, MD, PhD
- Número de teléfono: +86-13911667211
- Correo electrónico: shuyangzhang103@163.com
Ubicaciones de estudio
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Beijing, Porcelana
- Peking Union Medical College Hospital
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Contacto:
- Shuyang Zhang
- Número de teléfono: +86-13911667211
- Correo electrónico: shuyangzhang103@163.com
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Cangzhou, Porcelana
- Cangzhou Central Hospital
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Contacto:
- Yong Li
- Número de teléfono: +86-0317-2075013
- Correo electrónico: czszxyyirb@163.com
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Changchun, Porcelana
- Changchun Sacred Heart Hospital
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Dongguan, Porcelana
- Dongguan People's Hospital
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Foshan, Porcelana
- First People's Hospital of Foshan
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Guiyang, Porcelana
- Guizhou Provincial People's Hospital
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Jilin City, Porcelana
- Jilin Central General Hospital
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Kunming, Porcelana
- The First People's Hospital of Yunnan Province
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Tianjin, Porcelana
- Tianjin Children's Hospital
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Tianshui, Porcelana
- Tianshui 407 Hospital
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Contacto:
- Rong Sun
- Número de teléfono: +86-0938-8229999
- Correo electrónico: ts407yy@sina.com
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Wuhai, Porcelana
- Wuhai People's Hospital
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Xining, Porcelana
- Qinghai Provincial People's Hospital
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Zhangzhou, Porcelana
- Zhangzhou Municipal Hospital of Fujian Province
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Criterios de participación
Los investigadores buscan personas que se ajusten a una determinada descripción, denominada criterio de elegibilidad. Algunos ejemplos de estos criterios son el estado de salud general de una persona o tratamientos previos.
Criterio de elegibilidad
Edades elegibles para estudiar
- Niño
- Adulto
- Adulto Mayor
Acepta Voluntarios Saludables
No
Descripción
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 de estudios
Esta sección proporciona detalles del plan de estudio, incluido cómo está diseñado el estudio y qué mide el estudio.
¿Cómo está diseñado el estudio?
Detalles de diseño
- Propósito principal: Diagnóstico
- Asignación: Aleatorizado
- Modelo Intervencionista: Asignación paralela
- Enmascaramiento: Único
Armas e Intervenciones
Grupo de participantes/brazo |
Intervención / Tratamiento |
|---|---|
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Experimental: 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.
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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.
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Sin intervención: 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.
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¿Qué mide el estudio?
Medidas de resultado primarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Overall Correct Diagnostic Yield
Periodo de tiempo: From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
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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.
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From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
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Medidas de resultado secundarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Physician-Reported Experience
Periodo de tiempo: Assessed at each consultation (day 1), within 1 day.
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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).
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Assessed at each consultation (day 1), within 1 day.
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Patient-Reported Experience
Periodo de tiempo: Assessed at each consultation (day 1), within 1 day.
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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).
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Assessed at each consultation (day 1), within 1 day.
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Appropriate Genetic Testing Recommendation Rate
Periodo de tiempo: From the initial consultation to genetic testing indication adjudication, approximately 8 weeks
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The proportion of randomized patients for whom physician-recommended genetic testing is concordant with the indication determined by an independent genetics adjudication committee.
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From the initial consultation to genetic testing indication adjudication, approximately 8 weeks
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Candidate Diagnostic Accuracy
Periodo de tiempo: From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
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The agreement between physician-provided candidate diagnoses in the the initial consultation and the independently adjudicated reference diagnosis.
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From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
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Molecular Diagnostic Yield
Periodo de tiempo: From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
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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.
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From the first visit to final reference diagnosis adjudication, an average of 8 weeks.
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Time to a Correct Diagnosis
Periodo de tiempo: From enrollment to the end of follow-up, up to 8 weeks.
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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.
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From enrollment to the end of follow-up, up to 8 weeks.
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Duration of the Initial Physician Consultation
Periodo de tiempo: Assessed at each consultation (day 1), within 1 day.
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In-room consultation time will be recorded, measured, and compared between arms.
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Assessed at each consultation (day 1), within 1 day.
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Colaboradores e Investigadores
Aquí es donde encontrará personas y organizaciones involucradas en este estudio.
Patrocinador
Colaboradores
Investigadores
- Investigador principal: Shuyang Zhang, MD, PhD, Peking Union Medical College Hospital
Fechas de registro del estudio
Estas fechas rastrean el progreso del registro del estudio y los envíos de resultados resumidos a ClinicalTrials.gov. Los registros del estudio y los resultados informados son revisados por la Biblioteca Nacional de Medicina (NLM) para asegurarse de que cumplan con los estándares de control de calidad específicos antes de publicarlos en el sitio web público.
Fechas importantes del estudio
Inicio del estudio (Estimado)
1 de agosto de 2026
Finalización primaria (Estimado)
1 de julio de 2027
Finalización del estudio (Estimado)
1 de diciembre de 2027
Fechas de registro del estudio
Enviado por primera vez
7 de junio de 2026
Primero enviado que cumplió con los criterios de control de calidad
14 de junio de 2026
Publicado por primera vez (Actual)
16 de junio de 2026
Actualizaciones de registros de estudio
Última actualización publicada (Actual)
31 de julio de 2026
Última actualización enviada que cumplió con los criterios de control de calidad
30 de julio de 2026
Última verificación
1 de julio de 2026
Más información
Términos relacionados con este estudio
Palabras clave
Términos MeSH relevantes adicionales
Otros números de identificación del estudio
- PUMCH I-26PJ0002
Plan de datos de participantes individuales (IPD)
¿Planea compartir datos de participantes individuales (IPD)?
SÍ
Descripción del plan IPD
De-identified IPD will be shared with qualified researchers upon reasonable request, subject to ethics approval and a data use agreement.
Marco de tiempo para compartir IPD
Beginning 6 months after publication of the primary study results and ending 5 years after publication.
Criterios de acceso compartido de IPD
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.
Tipo de información de apoyo para compartir IPD
- PROTOCOLO DE ESTUDIO
- SAVIA
- CÓDIGO_ANALÍTICO
Información sobre medicamentos y dispositivos, documentos del estudio
Estudia un producto farmacéutico regulado por la FDA de EE. UU.
No
Estudia un producto de dispositivo regulado por la FDA de EE. UU.
No
Esta información se obtuvo directamente del sitio web clinicaltrials.gov sin cambios. Si tiene alguna solicitud para cambiar, eliminar o actualizar los detalles de su estudio, comuníquese con register@clinicaltrials.gov. Tan pronto como se implemente un cambio en clinicaltrials.gov, también se actualizará automáticamente en nuestro sitio web. .