French National Study of Patients With PRSS1 Gene Mutations Tracking Hereditary Pancreatitis and Pancreatic Cancer Risk

What this Trial Is About

Researchers are studying hereditary pancreatitis HP, a rare condition caused by mutations in the PRSS1 gene or family history of chronic pancreatitis without other risk factors like alcohol use. This study aims to track patients with PRSS1 mutations to assess how often they develop pancreatic adenocarcinoma and to better understand the progression and outcomes of hereditary pancreatitis over time. The condition is rare and varies widely among affected families, with limited current scientific knowledge. Patients with PRSS1 mutations are identified through three French genetics laboratories and included by their current doctors. This observational study collects health data from medical records and administers questionnaires every five years during routine care visits. The cohort is updated as new patients are diagnosed, and data completeness is checked every five years. Participants are seen annually as part of their usual care, allowing researchers to gather ongoing medical information. The study measures the incidence of pancreatic adenocarcinoma over 20 years, tracks the natural history and clinical features of hereditary pancreatitis, evaluates risk factors for cancer progression, and assesses quality of life, especially pain impact. This long-term monitoring helps improve understanding of this rare genetic condition.

French National Cohort of Patients With PRSS1 Mutations