NCT03296371

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.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
900

participants targeted

Target at P75+ for all trials

Timeline
8mo left

Started Oct 2017

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Progress93%
Oct 2017Dec 2026

First Submitted

Initial submission to the registry

September 19, 2017

Completed
9 days until next milestone

First Posted

Study publicly available on registry

September 28, 2017

Completed
25 days until next milestone

Study Start

First participant enrolled

October 23, 2017

Completed
5.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2022

Completed
4 years until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2026

Expected
Last Updated

February 6, 2026

Status Verified

February 1, 2026

Enrollment Period

5.2 years

First QC Date

September 19, 2017

Last Update Submit

February 4, 2026

Conditions

Alveolar RhabdomyosarcomaEmbryonal Rhabdomyosarcoma

Outcome Measures

Primary Outcomes (2)

  • 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

  • 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 Outcomes (1)

  • Deep phenotyping of children diagnosed with rhabdomyosarcoma utilizing questionnaires and medical record information

    Up to 3 years

Study Arms (1)

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.

Procedure: Biospecimen CollectionOther: Laboratory Biomarker AnalysisOther: Questionnaire Administration

Interventions

Biospecimen CollectionPROCEDURE

Undergo saliva or buccal mucosa collection

Ancillary-Correlative (biospecimen collection)
Laboratory Biomarker AnalysisOTHER

Correlative studies

Ancillary-Correlative (biospecimen collection)
Questionnaire AdministrationOTHER

Ancillary studies

Ancillary-Correlative (biospecimen collection)

Eligibility Criteria

AgeUp to 50 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

Patients with embryonal or alveolar rhabdomyosarcoma enrolled on ACCRN07 and/or APEC14B1 and registered with Children's Oncology Group (COG)

You may qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Childrens Oncology Group

Philadelphia, Pennsylvania, 19104, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Saliva, buccal mucosa

MeSH Terms

Conditions

Rhabdomyosarcoma, AlveolarRhabdomyosarcoma, Embryonal

Condition Hierarchy (Ancestors)

RhabdomyosarcomaMyosarcomaNeoplasms, Muscle TissueNeoplasms, Connective and Soft TissueNeoplasms by Histologic TypeNeoplasmsSarcoma

Study Officials

  • Philip Lupo

    Children's Oncology Group

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
FAMILY BASED
Time Perspective
PROSPECTIVE
Sponsor Type
NETWORK
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 19, 2017

First Posted

September 28, 2017

Study Start

October 23, 2017

Primary Completion

December 31, 2022

Study Completion (Estimated)

December 31, 2026

Last Updated

February 6, 2026

Record last verified: 2026-02

Locations

US(1)