Genetics of Insulin and Incretins in Cystic Fibrosis

This observational study is looking into why some people with cystic fibrosis (CF) develop cystic fibrosis related diabetes (CFRD). CFRD can lead to worse health outcomes for people with CF. Researchers believe that some of the same genetic factors involved in type 2 diabetes (T2DM) might also play a role in CFRD. This study will collect a blood or saliva sample from participants to look at specific genes, including TCF7L2 and about ten others linked to T2DM. They will then compare how insulin and incretins (hormones that help control blood sugar) work in people with different genetic profiles. The goal is to better understand the mechanisms behind CFRD development. You may be able to join if you are at least 2 years old, have a diagnosis of Cystic Fibrosis, and do not have a diagnosis of non-CFRD diabetes like Type 1 Diabetes.

Study design
This is an observational study planning to enroll 550 participants. It will examine genetic factors and their link to insulin and incretin secretion in people with cystic fibrosis.
What's involved
You would provide a single blood or saliva sample for genetic testing. Your medical records would also be reviewed.
Compensation
Not stated in the trial record.
Follow-up
Blood samples for DNA genotyping are measured at 1 day, which is the primary endpoint.

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NCT01852448

Genetics of Insulin and Incretins in Cystic Fibrosis

Recruiting
Not specifiedAges 2+Observational
Children's Hospital of Philadelphia
~550 participants
Updated 2025-07-25 on ClinicalTrials.gov
What's tested:Blood or Saliva Sample Collection

At a glance

Recruiting sites
2 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Blood sample for DNA to genotype TCF7L2 and about 10 other GWAS-implicated T2DM genes.
Measured over 1 day
Cystic Fibrosis
2 sites across 1 states
Pennsylvania2
  • Andrea Kelly, MD · PRINCIPAL_INVESTIGATOR · Children's Hospital of Philadelphia

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

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