Rete Italiana Poliposi Adenomatosa Familiare (RIPAF)
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 1,500
- 试验地点
- 1
- 主要终点
- Natural History Characterization
研究概览
简要总结
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.
详细描述
RIPAF is a nationwide, multicenter, observational registry developed to address the current heterogeneity in the management of Familial Adenomatous Polyposis and related hereditary adenomatous polyposis syndromes in Italy. Although several specialized centers provide care for these patients, clinical practice varies in terms of genetic workup, surveillance protocols, timing and type of prophylactic surgery, and management of extracolonic manifestations. This fragmentation limits the possibility of conducting large-scale analyses and generating robust multicenter evidence.
The registry is designed to create a structured collaborative framework that integrates expertise from 28 participating institutions, enabling standardized data collection and long-term follow-up.
Study Population:
Eligible participants include pediatric and adult patients diagnosed with adenomatous colorectal polyposis, defined as more than 10 synchronous adenomas or at least 20 cumulative adenomas across colonoscopies. The registry encompasses:
APC-associated familial adenomatous polyposis (classic phenotype with >100 adenomas and attenuated phenotype with 10-99 adenomas); MUTYH-associated polyposis (biallelic pathogenic variants); Adenomatous polyposis associated with other susceptibility genes (e.g., POLE, POLD1, NTHL1, MSH3, GREM1); Polyposis cases without identified pathogenic variants (NAMP), provided adenomas represent the predominant histological type.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
Natural History Characterization
时间窗: 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
时间窗: 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.
次要结局
- Overall Survival(Up to 36 months and extended long-term follow-up)
- Cancer-Specific Survival(Up to 36 months and extended long-term follow-up)
- Desmoid Tumor Outcomes(Up to 36 months and extended long-term follow-up)
- Surgical Outcomes(Up to 36 months and extended long-term follow-up)
- Surgical approach Outcomes(Up to 36 months and extended long-term follow-up)
- Surgical oncological outcomes(Up to 36 months and extended long-term follow-up)
- APC Genotype-Phenotype Correlation Analysis(Up to 36 months and extended long-term follow-up)
- MUTYH Genotype-Phenotype Correlation Analysis(Up to 36 months and extended long-term follow-up)