Immunological Phenotype of Desmoid-fibromatosis-affected Patients.

March 23, 2026 updated by: Fondazione IRCCS Istituto Nazionale dei Tumori, Milano

Immunological Profile of Patients With Desmoid-type Fibromatosis Under Active Surveillance.

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.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Italy
      • Candiolo, Italy
        • Not yet recruiting
        • IRCCS Istituto di Candiolo Fondazione del Piemonte per l'Oncologia
        • Principal Investigator:
          • Giovanni Grignani, MD
        • Contact:
      • Florence, Italy
        • Not yet recruiting
        • Azienda Ospedaliero Universitaria Careggi
        • Contact:
        • Principal Investigator:
          • Domenico Campanacci, MD
      • Florence, Italy
      • Milan, Italy, 20133
        • Recruiting
        • Fondazione IRCCS Istituto Nazionale dei Tumori
        • Contact:
        • Principal Investigator:
          • Chiara Colombo, MD, Surgical Oncologist
      • Padua, Italy
        • Not yet recruiting
        • IRCCS Istituto Oncologico Veneto IOV
        • Principal Investigator:
          • Antonella Brunello, MD
        • Contact:
      • Palermo, Italy
        • Not yet recruiting
        • Azienda Ospedaliera Universitaria Policlinico "Paolo Giaccone"
        • Principal Investigator:
          • Giuseppe Badalamenti, MD
        • Contact:
      • Rome, Italy
        • Not yet recruiting
        • Università Campus Bio-Medico
        • Principal Investigator:
          • Bruno Vincenzi, MD
        • Contact:
  • Netherlands
      • Rotterdam, Netherlands
        • Not yet recruiting
        • Erasmus University Medical Centre
        • Contact:
        • Principal Investigator:
          • Stefanie Hakkesteegt, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

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.

Description

Inclusion Criteria:

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Levels of circulating tumor DNA (ctDNA)
Time Frame: Baseline and every 3 months during the first year, then every 6 months up to 36 months.
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
Time Frame: Baseline and every 3 months during the first year, then every 6 months up to 36 months.
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
Time Frame: Baseline.
Assessment of immune cell infiltration and inflammatory markers in available tumor biopsy samples to characterize the tumor immune microenvironment.
Baseline.
Clinical disease course
Time Frame: From baseline up to 36 months.
Clinical disease course assessed as stable disease, spontaneous regression, or progression according to RECIST criteria.
From baseline up to 36 months.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fondazione IRCCS Istituto Nazionale dei Tumori, Milano

Collaborators

Istituto Oncologico Veneto IRCCS
Erasmus University Rotterdam
Azienda Ospedaliero-Universitaria Careggi
Candiolo Cancer Institute - IRCCS
Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone Palermo
Azienda USL Toscana Centro
Campus Biomedico - Roma

Investigators

  • Principal Investigator: Chiara Colombo, MD, Surgical Oncologist, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 27, 2025

Primary Completion (Estimated)

August 31, 2026

Study Completion (Estimated)

December 1, 2026

Study Registration Dates

First Submitted

December 9, 2025

First Submitted That Met QC Criteria

March 23, 2026

First Posted (Actual)

March 27, 2026

Study Record Updates

Last Update Posted (Actual)

March 27, 2026

Last Update Submitted That Met QC Criteria

March 23, 2026

Last Verified

September 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • INT 90/18

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Aggregated clinical and molecular data generated from the study will be shared in scientific publications and presentations. These aggregated data will be made available after the publication of the main study results. Aggregated data will become available after publication of the primary results after the end of the study. Aggregated data will be available to researchers and clinicians through scientific publications and conference communications for scientific, educational, and research purposes, including further understanding of desmoid-type fibromatosis biology and clinical behavior. Data will be shared through peer-reviewed publications, conference presentations, and other scientific dissemination channels.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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