Clinical trial NCT03296371: Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From Patients With Embryonal or Alveolar Rhabdomyosarcoma
Official title: Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS)
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Alveolar Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma
Lead sponsor: Children's Oncology Group
Sponsor class: NETWORK
Collaborators: name: National Cancer Institute (NCI)
First posted: 2017-09-28
Enrollment: 900
Sex: ALL
Maximum age (years): 50
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with embryonal or alveolar rhabdomyosarcoma enrolled on ACCRN07 and/or APEC14B1 and registered with Children's Oncology Group (COG)

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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Novel recurrent de novo germline mutation identification
timeFrame: Up to 3 years
measure: Frequency of de novo germline mutations in cancer predisposition genes
timeFrame: Up to 3 years
Secondary outcomes:
measure: Deep phenotyping of children diagnosed with rhabdomyosarcoma utilizing questionnaires and medical record information
timeFrame: Up to 3 years
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: Childrens Oncology Group
state: Pennsylvania
Study officials:
affiliation: Children's Oncology Group
name: Philip Lupo
role: PRINCIPAL_INVESTIGATOR
References: