The following info and data is provided "as is" to help patients around the globe.
We do not endorse or review these studies in any way.
Brief Title: 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 ID: 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.
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.
Minimum Age:
Eligible Ages: CHILD, ADULT
Sex: ALL
Healthy Volunteers: No
Childrens Oncology Group, Philadelphia, Pennsylvania, United States
Name: Philip Lupo
Affiliation: Children's Oncology Group
Role: PRINCIPAL_INVESTIGATOR