Genetics of Insulin and Incretins in Cystic Fibrosis

NCT01852448 | Recruiting DMC

• 1 other identifier: 12-009589
• Study Type: observational
• Target: 550
• Locations: 1 country
• Sites: 2

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

Outcome Measures

Primary Outcomes (1)

• Blood sample for DNA to genotype TCF7L2 and about 10 other GWAS-implicated T2DM genes.

  To examine the prevalence of GWAS-implicated T2DM alleles (including TCF7L2) across the spectrum of glucose abnormalities in children and adults with CF.

  1 day

Study Arms (1)

Patients with Cystic Fibrosis

Blood or saliva sample collection and medical record review.

Genetic: Blood or Saliva Sample Collection

Interventions

Blood or Saliva Sample Collection GENETIC

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

Patients with Cystic Fibrosis

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with Cystic Fibrosis age \>2 yrs

You may qualify if:

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

Sponsors & Collaborators

• Children's Hospital of Philadelphia: lead
• University of Pennsylvania: collaborator

Study Sites (2)

The Children's Hopsital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

The University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

MeSH Terms

Conditions

Cystic Fibrosis

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Pancreatic Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Andrea Kelly, MD

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Rachel Walega

CONTACT

267-586-5969; walegar1@chop.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 9, 2013
• First Posted: May 13, 2013
• Study Start: May 1, 2013
• Primary Completion (Estimated): July 1, 2026
• Study Completion (Estimated): July 1, 2026
• Last Updated: July 25, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)