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
This trial does not accept healthy volunteersQualifiers
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 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.
Trial design
Design model
Cohort
Time perspective
Other
Treatments tested in this trial
collecting their health data from their medical file and completing questionnaires.
Other interventionPatients 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.
Treatment groups
No treatment groups listed
Trial outcomes
Primary outcomes
1
Evaluate the incidence of pancreatic adenocarcinoma
Occurrence of pancreatic adenocarcinoma
Time frame
20 yearsSecondary outcomes
1
Describe the natural history of hereditary pancreatitis linked to a PRSS1 mutation 1/2.
Occurrence of endocrine pancreatic insufficiency
Time frame
20 years2
Describe the natural history of hereditary pancreatitis linked to a PRSS1 mutation 2/2.
Occurrence of exocrine pancreatic insufficiency
Time frame
20 years3
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.
Occurrence of endocrine pancreatic insufficiency
Time frame
20 years4
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
Occurrence of exocrine pancreatic insufficiency
Time frame
20 yearsSponsors and contacts
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Source ClinicalTrials.gov