Recruiting

Genetics of Insulin

Sponsor:

Children's Hospital of Philadelphia

Code:

NCT01852448

Conditions

Cystic Fibrosis

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Not accepted

Interventions

Blood or Saliva Sample Collection

Study Details

Brief summary:

Cystic fibrosis related diabetes (CFRD) is associated with worse CF-relevant outcomes.

The mechanisms underlying CFRD development are not fully understood, but recent evidence suggests Type 2 Diabetes Mellitus (T2DM) mechanisms may be involved and may involve incretins (gut secreted hormones that augment insulin secretion in response to a nutrient load).

This study will examine the prevalence of Genome wide association study (GWAS)-implicated T2DM alleles (including TCF7L2) across the spectrum of glucose abnormalities in CF and will use this information to compare incretin and insulin secretion in non-diabetic children and adults with high risk and low risk alleles.

Conditions

Cystic Fibrosis

Study ID

NCT01852448

Start date

May, 2013

Status verified date

Jul, 2025

Completion date

Jul, 2026

Anticipated

Primary completion date

Jul, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Not accepted

Inclusion Criteria

1. Subjects age >2y
2. Diagnosis of Cystic Fibrosis
3. For subjects< 18 years, parental/guardian permission (informed consent) and if appropriate, child assent

Exclusion Criteria 1. Established diagnosis of non-CFRD (cystic fibrosis related diabetes) (e.g T1DM)

.

Study Design

Enrollment

550 participants

Anticipated

Interventions and Outcome Measures

Arms

Patients with Cystic Fibrosis

Blood or saliva sample collection and medical record review.

Interventions

Blood or Saliva Sample Collection

A blood or saliva sample will be obtained for genotyping of TCF7L2 and approximately ten other genes implicated in type 2 diabetes.

Primary outcome measure

  • Blood sample for DNA to genotype TCF7L2 and about 10 other GWAS-implicated T2DM genes. [ Time Frame: 1 day ]

Central Contacts and Locations

Central contacts

Rachel Walega

267-586-5969walegar1@chop.edu

Locations

The Children's Hopsital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Rachel Walega

267-586-5969walegar1@chop.edu

Principal Investigator:

Andrea Kelly, MD

The University of Pennsylvania

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Rachel Walega

267-586-5969walegar1@chop.edu

Principal Investigator:

Michael Rickels, MD

More Information

Sponsor

Children's Hospital of Philadelphia

Last update posted

Jul 25, 2025

Last verified

Jul, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Children's Hospital of Philadelphia on 2025-07-25.