Exploratory Analysis of the Molecular Basis of Langerhans and Non-Langerhans Cell Histiocytic Neoplasms and Castleman Disease
试验速览
- 阶段
- 不适用
- 状态
- 暂停
- 入组人数
- 135
- 试验地点
- 1
- 主要终点
- Proportion of genomic analyses yielding genetic aberrations
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Screening
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •Life expectancy of less than 6months
- •Patient unwilling to have germline testing performed on peripheral blood or buccal mucosa
研究组 & 干预措施
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.
干预措施: Genetic testing (Diagnostic Test)
结局指标
主要结局
Proportion of genomic analyses yielding genetic aberrations
时间窗: 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
次要结局
- Completion rates of genetic counseling for germline mutations(Up to 12 months from last participant accrued)
- Proportion of genomic analyses yielding actionable genetic aberrations(Up to 12 months from last participant accrued)
- Referral rates for genetic counseling for germline mutations(Up to 12 months from last participant accrued)
- Proportion of genomic analyses yielding germline genetic aberrations(Up to 12 months from last participant accrued)