Measurement of Beta Cell Death in Individuals With Cystic Fibrosis

This study evaluates the feasibility of using differentially methylated insulin DNA, a biomarker of beta cell death, in determining the time course of beta cell death and development of diabetes in people with cystic fibrosis. Study participants with cystic fibrosis and healthy control participants will have a blood sample drawn in order to measure the levels of differentially methylated insulin DNA.

Study Overview

• Status: Completed
• Conditions: Cystic Fibrosis-related Diabetes
• Intervention / Treatment: Diagnostic test: Measurement of differentially methylated insulin DNA

Detailed Description

Cystic fibrosis related diabetes (CFRD) causes increased morbidity and mortality in people with cystic fibrosis (CF). The prevalence of CFRD increases with age. While CFRD is diagnosed in only 2 percent of children under 10 year sof age, it is present in 19 percent of adolescents and up to 50 percent of adults with CF. Although CFRD is uncommon in children, recent animal and human studies have shown that milder glycemic abnormalities are common in infants and young children with CF. One of the proposed mechanisms for early glucose dysregulation in CF is related to ongoing beta cell death that may start at a very early age. The assay to be used in this study measures differentially methylated insulin DNA, released exclusively by beta cells, to determine levels of beta cell death. This assay has been shown to detect beta cell death in individuals at risk of developing type 1 diabetes. If this assay successfully detects beta cell death in individuals with CF, the investigators can identify critical time points of beta cell loss in people with CF. Understanding how and when glycemic dysregulation occurs in CF will lead to better treatment of CFRD in the future.

• Study Type: Observational
• Enrollment (Actual): 40

Contacts and Locations

Study Locations

• United States
  • Nebraska
    • Omaha, Nebraska, United States, 68114
      • Children's Hospital and Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 21 years (Child, Adult)
• Accepts Healthy Volunteers: N/A

• Sampling Method: Probability Sample

Study Population

Subjects with CF between the age of 0 and 21 years who are at their baseline health and have not started CFTR modulator therapy within the past 6 months.

Healthy, age-matched controls between 0 and 21 years of age who do not have pancreatic endocrine or exocrine dysfunction.

Description

Inclusion Criteria for Cystic Fibrosis Subjects:

• Age 0 - 21 years
• Diagnosis of CF by two CF-causing mutations or elevated sweat chloride test
• Normal glucose tolerance, impaired glucose tolerance, indeterminate glucose tolerance or CFRD
• Pancreatic insufficiency

Exclusion Criteria for Cystic Fibrosis Subjects:

• Age > 21 years
• Diagnosis of type 1 or type 2 diabetes
• Pregnancy
• Oral or IV steroid use in the past 2 weeks
• Pulmonary exacerbation requiring hospital admission in the past 2 weeks.
• Initiation of CFTR corrector or potentiator medication within 6 months

Inclusion Criteria for healthy, age-matched controls:

• Age 0 - 21 years

Exclusion Criteria for healthy, age-matched controls:

• Age > 21 years
• Diagnosis of type 1 or type 2 diabetes or pre-diabetes
• Disorders impacting pancreatic exocrine function
• Pregnancy
• Oral or IV steroid use in the past 2 weeks

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Cystic Fibrosis; Serum sample will be drawn once	Diagnostic test: Measurement of differentially methylated insulin DNA; A serum sample will be drawn to measure differentially methylated insulin DNA.
Healthy, age-matched controls; Serum sample will be drawn once	Diagnostic test: Measurement of differentially methylated insulin DNA; A serum sample will be drawn to measure differentially methylated insulin DNA.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Levels of differentially methylated insulin DNA from infancy to early adulthood in people with cystic fibrosis	Levels of differentially methylated insulin DNA in people with CF from infancy to young adulthood will be measured and compared to levels in healthy, age-matched controls.	Level to be drawn once, usually within 3 months of recruitment into study.

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Correlation between level of differentially methylated insulin DNA and oral glucose tolerance status in people with CF.	Levels of differentially methylated insulin DNA in adolescents and young adults with CF will be correlated with oral glucose tolerance status such as impaired glucose tolerance, indeterminate glucose tolerance and CFRD.	Level to be drawn once, usually within 3 months of recruitment into study.
Correlation between level of differentially methylated insulin DNA and use of CFTR modulator therapy.	Measure differences in levels of differentially methylated insulin DNA in people with CF on CFTR modulator drugs and people with CF not on modulator therapy.	Level to be drawn once, usually within 3 months of recruitment into study.

Collaborators and Investigators

• Sponsor: University of Nebraska
• Collaborators: Cystic Fibrosis Foundation
• Investigators: Principal Investigator: Ashley R Deschamp, MD, University of Nebraska

Study record dates

Study Major Dates

• Study Start (Actual): April 4, 2019
• Primary Completion (Actual): June 30, 2021
• Study Completion (Actual): June 30, 2021

Study Registration Dates

• First Submitted: October 15, 2018
• First Submitted That Met QC Criteria: October 17, 2018
• First Posted (Actual): October 19, 2018

Study Record Updates

• Last Update Posted (Actual): April 7, 2026
• Last Update Submitted That Met QC Criteria: April 6, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Respiratory Tract Diseases; Lung Diseases; Infant, Newborn, Diseases; Genetic Diseases, Inborn; Pancreatic Diseases; Fibrosis; Cystic Fibrosis; Hypoglycemic Agents; Physiological Effects of Drugs; Insulin
• Other Study ID Numbers: 0611-18-EP

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No