Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS)
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 900
- 试验地点
- 1
- 主要终点
- Frequency of de novo germline mutations in cancer predisposition genes
研究概览
简要总结
This research trial studies genetic mutations in saliva or buccal mucosa samples from patients with embryonal or alveolar rhabdomyosarcoma. Identifying gene mutations may help doctors learn about the prognosis of patients with embryonal or alveolar rhabdomyosarcoma.
详细描述
PRIMARY OBJECTIVES:
I. To identify novel recurrent de novo germline mutations among rhabdomyosarcoma (RMS) case-parent trios.
II. To identify the frequency of de novo germline mutations in cancer predisposition genes among RMS case-parent trios.
SECONDARY OBJECTIVES:
I. To conduct ?deep phenotyping? of children diagnosed with RMS utilizing questionnaire data and information from medical records.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 50 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •The patient must be enrolled on ACCRN07 and/or APEC14B1 and registered with COG by a North American member institution
- •The patient must have a diagnosis of embryonal rhabdomyosarcoma or alveolar rhabdomyosarcoma
- •The patient must be diagnosed with rhabdomyosarcoma between January 1, 2012 and November 30, 2019
- •Concomitant treatment on a therapeutic trial is not required
- •The patient must have at least one biological parent alive and willing to participate
- •All questionnaire respondents must understand English or Spanish
- •All patients and/or their parents or legal guardians must sign a written informed consent
- •All institutional, Food and Drug Administration (FDA), and National Cancer Institute (NCI) requirements for human studies must be met
排除标准
- 未提供
研究组 & 干预措施
Ancillary-Correlative (biospecimen collection)
Patients and their parents undergo collection of saliva or buccal mucosa samples for genetic mutational analysis. Germline DNA from saliva or buccal mucosa is evaluated via whole exome sequencing.
干预措施: Biospecimen Collection (Procedure)
Ancillary-Correlative (biospecimen collection)
Patients and their parents undergo collection of saliva or buccal mucosa samples for genetic mutational analysis. Germline DNA from saliva or buccal mucosa is evaluated via whole exome sequencing.
干预措施: Laboratory Biomarker Analysis (Other)
Ancillary-Correlative (biospecimen collection)
Patients and their parents undergo collection of saliva or buccal mucosa samples for genetic mutational analysis. Germline DNA from saliva or buccal mucosa is evaluated via whole exome sequencing.
干预措施: Questionnaire Administration (Other)
结局指标
主要结局
Frequency of de novo germline mutations in cancer predisposition genes
时间窗: Up to 3 years
Will conduct targeted sequencing using samples collected from the case and his/her parents in order to determine the prevalence of novel de novo mutations in cancer-syndrome genes associated with RMS.
Novel recurrent de novo germline mutation identification
时间窗: Up to 3 years
Will analyze de novo single-nucleotide variants (SNVs), copy-number variants (CNVs), and insertions/deletions (INDELs) obtained through next-generation exome sequencing of rhabdomyosarcoma (RMS) case-parent trios.
次要结局
- Deep phenotyping of children diagnosed with rhabdomyosarcoma utilizing questionnaires and medical record information(Up to 3 years)