Molekylär grund för Langerhans och icke-Langerhans cellhistiocytiska neoplasmer och Castlemans sjukdom
Exploratorisk analys av den molekylära basen för Langerhans och icke-Langerhans cellhistiocytiska neoplasmer och Castlemans sjukdom
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.
Studieöversikt
Status
Betingelser
Intervention / Behandling
Detaljerad beskrivning
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.
Studietyp
Inskrivning (Beräknad)
Fas
- Inte tillämpbar
Kontakter och platser
Studieorter
-
-
Ohio
-
Cleveland, Ohio, Förenta staterna, 44106-5065
- Cleveland Clinic, Case Comprehensive Cancer Center
-
-
Deltagandekriterier
Urvalskriterier
Åldrar som är berättigade till studier
Tar emot friska volontärer
Kön som är behöriga för studier
Beskrivning
Inclusion Criteria:
-
Must have histopathologic confirmation of the particular rare hematologic disease.
-
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)
-
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
-
Collected as part of the evaluation for diagnostic confirmation
-
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
-
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
Hur är studien utformad?
Designdetaljer
- Primärt syfte: Undersökning
- Tilldelning: N/A
- Interventionsmodell: Enskild gruppuppgift
- Maskning: Ingen (Open Label)
Vapen och interventioner
Deltagargrupp / Arm |
Intervention / Behandling |
|---|---|
|
Experimentell: 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. |
Vad mäter studien?
Primära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
|
Proportion of genomic analyses yielding genetic aberrations
Tidsram: 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
|
Sekundära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
|
Andel genomiska analyser som ger genetiska avvikelser i könsceller
Tidsram: Upp till 12 månader från senaste deltagare
|
Upp till 12 månader från senaste deltagare
|
|
|
Proportion of genomic analyses yielding actionable genetic aberrations
Tidsram: 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
Tidsram: 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
Tidsram: 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
|
Samarbetspartners och utredare
Sponsor
Utredare
- Huvudutredare: Sudipto Mukherjee, MD, PhD, Cleveland Clinic, Case Comprehensive Cancer Center
Studieavstämningsdatum
Studera stora datum
Studiestart (Faktisk)
Primärt slutförande (Beräknad)
Avslutad studie (Beräknad)
Studieregistreringsdatum
Först inskickad
Först inskickad som uppfyllde QC-kriterierna
Första postat (Faktisk)
Uppdateringar av studier
Senaste uppdatering publicerad (Faktisk)
Senaste inskickade uppdateringen som uppfyllde QC-kriterierna
Senast verifierad
Mer information
Termer relaterade till denna studie
Ytterligare relevanta MeSH-villkor
- Immunsystemets sjukdomar
- Luftvägssjukdomar
- Lungsjukdomar
- Lymfatiska sjukdomar
- Lymfoproliferativa störningar
- Immunproliferativa störningar
- Lungsjukdomar, interstitiell
- Histiocytos
- Hemiska och lymfsjukdomar
- Castlemans sjukdom
- Histiocytos, Langerhans-Cell
- Histiocytos, icke-langerhans-cell
- Undersökningstekniker
- Kliniska laboratorietekniker
- Diagnostiska tekniker och procedurer
- Diagnos
- Vårdtjänster
- Sjukvårdsanläggningar och tjänster
- Förebyggande hälsovårdstjänster
- Genetiska tekniker
- Genetiska tjänster
- Diagnostiska tjänster
- Genetisk testning
Andra studie-ID-nummer
- CASE7Z20
Plan för individuella deltagardata (IPD)
Planerar du att dela individuella deltagardata (IPD)?
IPD-planbeskrivning
Deidentified IPD will be shared to maintain patient confidentiality
Läkemedels- och apparatinformation, studiedokument
Studerar en amerikansk FDA-reglerad läkemedelsprodukt
Studerar en amerikansk FDA-reglerad produktprodukt
produkt tillverkad i och exporterad från U.S.A.
Denna information hämtades direkt från webbplatsen clinicaltrials.gov utan några ändringar. Om du har några önskemål om att ändra, ta bort eller uppdatera dina studieuppgifter, vänligen kontakta register@clinicaltrials.gov. Så snart en ändring har implementerats på clinicaltrials.gov, kommer denna att uppdateras automatiskt även på vår webbplats .