Genomic Profiles Analysis in Children, Adolescents and Young Adult With Sarcomas

Genomic Profiles Analysis in Children, Adolescents and Young Adult With Sarcomas (SAR-GEN_ITA): a Multicenter Prospective Study

Bone and soft tissue sarcomas represent about 7-12% of all pediatric cancer and are a heterogeneous group of tumors arising in connective tissues embryologically derived from the mesenchyme. For some of these tumors relapse and mortality rates are still significantly high. Therefore, further studies are needed to better understand pathogenetic processes underlying sarcomas to offer new and more effective treatments. Next generation sequencing (NGS) has opened new frontiers for cancer research allowing to identify somatic or constitutional mutations known or yet unknown with the aim to better understand carcinogenesis. The establishment of the genomic profile of the tumor could also help clinicians to personalize patients treatment based on their genetic and molecular alterations.

Study Overview

• Status: Recruiting
• Conditions: Diagnosed or Relapsed/Refractory Sarcomas
• Intervention / Treatment: Other: observation and biopsy

• Study Type: Observational
• Enrollment (Anticipated): 120

Contacts and Locations

Study Locations

• Italy
  • Bologna, Italy
    • Recruiting
    • Policlinico S.Orsola-Malpighi
  • Bologna, Italy
    • Recruiting
    • Istituto Ortopedico Rizzoli
  • Firenze, Italy
    • Recruiting
    • Azienda Ospedaliero-Universitaria Meyer
  • Genova, Italy
    • Recruiting
    • Istituto Giannina Gaslini
  • Milan, Italy
    • Recruiting
    • Istituto Nazionale Tumori
  • Milan, Italy
    • Suspended
    • Presidio Ospedaliero Gaetano Pini | ASST Pini-CTO
  • Pavia, Italy
    • Recruiting
    • Fondazione I.R.C.C.S. Policlinico San Matteo
  • Roma, Italy
    • Active, not recruiting
    • Istituti fisioterapici Ospitalieri - Istituto Tumori Regina Elena e Istituto Dermatologico San Gallicano
  • Trieste, Italy
    • Recruiting
    • IRCCS Materno Infantile Burlo Garofolo
  • Turin
    • Torino, Turin, Italy, 10126
      • Recruiting
      • AOU Città della Salute e della Scienza di Torino - Presidio Infantile Regina Margherita

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 24 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Children, adolescents and young adults aged ≤ 24 years with newly diagnosed or relapsed/refractory Osteosarcoma, Ewing Sarcoma or Synovial Sarcoma.

Description

Inclusion Criteria:

1. Patients with histologically confirmed Osteosarcoma, Ewing Sarcoma or Synovial Sarcoma at first diagnosis.
2. Patients with confirmed relapsed/refractory Osteosarcoma, Ewing Sarcoma or Synovial Sarcoma
3. Written informed consent signed by the patient, or parents or legal representative to perform molecular analysis of the tumor sample.
4. Patients aged ≤24 years
5. Pathological review of tumor samples.
6. Availability of fresh tumor sample from newly diagnosed or relapsed/refractory cancer and 10 ml of EDTA peripheral blood sample. Centralization of paraffin-embedded tumor sample might be optional.

Exclusion Criteria:

• 1. Known history of active HIV, HCV, or HBV infection 2. Presence of a condition or abnormality that in the opinion of the Investigator would compromise the safety of the patient undergoing surgery biopsy or the quality of the data.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
evaluate the genomic profiles of osteosarcoma, Ewing sarcoma and Synovial Sarcoma tumor samples in pediatric, adolescents and young adult patients at the time of diagnosis or relapse/progression	2018-2021

Collaborators and Investigators

• Sponsor: Azienda Ospedaliera Ospedale Infantile Regina Margherita Sant'Anna
• Collaborators: Associazione Italiana Ematologia Oncologia Pediatrica

Study record dates

Study Major Dates

• Study Start (Actual): December 6, 2018
• Primary Completion (Anticipated): December 6, 2024
• Study Completion (Anticipated): December 6, 2026

Study Registration Dates

• First Submitted: November 3, 2020
• First Submitted That Met QC Criteria: November 3, 2020
• First Posted (Actual): November 9, 2020

Study Record Updates

• Last Update Posted (Actual): March 29, 2023
• Last Update Submitted That Met QC Criteria: March 28, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Sarcoma
• Other Study ID Numbers: SAR-GEN_ITA

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No