French National Cohort of Patients With PRSS1 Mutations

NCT07413029 | Recruiting

• 2 other identifiers: APHP2409882024-A01666-41
• Study Type: observational
• Target: 800
• Locations: 1 country
• Sites: 1

Brief Summary

The diagnosis of hereditary pancreatitis (PH) is based on a genetic criterion - detection of a mutation in the PRSS1 gene or on a genealogical criterion - the presence of chronic pancreatitis in at least 2 first-degree relatives or at least 3 relatives in the second degree, in the absence of other identified predisposing factors (notably chronic alcohol consumption). It is now recommended to seek PH in cases of pancreatitis of unknown origin in a young patient or with a family history. In this study, patients carrying a PRSS1 mutation will be identified from the patient lists of the three French genetics laboratories (Brest University Hospital, Cochin-Paris University Hospital, Lille University Hospital) carrying out PRSS1 gene analysis. Patients will be included by the doctors currently treating them. The aim of the study is to assess the incidence of pancreatic adenocarcinoma in the cohort and describe the natural history of hereditary pancreatitis linked to a mutation in PRSS1.

Conditions

Hereditary Pancreatitis; PRSS1 Gene Mutation

Keywords

hereditary pancreatitis, mutation

Outcome Measures

Primary Outcomes (1)

• Evaluate the incidence of pancreatic adenocarcinoma

  Occurrence of pancreatic adenocarcinoma

  20 years

Secondary Outcomes (16)

• Describe the natural history of hereditary pancreatitis linked to a PRSS1 mutation 1/2.

  20 years

• Describe the natural history of hereditary pancreatitis linked to a PRSS1 mutation 2/2.

  20 years

• incidence of pancreatic adenocarcinoma in carriers of a PRSS1 mutation to the incidence of pancreatic cancer in the general population in France, estimated from French and international digestive cancer registers 1/2.

  20 years

• incidence of pancreatic adenocarcinoma in carriers of a PRSS1 mutation to the incidence of pancreatic cancer in the general population in France, estimated from French and international digestive cancer registers.2/2

  20 years

• Risk factors associated with progression to adenocarcinoma 1/2

  20 years

Interventions

collecting their health data from their medical file and completing questionnaires. OTHER

Patients seen as part of their follow-up will be offered to participate in the study. Their participation will consist of collecting their health data from their medical file and completing questionnaires.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Any patient, symptomatic or not, carrying a PRSS1 mutation detected in one of the 3 genetic laboratories carrying out this targeted genetic analysis in France. Children may be included in this study with the consent of their parents. People under guardianship or curatorship may also be included with the agreement of their guardian or curator.

You may qualify if:

• Being a carrier of a known genetic mutation in the PRSS1 gene coding for cationic trypsinogen
• Be followed in one of the participating centers

You may not qualify if:

• Opposition to data collection, expressed by the patient or one of their legal representatives

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

REBOURS

Clichy-sous-Bois, France

RECRUITING

MeSH Terms

Conditions

Hereditary pancreatitis

Study Officials

• Vinciane REBOURS

  APHP

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Vinciane REBOURS

CONTACT

+33 1 40 87 52 15; vinciane.rebours@aphp.fr

Claude FEREC

CONTACT

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 2, 2026
• First Posted: February 17, 2026
• Study Start: November 10, 2024
• Primary Completion (Estimated): November 30, 2044
• Study Completion (Estimated): December 31, 2044
• Last Updated: February 17, 2026

Record last verified: 2026-01

Locations

FR (1)