Immunological Phenotype of Desmoid-fibromatosis-affected Patients.

NCT07496242 | Recruiting

• 1 other identifier: INT 90/18
• Study Type: observational
• Target: 200
• Locations: 2 countries
• Sites: 8

Brief Summary

This observational study aims to characterize the molecular, phenotypic, and functional inflammatory and immunological profile of patients with sporadic desmoid-type fibromatosis undergoing either active surveillance or systemic therapy. The study includes analysis of the tumor immune microenvironment (TIME), circulating immune and inflammatory molecules, immune cell subsets, and circulating tumor DNA (ctDNA). The goal is to identify biomarkers associated with spontaneous or treatment-induced tumor regression and to evaluate potential correlations with specific ß-catenin mutations.

Conditions

Desmoid-Type Fibromatosis

Outcome Measures

Primary Outcomes (4)

• Levels of circulating tumor DNA (ctDNA)

  Quantification of circulating tumor DNA levels in peripheral blood samples to evaluate their association with the clinical course of the disease (stable disease, spontaneous regression, or progression according to RECIST criteria).

  Baseline and every 3 months during the first year, then every 6 months up to 36 months.

• Phenotypic profile of circulating immune cells

  Characterization of circulating immune cell subsets in peripheral blood samples using immunophenotyping assays.

  Baseline and every 3 months during the first year, then every 6 months up to 36 months.

• Tumor immune microenvironment characteristics

  Assessment of immune cell infiltration and inflammatory markers in available tumor biopsy samples to characterize the tumor immune microenvironment.

  Baseline.

• Clinical disease course

  Clinical disease course assessed as stable disease, spontaneous regression, or progression according to RECIST criteria.

  From baseline up to 36 months.

Study Arms (2)

Patients under active surveillance

Patients with primary sporadic desmoid-type fibromatosis with measurable disease

Patients receiving systemic treatment

Patients with primary sporadic desmoid-type fibromatosis with measurable disease.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

* Patients with primary sporadic desmoid-type fibromatosis with measurable disease under active surveillance * Patients with primary sporadic desmoid-type fibromatosis with measurable disease receiving systemic treatment.

You may qualify if:

• Patients with primary sporadic desmoid-type fibromatosis with measurable disease under active surveillance
• Patients with primary sporadic desmoid-type fibromatosis with measurable disease receiving systemic treatment.

Sponsors & Collaborators

• Fondazione IRCCS Istituto Nazionale dei Tumori, Milano: lead
• Campus Biomedico - Roma: collaborator
• Candiolo Cancer Institute - IRCCS: collaborator
• Azienda Ospedaliero-Universitaria Careggi: collaborator
• Azienda USL Toscana Centro: collaborator
• Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone Palermo: collaborator
• Erasmus University Rotterdam: collaborator
• Istituto Oncologico Veneto IRCCS: collaborator

Study Sites (8)

IRCCS Istituto di Candiolo Fondazione del Piemonte per l'Oncologia

Candiolo, Italy

NOT YET RECRUITING

Azienda Ospedaliero Universitaria Careggi

Florence, Italy

NOT YET RECRUITING

Azienda Usl Toscana centro

Florence, Italy

NOT YET RECRUITING

Fondazione IRCCS Istituto Nazionale dei Tumori

Milan, 20133, Italy

RECRUITING

IRCCS Istituto Oncologico Veneto IOV

Padua, Italy

NOT YET RECRUITING

Azienda Ospedaliera Universitaria Policlinico "Paolo Giaccone"

Palermo, Italy

NOT YET RECRUITING

Università Campus Bio-Medico

Rome, Italy

NOT YET RECRUITING

Erasmus University Medical Centre

Rotterdam, Netherlands

NOT YET RECRUITING

MeSH Terms

Conditions

Desmoid Tumors

Condition Hierarchy (Ancestors)

Fibroma; Neoplasms, Fibrous Tissue; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms

Study Officials

• Chiara Colombo, MD, Surgical Oncologist

  Fondazione IRCCS Istituto Nazionale dei Tumori di Milano

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Chiara Colombo, MD, Surgical Oncologist

CONTACT

+390223902740; chiara.colombo@istitutotumori.mi.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 9, 2025
• First Posted: March 27, 2026
• Study Start: May 27, 2025
• Primary Completion (Estimated): August 31, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: March 27, 2026

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will share

Locations

NL (1); IT (7)