Alveolar RhabdomyosarcomaNCT03296371
Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From Patients With Embryonal or Alveolar Rhabdomyosarcoma
An observational study of Alveolar Rhabdomyosarcoma and Embryonal Rhabdomyosarcoma, run by Children's Oncology Group at 1 site in United States.
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. Read more about this study
- Who is it for?
- Ages Up to 50 years
- Conditions the study is for
- Alveolar Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma
- What is being tested?
- Biospecimen Collection, Laboratory Biomarker Analysis and Questionnaire Administration
- Type of treatment
- Surgery or procedure
- How many people
- 900 participants
- Where
- 1 siteUnited States
- Study dates
- 23 Oct 2017to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Patients with embryonal or alveolar rhabdomyosarcoma enrolled on ACCRN07 and/or APEC14B1 and registered with Children's Oncology Group (COG)
Who may be able to join
- 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
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
Childrens Oncology Group
Philadelphia, Pennsylvania, 19104
About this study
Official title: Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS)
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.
Read the detailed description
PRIMARY OBJECTIVES:
- 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:
- 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.
- Being tested
- Biospecimen Collection, Laboratory Biomarker Analysis, Questionnaire Administration
- Medical subject headings
- Rhabdomyosarcoma, Alveolar, Rhabdomyosarcoma, Embryonal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Biospecimen CollectionProcedure or surgery
Undergo saliva or buccal mucosa collection
Laboratory Biomarker AnalysisOther
Correlative studies
Questionnaire AdministrationOther
Ancillary studies
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Procedure: Biospecimen Collection; Other: Laboratory Biomarker Analysis; Other: Questionnaire Administration |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: Up to 3 years
Secondary outcomes (1)
Deep phenotyping of children diagnosed with rhabdomyosarcoma utilizing questionnaires and medical record information
Analyses will be descriptive in nature.
Measured: Up to 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Sep 2017
- Study start23 Oct 2017
- Primary completion31 Dec 2022
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Alveolar RhabdomyosarcomaStudies of the same condition, open and under way.
- More trials run by Children's Oncology GroupThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 900 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Children's Oncology Group
- Sponsor type
- Research network
- Collaborators
- National Cancer Institute (NCI)
- Responsible party
- Sponsor
- Investigators
- Philip Lupo, Principal investigator, Children's Oncology Group
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03296371
- Sponsor's protocol ID
- AEPI15N1
- Other IDs
- NCI-2017-01665, AEPI15N1, AEPI15N1
- Status last verified
- Feb 2026
- First submitted
- 19 Sep 2017
- Last updated
- 6 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS)
- ClinicalTrials.gov ID
- NCT03296371
- Acronym / sponsor ID
- AEPI15N1
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 900 participants (estimated)
- Lead sponsor
- Children's Oncology GroupResearch network
- Collaborators
- National Cancer Institute (NCI)
- Study start
- 23 Oct 2017 (actual)
- Primary completion
- 31 Dec 2022 (actual)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 28 Sep 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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:
- 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.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Ancillary-Correlative (biospecimen collection) | – | Procedure: Biospecimen Collection, Other: Laboratory Biomarker Analysis, Other: Questionnaire AdministrationPatients 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. |
Who may qualify
- Ages
- Up to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Patients with embryonal or alveolar rhabdomyosarcoma enrolled on ACCRN07 and/or APEC14B1 and registered with Children's Oncology Group (COG)
Key inclusion criteria (8 listed)
- 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
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Biospecimen CollectionUndergo saliva or buccal mucosa collection | Procedure or surgery | Ancillary-Correlative (biospecimen collection) |
| Laboratory Biomarker AnalysisCorrelative studies | Other | Ancillary-Correlative (biospecimen collection) |
| Questionnaire AdministrationAncillary studies | Other | Ancillary-Correlative (biospecimen collection) |
Primary outcome
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.
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.
1 secondary outcome
Deep phenotyping of children diagnosed with rhabdomyosarcoma utilizing questionnaires and medical record information
Time frame: Up to 3 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Feb 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Philip Lupo principal investigator
Children's Oncology Group
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Alveolar Rhabdomyosarcoma and Embryonal Rhabdomyosarcoma, run by Children's Oncology Group at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 6 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Novel recurrent de novo germline mutation identification (time frame: Up to 3 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Feb 2026.