PF19: Genetic Question 6

For complex pancreatic disease clinical studies, what demographic, history, biomarker, disease state, targeted disorder, intervention and outcome data from individual subjects shall be included and reported?

Chairs: Aliye Uc MD,

Delegates: Andrea Párniczky MD,

Considerations: This should include information on which model was used to design and conduct the study, and how much information about each individual patient should be included in int report.

7 Replies to “PF19: Genetic Question 6”

  1. Following are some of the key points that I feel should be reported in clinical studies of complex pancreatic disorders (especially in the context of chronic pancreatitis [CP]):

    1. Age of onset of symptoms
    2. Duration between symptom onset and diagnosis of CP
    3. Number and frequency of acute exacerbations
    4. Duration between symptom onset/diagnosis of CP and diagnosis of pre-diabetic state or frank diabetes
    5. Presence of structural abnormalities such as pancreas divisum or other triggers such as calcium, triglycerides and specific phramacologic agents known to increase the risk of acute pancreatitis.
    6. Rate of progression (clinical or radiological) based on objective predefined checkpoints

    All these could turn out to have associations with specific patterns of genetic abnormalities.


  2. I agree with Rup and Andrea. This is a very important question and I hope more people get engaged. This will have to involve longitudinal natural history studies. We need to collect demographics along with clinical data prospectively to better understand the impact of various risk factors (genetic, environmental, anatomic) on disease onset, progression and whether interventions change outcomes. Patient’s symptoms, pain patterns, QOL, family history, environmental risk factors etc should be taken into account. Biomarkers can be developed in such cohorts as disease progresses from ARP to CP, then exocrine pancreatic deficiency and diabetes. Several of us are involved in such studies, to make correlation between genotype and manifestations of patients’ illness, which does not seem to follow a Mendelian inheritance for pancreatic diseases.

  3. I agree with comments made above. I think this is a nice opportunity to review what has been/ is being done and collected by different international groups (whether more “North America”- INSPPIRE1-2 (+ 1 Israel + 1 Australia sites), European (APPLE -P/R via Hungary, Poland, etc) to try to determine if all relevant data is being collected/ whether we should change or add to what we are collecting based on experience of other groups, and whether disease behaves differently in different parts of the world (that could be related to different genetics/ environments/ or even treatment preferences)— with a more global overview- something that has not been done to date.

  4. You are right Veronique. It is important to know whether genetic variations around the world combined with environmental influences has an impact on disease outcome . We have a manuscript in the works that look in regional differences within INSPPIRE sites. We are also exploring pain and QOL in 2 different cohorts of children with CP (INSPPIRE and Polish cohorts). Work can be expanded to include a broad genetic evaluation and with more sites.

    Questionnaires should look for the following (roughly):
    –Demographics (Age, sex, race, ethnicity)
    –AP, ARP, CP (age of onset)
    –Risk factors (genetic–sequencing of pancreatitis associated genes, environmental, obstructive, autoimmune)
    –Disease burden (pain, ER visits, hospital;izations, days school missed)
    –Therapies (endoscopic, medical, surgical)


  5. Since most patients with CP have a history of prior AP/ARP, I think it is important to know who had a positive imaging study showing AP as abdominal pain and lipase elevations are not specific to AP. Similarly, CP definitions are variable so what one clinician calls CP is not necessarily what another will agree with. Genetic testing can be pursued in any patient but if these individuals are not well phenotyped, the results of testing will be more difficult to interpret.

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