Molekylær basis for Langerhans og ikke-Langerhans cellehistiocytiske neoplasmer og Castlemans sygdom
Eksplorativ analyse af det molekylære grundlag for Langerhans og ikke-Langerhans cellehistiocytiske neoplasmer og Castlemans sygdom
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.
Studieoversigt
Status
Betingelser
Intervention / Behandling
Detaljeret beskrivelse
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.
Undersøgelsestype
Tilmelding (Anslået)
Fase
- Ikke anvendelig
Kontakter og lokationer
Studiesteder
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Ohio
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Cleveland, Ohio, Forenede Stater, 44106-5065
- Cleveland Clinic, Case Comprehensive Cancer Center
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Deltagelseskriterier
Berettigelseskriterier
Aldre berettiget til at studere
Tager imod sunde frivillige
Køn, der er berettiget til at studere
Beskrivelse
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
Studieplan
Hvordan er undersøgelsen tilrettelagt?
Design detaljer
- Primært formål: Screening
- Tildeling: N/A
- Interventionel model: Enkelt gruppeopgave
- Maskning: Ingen (Åben etiket)
Våben og indgreb
Deltagergruppe / Arm |
Intervention / Behandling |
|---|---|
|
Eksperimentel: 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. |
Hvad måler undersøgelsen?
Primære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
|
Proportion of genomic analyses yielding genetic aberrations
Tidsramme: Up to 12 months from last participant accrued
|
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
|
Sekundære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
|
Andel af genomiske analyser, der giver genetiske aberrationer i kimlinien
Tidsramme: Op til 12 måneder fra sidste deltager er optjent
|
Op til 12 måneder fra sidste deltager er optjent
|
|
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Proportion of genomic analyses yielding actionable genetic aberrations
Tidsramme: Up to 12 months from last participant accrued
|
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
|
|
Referral rates for genetic counseling for germline mutations
Tidsramme: Up to 12 months from last participant accrued
|
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
|
|
Completion rates of genetic counseling for germline mutations
Tidsramme: Up to 12 months from last participant accrued
|
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
|
Samarbejdspartnere og efterforskere
Sponsor
Efterforskere
- Ledende efterforsker: Sudipto Mukherjee, MD, PhD, Cleveland Clinic, Case Comprehensive Cancer Center
Datoer for undersøgelser
Studer store datoer
Studiestart (Faktiske)
Primær færdiggørelse (Anslået)
Studieafslutning (Anslået)
Datoer for studieregistrering
Først indsendt
Først indsendt, der opfyldte QC-kriterier
Først opslået (Faktiske)
Opdateringer af undersøgelsesjournaler
Sidste opdatering sendt (Faktiske)
Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier
Sidst verificeret
Mere information
Begreber relateret til denne undersøgelse
Yderligere relevante MeSH-vilkår
- Sygdomme i immunsystemet
- Luftvejssygdomme
- Lungesygdomme
- Lymfesygdomme
- Lymfoproliferative lidelser
- Immunproliferative lidelser
- Lungesygdomme, interstitielle
- Histiocytose
- Hemiske og lymfatiske sygdomme
- Castlemans sygdom
- Histiocytose, Langerhans-celle
- Histiocytose, ikke-langerhans-celle
- Undersøgelsesteknikker
- Kliniske laboratorieteknikker
- Diagnostiske teknikker og procedurer
- Diagnose
- Sundhedstjenester
- Sundhedsfaciliteter Arbejdsstyrke og tjenester
- Forebyggende sundhedsydelser
- Genetiske teknikker
- Genetiske tjenester
- Diagnostiske tjenester
- Genetisk test
Andre undersøgelses-id-numre
- CASE7Z20
Plan for individuelle deltagerdata (IPD)
Planlægger du at dele individuelle deltagerdata (IPD)?
IPD-planbeskrivelse
Deidentified IPD will be shared to maintain patient confidentiality
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