Clinical trial · Observational
Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From Patients With Embryonal or Alveolar Rhabdomyosarcoma
Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS)
NCT03296371CI-TRIAL-00102737active not recruitingClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (2)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Alveolar Rhabdomyosarcoma | Alveolar Rhabdomyosarcoma | ONTOLOGY_EXACT | 0.90 |
| Embryonal Rhabdomyosarcoma | Embryonal Rhabdomyosarcoma | ONTOLOGY_EXACT | 0.90 |
Interventions
Interventions (3)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Biospecimen Collection | Procedure | — | UNRESOLVED |
| Laboratory Biomarker Analysis | Other | — | UNRESOLVED |
| Questionnaire Administration | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- label
- Ancillary-Correlative (biospecimen collection)
- description
- 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.
- interventionNames
- Procedure: Biospecimen Collection
- Other: Laboratory Biomarker Analysis
- Other: Questionnaire Administration
Primary outcomes (2)
- measure
- Novel recurrent de novo germline mutation identification
- timeFrame
- Up to 3 years
- description
- 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.
- measure
- Frequency of de novo germline mutations in cancer predisposition genes
- timeFrame
Eligibility
Eligibility (as posted)
- Sex
- All
- Maximum age
- 50 Years
Show eligibility criteria text
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
References
Publications (0)
Data not yet available
No reference posted for this study.