New national registry aims to improve care for rare genetic polyposis syndromes

NCT ID NCT07461246

Knowledge-focused Sponsor: Fondazione IRCCS Istituto Nazionale dei Tumori, Milano Source: ClinicalTrials.gov ↗

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study is a national registry collecting data from 1500 people with familial adenomatous polyposis (FAP) and related conditions across 28 Italian centers. It aims to better understand how these diseases progress, how they are currently managed, and what factors influence outcomes. No new treatments are being tested; instead, the registry will help improve future care guidelines and support research.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to: If successful, this registry could provide better guidelines for managing polyposis syndromes and improve early detection and treatment strategies.
What could go wrong: This is an observational study, not a clinical trial testing a new treatment. It collects data only, so no direct benefit to participants is expected.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 1,500 people

The number the study aims to enrol. It can still change while the study runs.

Started

May 2024

Expected to finish

Dec 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Patients will be categorized into cohorts based on genetic and phenotypic characteristics. The FAP Classic Phenotype cohort includes patients with pathogenic APC variants presenting with more than 100 colorectal adenomas and classic extracolonic manifestations. The AFAP Attenuated Phenotype cohort comprises patients with pathogenic APC variants presenting with 10-99 colorectal adenomas and later age of onset. The MAP cohort consists of patients with biallelic MUTYH pathogenic variants presenting with 10 to a few hundred polyps of adenomatous, hyperplastic, or serrated histology. The NAMP cohort includes patients without identified APC or MUTYH variants, which may include variants in POLE, POLD1, NTHL1, MSH3, GREM1, or cases with no identified genetic defect. Additional clinical variants include Gardner Syndrome (FAP with desmoid tumors, fibromas, cysts, osteomas) and Turcot Syndrome (FAP with CNS neoplasms, particularly medulloblastoma).

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * patients with documented colorectal polyposis (\>10 synchronous adenomas or ≥20 adenomas across multiple colonoscopies); * patients who have undergone genetic testing with the following results: a pathogenic variant (PV) in APC (FAP); biallelic pathogenic variants in MUTYH (MAP); other pathogenic variants identified in genes such as POLE, POLD1, NTHL1, MSH3, and GREM1; * patients in whom no pathogenic variants have been identified in known genes (NAMP); * histologically, the majority of polyps must be adenomas. Exclusion Criteria: * Patients with polyposis syndromes of different etiology not meeting the above inclusion criteria, such as Peutz-Jeghers syndrome, Juvenile polyposis syndrome, Serrated polyposis syndrome, or Cowden syndrome. * Patients whose polyp burden does not meet the specified thresholds or whose polyps are predominantly non-adenomatous (hyperplastic, serrated, hamartomatous). * Patients who refuse to provide informed consent.

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Conditions

The condition(s) this trial relates to.

Adenomatous Polyposis Coli attenuated familial adenomatous polyposis classic familial adenomatous polyposis colorectal cancer colorectal neoplasm desmoid tumor duodenal villous adenoma familial adenomatous polyposis 2 familial colorectal cancer Gardner syndrome hereditary mixed polyposis syndrome hereditary neoplastic syndrome intestinal polyposis syndrome mismatch repair cancer syndrome 1 stomach polyp

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Attenuated familial adenomatous polyposis (AFAP) Colorectal cancer Desmoid tumor Desmoid-type fibromatosis Duodenal adenoma Familial adenomatous polyposis (FAP) Gardner syndrome Hereditary colorectal cancer syndrome Hereditary polyposis syndrome Mutyh-associated polyposis (MAP) Non-APC/mutyh associated polyposis (NAMP) Turcot syndrome Upper gastrointestinal polyposis

New national registry aims to improve care for rare genetic polyposis syndromes

What the study statuses mean