Bases moleculares de las neoplasias histiocíticas de células de Langerhans y no Langerhans y la enfermedad de Castleman
Análisis exploratorio de la base molecular de las neoplasias histiocíticas de células de Langerhans y no Langerhans y la enfermedad de Castleman
The purpose of this study is to use agnostic genomic evaluation using whole exome sequencing (WES) of a variety of rare hematologic diseases grouped under rare blood diseases and its variants to further elucidate the understanding of the chemistry of these disorders and identify potential actionable mutations that can be targeted with therapies in the context of clinical trials.
Descripción general del estudio
Estado
Condiciones
Intervención / Tratamiento
Descripción detallada
The study team will examine genetic changes, also known as mutations, in the DNA of participants' blood, or if applicable, bone marrow specimen. These types of tests are increasingly used by doctors to improve the accuracy of diagnosis and make decisions during care. This study seeks to understand how many patients will benefit from this testing, and in what ways. The results of this portion of the study are placed in the individual's medical record and are communicated back to each participant.
Tipo de estudio
Inscripción (Estimado)
Fase
- No aplica
Contactos y Ubicaciones
Ubicaciones de estudio
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Ohio
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Cleveland, Ohio, Estados Unidos, 44106-5065
- Cleveland Clinic, Case Comprehensive Cancer Center
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Criterios de participación
Criterio de elegibilidad
Edades elegibles para estudiar
Acepta Voluntarios Saludables
Géneros elegibles para el estudio
Descripción
Inclusion Criteria:
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Must have histopathologic confirmation of the particular rare hematologic disease.
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Diseases that will be considered as rare hematologic diseases for this study will include the following
- Langerhans cell histiocytosis (LCH)
- Erdhiem Chester disease (ECD)
- Rosai-Dorfman disease (RDD)
- Miscellaneous histiocytic entities -indeterminate dendritic cell tumor, interdigitating dendritic cell sarcoma, follicular dendritic cell sarcoma, fibroblastic reticular cell tumor
- Unicentric Castleman disease
- Multicentric Castleman disease including TAFRO
- Follicular Dendritic Cell sarcoma (FDCS)
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Newly diagnosed treatment naïve patients as well as patients who received prior therapies (e.g. chemotherapy, targeted therapy, surgery, or radiation) will be included. -Tissue specimens collected within the past 5 yearse will be considered acceptable for study inclusion will include the following
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Collected as part of the evaluation for diagnostic confirmation
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Tissue specimen or extracted DNA (from blood sample) banked in IRB approved tissue repositories and obtained within five years prior to the date of informed consent. -Tissue samples are planned to be collectedfrom previously stored surgical specimens already being stored in pathology lab
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Consent to have germline testing performed in parallel to tumor testingg)Patients willing to receive treatmen
Exclusion Criteria:
- Life expectancy of less than 6months
- Patient unwilling to have germline testing performed on peripheral blood or buccal mucosa
Plan de estudios
¿Cómo está diseñado el estudio?
Detalles de diseño
- Propósito principal: Poner en pantalla
- Asignación: N / A
- Modelo Intervencionista: Asignación de un solo grupo
- Enmascaramiento: Ninguno (etiqueta abierta)
Armas e Intervenciones
Grupo de participantes/brazo |
Intervención / Tratamiento |
|---|---|
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Experimental: Genomic analysis
When a participant's disorder was diagnosed, blood or tissue specimen was collected. A part of the tissue or blood will be sent to an outside company, Tempus, to be tested for specific genetic changes and the results will be sent back to participants' physician. |
Genetic testing of blood or tissue sample and limited medical information sent to an outside company. Database will link genome sequence data with human trait information, including cancer and other diseases, to be sent to participant's physician. |
¿Qué mide el estudio?
Medidas de resultado primarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Proportion of genomic analyses yielding genetic aberrations
Periodo de tiempo: Up to 12 months from last participant accrued
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Proportion of genomic analyses yielding actionable genetic aberrations. "Actionable" is defined as a mutation linked to an approved therapy in the particular disease under study or another disease, a known or suspected contraindication to a given therapy, or a clinical trial linked to the alteration |
Up to 12 months from last participant accrued
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Medidas de resultado secundarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Proporción de análisis genómicos que arrojan aberraciones genéticas de la línea germinal
Periodo de tiempo: Hasta 12 meses desde el último participante acumulado
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Hasta 12 meses desde el último participante acumulado
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Proportion of genomic analyses yielding actionable genetic aberrations
Periodo de tiempo: Up to 12 months from last participant accrued
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Actionable will be defined as a mutation linked to an approved therapy in the particular disease or another disease, a known or suspected contraindication to a given therapy, or a clinical trial linked to the alteration. |
Up to 12 months from last participant accrued
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Referral rates for genetic counseling for germline mutations
Periodo de tiempo: Up to 12 months from last participant accrued
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Number of participants with germline mutations who were referred to genetic counseling through Cancer Genetics for their identified germline mutations |
Up to 12 months from last participant accrued
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Completion rates of genetic counseling for germline mutations
Periodo de tiempo: Up to 12 months from last participant accrued
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Number of participants with germline mutations who were referred to, and underwent (completed) genetic counseling through Cancer Genetics. |
Up to 12 months from last participant accrued
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Colaboradores e Investigadores
Patrocinador
Investigadores
- Investigador principal: Sudipto Mukherjee, MD, PhD, Cleveland Clinic, Case Comprehensive Cancer Center
Fechas de registro del estudio
Fechas importantes del estudio
Inicio del estudio (Actual)
Finalización primaria (Estimado)
Finalización del estudio (Estimado)
Fechas de registro del estudio
Enviado por primera vez
Primero enviado que cumplió con los criterios de control de calidad
Publicado por primera vez (Actual)
Actualizaciones de registros de estudio
Última actualización publicada (Actual)
Última actualización enviada que cumplió con los criterios de control de calidad
Última verificación
Más información
Términos relacionados con este estudio
Términos MeSH relevantes adicionales
- Enfermedades del sistema inmunológico
- Enfermedades de las vías respiratorias
- Enfermedades pulmonares
- Enfermedades linfáticas
- Trastornos linfoproliferativos
- Trastornos inmunoproliferativos
- Enfermedades Pulmonares Intersticiales
- Histiocitosis
- Enfermedades hemic y linfáticas
- Enfermedad de Castleman
- Histiocitosis de células de Langerhans
- Histiocitosis De Células No Langerhans
- Técnicas de investigación
- Técnicas de laboratorio clínico
- Técnicas y procedimientos de diagnóstico
- Diagnóstico
- Servicios de salud
- Instalaciones de atención médica Fuerza laboral y servicios
- Servicios de salud preventivos
- Técnicas genéticas
- Servicios genéticos
- Servicios de diagnóstico
- Prueba genética
Otros números de identificación del estudio
- CASE7Z20
Plan de datos de participantes individuales (IPD)
¿Planea compartir datos de participantes individuales (IPD)?
Descripción del plan IPD
Deidentified IPD will be shared to maintain patient confidentiality
Información sobre medicamentos y dispositivos, documentos del estudio
Estudia un producto farmacéutico regulado por la FDA de EE. UU.
Estudia un producto de dispositivo regulado por la FDA de EE. UU.
producto fabricado y exportado desde los EE. UU.
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