NCT03296371

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

Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS)

• Status: Active Not Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 900 (estimated)
• Sponsor: Children's Oncology Group · Network
• Sex: All
• Age: 50 Years
• Healthy volunteers: Not accepted

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. 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.

Conditions

• Alveolar Rhabdomyosarcoma
• Embryonal Rhabdomyosarcoma

Interventions

Type	Name	Description
PROCEDURE	Biospecimen Collection	Undergo saliva or buccal mucosa collection
OTHER	Laboratory Biomarker Analysis	Correlative studies
OTHER	Questionnaire Administration	Ancillary studies

Timeline

• Start date: 2017-10-23
• Primary completion: 2022-12-31
• Completion: 2026-12-31
• First posted: 2017-09-28
• Last updated: 2026-02-06

Locations

1 site across 1 country: United States