Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS)
Trial Snapshot
- Phase
- Not Applicable
- Status
- Active, not recruiting
- Sponsor
- Children's Oncology Group
- Enrollment
- 900
- Locations
- 1
- Primary Endpoint
- Frequency of de novo germline mutations in cancer predisposition genes
Study Overview
Brief Summary
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.
Detailed Description
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.
Study Design
- Study Type
- Observational
- Observational Model
- Family Based
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- — to 50 Years (Child, Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •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
Exclusion Criteria
- Not provided
Arms & Interventions
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.
Intervention: 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.
Intervention: 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.
Intervention: Questionnaire Administration (Other)
Outcomes
Primary Outcomes
Frequency of de novo germline mutations in cancer predisposition genes
Time Frame: 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
Time Frame: 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.
Secondary Outcomes
- Deep phenotyping of children diagnosed with rhabdomyosarcoma utilizing questionnaires and medical record information(Up to 3 years)