Genetic Study of Families With High Frequency of Hodgkin Lymphoma
Hodgkin lymphoma (HL) is a relatively rare disorder with known familiar aggregation (i.e. HL in more than one child, or parent and child). Because affected individuals in familial HL are genetically related, the existence of such families has long been considered as evidence in support of a genetic basis of HL susceptibility. However, it is largely unknown which genetic variations are responsible for recurring HL in families. Because the effects of genetic variants are likely to be strong in familial HL, identification of such variations will potentially reveal biological pathways critical to the pathogenesis of HL.
PRIMARY OBJECTIVE:
- To perform genome-wide sequencing of families with recurring Hodgkin lymphoma cases (affected as well as non-affected family members) to identify potential disease-causing germline genetic variations.
SECONDARY OBJECTIVE:
- To describe demographic and clinical features of the affected families.
研究概览
地位
条件
详细说明
This study entails a clinical interview and submission of a peripheral blood or saliva sample for non-tumor DNA. Participants diagnosed with HL at outside institutions will be requested to sign a release form to allow the outside institution to send their pathology report confirming their HL diagnosis. If available, previously banked tumor tissue samples will be utilized to assess genetic alterations related to HL. Detailed history will be obtained (e.g., demographics, environmental exposures, cancer risk factors, and family pedigree) to facilitate the analysis of phenotype-genotype correlations, taking into account potential confounding factors.
Investigators will examine the germline and possibly the tumor DNA of each individual participant and use the data from all participants to determine if a gene change is related to HL.
研究类型
注册 (实际的)
联系人和位置
学习地点
-
-
Tennessee
-
Memphis、Tennessee、美国、38105
- St. Jude Children's Research Hospital
-
-
参与标准
资格标准
适合学习的年龄
- 孩子
- 成人
- 年长者
接受健康志愿者
有资格学习的性别
取样方法
研究人群
描述
Inclusion Criteria:
- Patient with HL diagnosed ≤ 21 years of age with a first-degree relative also diagnosed with HL.
- Family members of the patient, either affected or unaffected by a malignancy who agree to participate in the study.
- Research participant or legal guardian, as appropriate, must provide informed consent for this protocol.
Exclusion Criteria:
- Inability or unwillingness of research participant or legal guardian/representative to give written informed consent.
学习计划
研究是如何设计的？
设计细节
队列和干预
团体/队列 |
|---|
|
Participants with Hodgkin Lymphoma
Those with a confirmed diagnosis of Hodgkin Lymphoma (HL) and family members who consent and enroll in this study.
|
|
Family Members without Hodgkin Lymphoma
Those unaffected by HL will serve as a control group to compare with those with HL.
|
研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Germline genetic variations
大体时间：Once, within 1 month of enrollment
|
Whole exome sequencing of affected and unaffected individuals in these families will be performed.
Genetic variants potentially related to HL will be identified on the basis of its co-segregation with HL disease status (e.g., unique variants in individuals affected by HL would be considered as risk variants).
Family members without HL (regardless of any other history of malignancy) will be considered as control and be compared against members with HL.
|
Once, within 1 month of enrollment
|
合作者和调查者
出版物和有用的链接
研究记录日期
研究主要日期
学习开始 (实际的)
初级完成 (实际的)
研究完成 (实际的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (估计)
研究记录更新
最后更新发布 (实际的)
上次提交的符合 QC 标准的更新
最后验证
更多信息
此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.