French National Cohort of Patients With PRSS1 Mutations

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorAssistance Publique - Hôpitaux de Paris

About this trial

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.

Eligibility criteria

Qualifiers

Being a carrier of a known genetic mutation in the PRSS1 gene coding for cationic trypsinogen

Be followed in one of the participating centers

Disqualifiers

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

Trial design

Treatments tested in this trial

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

Treatment groups

No treatment groups listed