Hereditary PancreatitisPARADISIO 1NCT07413029
French National Cohort of Patients With PRSS1 Mutations
An observational study of Hereditary Pancreatitis and PRSS1 Gene Mutation, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hereditary Pancreatitis, PRSS1 Gene Mutation
- What is being tested?
- collecting their health data from their medical file and completing questionnaires.
- How many people
- 800 participants
- Where
- 1 siteFrance
- Study dates
- 10 Nov 2024to 31 Dec 2044
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- Being a carrier of a known genetic mutation in the PRSS1 gene coding for cationic trypsinogen
- Be followed in one of the participating centers
Who cannot join
- Opposition to data collection, expressed by the patient or one of their legal representatives
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Claude FEREC contact
France1 site, 1 recruiting
- Recruiting
REBOURS
Clichy-sous-Bois
REBOURS Vinciane, 140875215 ext. 33, vinciane.rebours@aphp.fr
About this study
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.
Read the detailed description
The diagnosis of hereditary pancreatitis (HP) is based on a genetic criterion - identification of a mutation in the PRSS1 gene - or a genealogical criterion - the presence of chronic pancreatitis in at least 2 first-degree relatives or at least 3 second-degree relatives, in the absence of other identified predisposing factors (in particular chronic alcohol consumption). It is now recommended to look for PH in cases of pancreatitis of unknown origin in young patients or those with a family history.
The first mutation in the PRSS1 gene, R122H, was described in 1996. Today, >100 PRSS1 variants are known. Of these, 26 variants are considered 'pathological' and 51 'benign', with the other variants having a less well-defined clinical outcome. PH is a rare cause of pancreatitis (< 1%). Its prevalence in France is estimated at 0.3/100,000 people.
Because of its rarity, there are few studies to decipher this disease. Fewer than 1,000 patients are affected in France. In practice, there is great variability in the phenotypic expression of mutations, even for a similar mutation in the same family. There is a lack of scientific knowledge, which means that patients with PH cannot be treated optimally.
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 cohort will be updated as new patients are diagnosed, and the completeness of the cases recorded in the database will be checked every 5 years. Patients are seen annually as part of their care, so medical data can be collected at each visit. Questionnaires will be administered every 5 years during a care visit.
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
- Being tested
- collecting their health data from their medical file and completing questionnaires.
- Keywords
- hereditary pancreatitis, mutation
- Medical subject headings
- Hereditary pancreatitis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluate the incidence of pancreatic adenocarcinoma
Occurrence of pancreatic adenocarcinoma
Measured: 20 years
Secondary outcomes (16)
Describe the natural history of hereditary pancreatitis linked to a PRSS1 mutation 1/2.
Occurrence of endocrine pancreatic insufficiency
Measured: 20 years
Describe the natural history of hereditary pancreatitis linked to a PRSS1 mutation 2/2.
Occurrence of exocrine pancreatic insufficiency
Measured: 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.
Occurrence of endocrine pancreatic insufficiency
Measured: 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
Occurrence of exocrine pancreatic insufficiency
Measured: 20 years
Risk factors associated with progression to adenocarcinoma 1/2
type of PRSS1 mutation.
Measured: 20 years
Risk factors associated with progression to adenocarcinoma 2/2
comorbidity
Measured: 20 years
Clinical phenotype of patients
Collection of clinical characteristics (phenotype) of patients with hereditary pancreatitis.
Measured: 20 years
Establish a phenotype-genotype correlation:
Assessment of the association between identified genetic mutations and clinical phenotype
Measured: 20 years
Calculate the crude and cumulative incidence of exocrine and endocrine pancreatic insufficiency.
Occurrence of endocrine pancreatic insufficiency
Measured: 20 years
Calculate the crude and cumulative incidence of exocrine and endocrine pancreatic insufficiency.
Occurrence of exocrine pancreatic insufficiency
Measured: 20 years
Evaluate the quality of life of patients with hereditary pancreatitis
Assessment of patients' quality of life using quality of life questionnaires: SF-36 a
Measured: 20 years
Evaluate the quality of life of patients with hereditary pancreatitis
Pain assessment: Izbicki Pain Score
Measured: 20 years
Evaluate the quality of life of patients with hereditary pancreatitis
Pain assessment: COMPAT-SF Questionnaire
Measured: 20 years
Evaluate the quality of life of patients with hereditary pancreatitis, particularly the impact of pain.
Pain assessment: Izbicki Pain Score
Measured: 20 years
Evaluate the quality of life of patients with hereditary pancreatitis, particularly the impact of pain.
Pain assessment: COMPAT-SF Questionnaire
Measured: 20 years
Evaluate the quality of life of patients with hereditary pancreatitis, particularly the impact of pain.
Assessment of patients' quality of life using quality of life questionnaires: EQ-5D
Measured: 20 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Feb 2026
- Study start10 Nov 2024
- Primary completion30 Nov 2044 (estimated)
- Study completion31 Dec 2044 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary PancreatitisStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 800 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Vinciane REBOURS, Principal investigator, APHP
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07413029
- Sponsor's protocol ID
- APHP240988
- Other IDs
- 2024-A01666-41
- Acronym
- PARADISIO 1
- Status last verified
- Jan 2026
- First submitted
- 2 Feb 2026
- Last updated
- 17 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 17 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- French National Cohort of Patients With PRSS1 Mutations
- ClinicalTrials.gov ID
- NCT07413029
- Acronym / sponsor ID
- PARADISIO 1 / APHP240988
- Conditions
- Hereditary Pancreatitis, PRSS1 Gene Mutation
- Keywords
- hereditary pancreatitis, mutation
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 800 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 10 Nov 2024 (actual)
- Primary completion
- 30 Nov 2044 (estimated)
- Study completion
- 31 Dec 2044 (estimated)
- First posted
- 17 Feb 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
The diagnosis of hereditary pancreatitis (HP) is based on a genetic criterion - identification of a mutation in the PRSS1 gene - or a genealogical criterion - the presence of chronic pancreatitis in at least 2 first-degree relatives or at least 3 second-degree relatives, in the absence of other identified predisposing factors (in particular chronic alcohol consumption). It is now recommended to look for PH in cases of pancreatitis of unknown origin in young patients or those with a family history.
The first mutation in the PRSS1 gene, R122H, was described in 1996. Today, >100 PRSS1 variants are known. Of these, 26 variants are considered 'pathological' and 51 'benign', with the other variants having a less well-defined clinical outcome. PH is a rare cause of pancreatitis (< 1%). Its prevalence in France is estimated at 0.3/100,000 people.
Because of its rarity, there are few studies to decipher this disease. Fewer than 1,000 patients are affected in France. In practice, there is great variability in the phenotypic expression of mutations, even for a similar mutation in the same family. There is a lack of scientific knowledge, which means that patients with PH cannot be treated optimally.
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 cohort will be updated as new patients are diagnosed, and the completeness of the cases recorded in the database will be checked every 5 years. Patients are seen annually as part of their care, so medical data can be collected at each visit. Questionnaires will be administered every 5 years during a care visit.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- Being a carrier of a known genetic mutation in the PRSS1 gene coding for cationic trypsinogen
- Be followed in one of the participating centers
Key exclusion criteria (1 listed)
- Opposition to data collection, expressed by the patient or one of their legal representatives
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| collecting their health data from their medical file and completing questionnaires.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. | Other | – |
Primary outcome
Evaluate the incidence of pancreatic adenocarcinoma
Time frame: 20 years
Occurrence of pancreatic adenocarcinoma
16 secondary outcomes
Describe the natural history of hereditary pancreatitis linked to a PRSS1 mutation 1/2.
Time frame: 20 years
Describe the natural history of hereditary pancreatitis linked to a PRSS1 mutation 2/2.
Time frame: 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.
Time frame: 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
Time frame: 20 years
Risk factors associated with progression to adenocarcinoma 1/2
Time frame: 20 years
Risk factors associated with progression to adenocarcinoma 2/2
Time frame: 20 years
Clinical phenotype of patients
Time frame: 20 years
Establish a phenotype-genotype correlation:
Time frame: 20 years
Calculate the crude and cumulative incidence of exocrine and endocrine pancreatic insufficiency.
Time frame: 20 years
Calculate the crude and cumulative incidence of exocrine and endocrine pancreatic insufficiency.
Time frame: 20 years
Evaluate the quality of life of patients with hereditary pancreatitis
Time frame: 20 years
Evaluate the quality of life of patients with hereditary pancreatitis
Time frame: 20 years
Evaluate the quality of life of patients with hereditary pancreatitis
Time frame: 20 years
Evaluate the quality of life of patients with hereditary pancreatitis, particularly the impact of pain.
Time frame: 20 years
Evaluate the quality of life of patients with hereditary pancreatitis, particularly the impact of pain.
Time frame: 20 years
Evaluate the quality of life of patients with hereditary pancreatitis, particularly the impact of pain.
Time frame: 20 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Feb 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Claude FEREC contact
Vinciane REBOURS principal investigator
APHP
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Pancreatitis and PRSS1 Gene Mutation, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 17 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Vinciane REBOURS (+33 1 40 87 52 15, vinciane.rebours@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluate the incidence of pancreatic adenocarcinoma (time frame: 20 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Feb 2026.