Familial Adenomatous Poliposys Italian Network (Rete Italiana Poliposi Adenomatosa Familiare)

Condition(s) studied

Study summary

RIPAF (Rete Italiana Poliposi Adenomatosa Familiare) is a national, multicenter observational registry designed to establish a coordinated Italian network for the management of Familial Adenomatous Polyposis (FAP) and related adenomatous polyposis syndromes. The registry includes patients with APC-related FAP (classic and attenuated forms), MUTYH-associated polyposis (MAP), and adenomatous polyposis not associated with APC or MUTYH mutations (NAMP), including cases linked to other susceptibility genes or without identified pathogenic variants.

The study combines retrospective and prospective data collection across 28 Italian centers. Its primary purpose is to generate standardized, large-scale clinical data to better characterize disease presentation and evolution, evaluate current surveillance and surgical strategies, and assess oncological outcomes and quality-of-care indicators in real-world practice.

The registry will collect detailed information on genotype-phenotype correlations, colorectal and upper gastrointestinal cancer incidence, desmoid tumor development, timing and type of prophylactic surgery, postoperative outcomes, and long-term survival. Additional objectives include evaluating adherence to surveillance guidelines, timing of genetic diagnosis, and preventive surgical uptake among at-risk relatives.

By harmonizing data collection and promoting collaboration among referral centers, RIPAF aims to reduce variability in clinical management across Italy, improve risk stratification and decision-making, and create a national platform to support future multicenter research initiatives and international collaborations in hereditary colorectal cancer syndromes.

Eligibility

Primary outcome measure(s)

• Natural History Characterization — Throughout study period, up to 36 months and extended follow-up
  This includes comprehensive analysis of genotype-phenotype correlations, age at diagnosis, polyp burden at diagnosis and over time, colorectal cancer incidence, and prevalence and timing of extracolonic manifestations across all polyposis subtypes.
• Quality of Care Indicators — Throughout study period, up to 36 months
  This encompasses measurement of time intervals from symptom onset to genetic diagnosis, adherence to surveillance colonoscopy and upper endoscopy protocols, time from diagnosis to prophylactic surgery in appropriate candidates, and rate of prophylactic surgery uptake in at-risk family members.

Trial sites (1)

More Fondazione IRCCS Istituto Nazionale dei Tumori, Milano trials in Italy

Other trials for the same condition