Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) and Exocrine Pancreatic Dysfunction in Type 1 Diabetes

Exocrine Pancreatic Insufficiency, Type 1 Diabetes

Cystic fibrosis transmembrane regulator, Type 1 diabetes, Hypoglycemia, Exocrine pancreas

This study proposes to examine the contribution of CFTR variants to exocrine pancreatic insufficiency and hypoglycemic risk. Hypoglycemia is one the most frequent complications of type 1 diabetes management. Despite recent innovations, hypoglycemic risk remains high for people living with type 1 diabetes (PWT1D). Recent studies have shown that pancreatic insufficiency could affect hypoglycemic risk. Up to now, there are limited data on the association between pancreatic insufficiency and glucose control (i.e. the frequency and severity of hypoglycemic episodes as well as HbA1c levels). The main objective of this study is to determine the impact of pancreatic insufficiency on glucose control in PWT1D, and to address the role of CFTR variants as potential contributors to pancreatic insufficiency.

In this a one year cross sectional study, we plan to enroll 100 adults living with type 1 diabetes. Patient data will then be separated into two groups based the presence or absence of exocrine pancreatic insufficiency (EPI). EPI will be defined based on the levels of pancreatic enzymes (Amylase; lipase; and trypsinogen). As the prevalence of EPI in people living with type 1 diabetes (PWT1D) is \ 50%, we expect roughly the same number of individuals into both groups (with or without EPI). Variables : Subject data (age, gender, duration of diabetes, age at diagnostic, etc.) will be collected. Glucose variation will be assessed with a continuous glucose monitoring system for 1 month. Briefly we will collect the number and severity of hyperglycemic events, average glucose levels, glycemic variability, etc.. From collected peripheral blood mononuclear cells (PBMCs) we will quantify CFTR function and level of expression, as well as identify CFTR variants by next generation sequencing.

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