Registry of Subjects at Risk of Pancreatic Cancer (IRFARPC)

Italian Registry of Families At Risk of Pancreatic Cancer

IRFARPC is a multicenter national registry designed to study the diagnosis and predisposing factors of subjects with an inherited increased risk for pancreatic cancer.

Study Overview

• Status: Recruiting
• Conditions: Lynch Syndrome; BRCA1 Mutation; BRCA2 Mutation; Familial Pancreatic Cancer; Hereditary Pancreatitis; Peutz-Jeghers Syndrome; FAMMM - Familial Atypical Mole Malignant Melanoma Syndrome
• Intervention / Treatment: Radiation: MRCP; Procedure: Endoultrasonography

Detailed Description

Pancreatic cancer is a devastating disease with a dismal prognosis. One of the ways to improve survival might be early detection.

Within years, many predisposing diseases or genetic conditions have been identified, thus screening/surveillance have been established worldwide.

A registry of subjects at risk of pancreatic cancer will has been built up to investigate the possibility of diagnosis pancreatic cancer, or one if its predisposing lesions.

Inclusion criteria will be adopted as "enrollment criteria". According to this, individuals > 18 years old will be enrolled; their familiar history and/or genetic predisposition will be collected, as well as current or previous medical records/medications data. Thereafter, according to specific age-based criteria, those individuals initially enrolled will be will be considered for a "surveillance protocol" ("interventional follow-up criteria") and they will be submitted to Cholangio-Wirsung Magnetic Resonance or Pancreatic Endoultrasonography according to the pancreatologist's prescription at each participating center.

Individuals suffering from the following conditions will be enrolled:

familial pancreatic cancer; Peutz-Jeghers syndrome; a known BRCA-2, BRCA-1, PALB2, or p16 mutation with at least one first- or second-degree relative suffering from pancreatic cancer; hereditary pancreatitis; FAMMM syndrome; Lynch syndrome with at least one first- or second-degree relative suffering from pancreatic cancer.

• Study Type: Observational
• Enrollment (Anticipated): 1000

Contacts and Locations

• Study Contact: Name: Salvatore Paiella, MD, PhD; Phone Number: 00390458126009; Email: salvatore.paiella@univr.it
• Study Contact Backup: Name: Silvia Carrara, MD; Phone Number: + 39 02 82247288; Email: silvia.carrara@humanitas.it

Study Locations

• Italy
  • Milano, Italy
    • Recruiting
    • San Raffele Vita Salute University Hospital
    • Contact: Massimo Falconi, MD; Email: massimo.falconi@hsr.it
    • Principal Investigator: Gabriele Capurso, MD, PhD
    • Sub-Investigator: Silvia Smaniotto
  • Verona, Italy, 37134
    • Recruiting
    • Chirurgia Generale e del Pancreas
    • Principal Investigator: Claudio Bassi, MD
    • Principal Investigator: Roberto Salvia, MD, PhD
    • Contact: Erica Secchettin, PharmD; Phone Number: 00390458126254; Email: erica.secchettin@univr.it
    • Contact: Salvatore Paiella, MD, PhD; Phone Number: 00390458126009; Email: salvatore.paiella@univr.it
    • Principal Investigator: Salvatore Paiella, MD, PhD
    • Principal Investigator: Giuseppe Malleo, MD, PhD
    • Sub-Investigator: Erica Secchettin, PharmD
    • Sub-Investigator: Veronica Marinelli, PhD
  • Milan
    • Rozzano, Milan, Italy
      • Recruiting
      • Istituto Clinico Humanitas
      • Contact: Silvia Carrara, MD; Email: silvia.carrara@humanitas.it
      • Principal Investigator: Alessandro Zerbi, MD
      • Principal Investigator: Luigi Laghi, MD, PhD
      • Sub-Investigator: Laura Poliani, MD
      • Sub-Investigator: Valentina Giatti
  • Verona
    • Peschiera Del Garda, Verona, Italy
      • Recruiting
      • Ospedale Pederzoli
      • Contact: Giovanni Butturini, MD
      • Sub-Investigator: Alessandro Giardino, MD, PhD
      • Sub-Investigator: Isabella Frigerio, MD, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 80 years (Adult, Older Adult)
• Accepts Healthy Volunteers: N/A
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Subjects at high-risk of pancreatic cancer will be enrolled and a surveillance examination will be performed according to inclusion criteria.

Description

Inclusion Criteria to enter the registry:

• individuals with at least two relatives suffering from pancreatic cancer, with at least 1 first-degree and until the third-degree
• subjects with known genetic mutation of BRCA2, BRCA1, p16, PALB2 with at least 1 first- or 2nd-degree relative suffering from pancreatic cancer
• subjects suffering from FAMMM Syndrome
• subjects suffering from Peutz-Jeghers Syndrome
• subjects suffering from PRSS-1- or CFTR- or SPINK-1- related pancreatitis
• subjects suffering from Lynch syndrome with at least 1 first- or 2nd-degree relative suffering from pancreatic cancer

Inclusion criteria to join the "radiologic follow-up":

• 45 years or 10 years younger than the youngest index case of pancreatic cancer in the family for familial cases
• 40 years or 5 years younger than the youngest index case of pancreatic cancer for subjects suffering from hereditary/genetic pancreatitis, Lynch syndrome, or carrying a known BRCA 1/2, PALB2, p16 genetic mutation with familiarity for pancreatic cancer
• 30 years for subjects suffering from FAMMM, Peutz-Jeghers syndrome

Exclusion Criteria:

- pregnancy

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

6

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Familial pancreatic cancer relatives	Radiation: MRCP; Subjects fulfilling the "radiological follow-up criteria" will be submitted to MRCP or EUS according to the pancreatologist's prescription; Procedure: Endoultrasonography; Subjects fulfilling the "radiological follow-up criteria" will be submitted to MRCP or EUS according to the pancreatologist's prescription
Peutz-Jeghers syndrome	Radiation: MRCP; Subjects fulfilling the "radiological follow-up criteria" will be submitted to MRCP or EUS according to the pancreatologist's prescription; Procedure: Endoultrasonography; Subjects fulfilling the "radiological follow-up criteria" will be submitted to MRCP or EUS according to the pancreatologist's prescription
BRCA 1/2, PALB2, p16 mutations with familiarity for PC; Known genetic mutation and at least 1 1st- or 2nd-degree relative suffering from PC	Radiation: MRCP; Subjects fulfilling the "radiological follow-up criteria" will be submitted to MRCP or EUS according to the pancreatologist's prescription; Procedure: Endoultrasonography; Subjects fulfilling the "radiological follow-up criteria" will be submitted to MRCP or EUS according to the pancreatologist's prescription
Lynch syndrome with familiarity for pancreatic cancer	Radiation: MRCP; Subjects fulfilling the "radiological follow-up criteria" will be submitted to MRCP or EUS according to the pancreatologist's prescription; Procedure: Endoultrasonography; Subjects fulfilling the "radiological follow-up criteria" will be submitted to MRCP or EUS according to the pancreatologist's prescription
FAMMM syndrome	Radiation: MRCP; Subjects fulfilling the "radiological follow-up criteria" will be submitted to MRCP or EUS according to the pancreatologist's prescription; Procedure: Endoultrasonography; Subjects fulfilling the "radiological follow-up criteria" will be submitted to MRCP or EUS according to the pancreatologist's prescription
Hereditary and genetic pancreatitis	Radiation: MRCP; Subjects fulfilling the "radiological follow-up criteria" will be submitted to MRCP or EUS according to the pancreatologist's prescription; Procedure: Endoultrasonography; Subjects fulfilling the "radiological follow-up criteria" will be submitted to MRCP or EUS according to the pancreatologist's prescription

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
This clinical study will assess the diagnostic yield of a clinical surveillance program for pancreatic neoplasia or predisposing conditions (PanIN, IPMNs) in high risk individuals	Number of malignant and pre-malignant lesions diagnosed over time	25 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
This study will investigate possible risk factors for the incidence or the progression of for pancreatic neoplasia or predisposing conditions (PanIN, IPMNs) in high risk individuals	Identification of risk factors for malignant or pre-malignant lesions diagnosis	25 years

Other Outcome Measures

Outcome Measure	Time Frame
The psychological burden of a surveillance program for pancreatic cancer will be assessed	10 years

Collaborators and Investigators

• Sponsor: Associazione Italiana per lo Studio del Pancreas

Publications and helpful links

General Publications

• Paiella S, Capurso G, Cavestro GM, Butturini G, Pezzilli R, Salvia R, Signoretti M, Crippa S, Carrara S, Frigerio I, Bassi C, Falconi M, Iannicelli E, Giardino A, Mannucci A, Laghi A, Laghi L, Frulloni L, Zerbi A. Results of First-Round of Surveillance in Individuals at High-Risk of Pancreatic Cancer from the AISP (Italian Association for the Study of the Pancreas) Registry. Am J Gastroenterol. 2019 Apr;114(4):665-670. doi: 10.1038/s41395-018-0414-z.

Study record dates

Study Major Dates

• Study Start (Actual): August 20, 2019
• Primary Completion (Anticipated): August 20, 2044
• Study Completion (Anticipated): September 20, 2045

Study Registration Dates

• First Submitted: September 17, 2019
• First Submitted That Met QC Criteria: September 17, 2019
• First Posted (Actual): September 19, 2019

Study Record Updates

• Last Update Posted (Actual): January 13, 2023
• Last Update Submitted That Met QC Criteria: January 12, 2023
• Last Verified: January 1, 2023

More Information

Terms related to this study

• Keywords: Lynch Syndrome; Familial Pancreatic Cancer; BRCA Mutation; Screening pancreatic cancer; Surveillance pancreatic cancer
• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Metabolic Diseases; Skin Diseases; Neoplasms by Histologic Type; Neoplasms; Neoplasms by Site; Endocrine System Diseases; Disease; Gastrointestinal Neoplasms; Digestive System Neoplasms; Gastrointestinal Diseases; Endocrine Gland Neoplasms; Genetic Diseases, Inborn; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms, Nerve Tissue; Colonic Diseases; Intestinal Diseases; Intestinal Neoplasms; Colorectal Neoplasms; Neoplastic Syndromes, Hereditary; DNA Repair-Deficiency Disorders; Pancreatic Diseases; Neuroendocrine Tumors; Nevi and Melanomas; Intestinal Polyposis; Hyperpigmentation; Pigmentation Disorders; Melanosis; Lentigo; Nevus; Syndrome; Colorectal Neoplasms, Hereditary Nonpolyposis; Pancreatic Neoplasms; Melanoma; Pancreatitis; Pancreatitis, Chronic; Peutz-Jeghers Syndrome; Dysplastic Nevus Syndrome
• Other Study ID Numbers: IRFARPC

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No