Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From Patients With Embryonal or Alveolar Rhabdomyosarcoma

Embryonal Rhabdomyosarcoma Clinical Trial

Official title:

Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS)

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT03296371
• Other study ID #: AEPI15N1
• Secondary ID: NCI-2017-01665AE
• Status: Active, not recruiting
• Start date: October 23, 2017
• Est. completion date: December 31, 2024

Study information

• Verified date: February 2024
• Source: Children's Oncology Group
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

OUTLINE:

Patients and their parents undergo collection of saliva or buccal mucosa samples for genetic mutational analysis. Germline deoxyribonucleic acid (DNA) from saliva or buccal mucosa is evaluated via whole exome sequencing.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 900
• Est. completion date: December 31, 2024
• Est. primary completion date: December 31, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 50 Years

Eligibility

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

Related Conditions & MeSH terms

• Alveolar Rhabdomyosarcoma
• Embryonal Rhabdomyosarcoma
• Rhabdomyosarcoma

Intervention

Procedure:
• Biospecimen Collection
Undergo saliva or buccal mucosa collection

Other:
• Laboratory Biomarker Analysis
Correlative studies
• Questionnaire Administration
Ancillary studies

Locations

Country	Name	City	State
United States	Childrens Oncology Group	Philadelphia	Pennsylvania

Sponsors (2)

Lead Sponsor	Collaborator
Children's Oncology Group	National Cancer Institute (NCI)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Novel recurrent de novo germline mutation identification	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.	Up to 3 years
Primary	Frequency of de novo germline mutations in cancer predisposition genes	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.	Up to 3 years
Secondary	Deep phenotyping of children diagnosed with rhabdomyosarcoma utilizing questionnaires and medical record information	Analyses will be descriptive in nature.	Up to 3 years