Cystic FibrosisNCT01852448
Genetics of Insulin and Incretins in Cystic Fibrosis
An observational study of Cystic Fibrosis, run by Children's Hospital of Philadelphia at 2 sites in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Cystic Fibrosis
- What is being tested?
- Blood or Saliva Sample Collection
- How many people
- 550 participants
- Where
- 2 sitesUnited States
- Study dates
- May 2013to Jul 2027
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with Cystic Fibrosis age >2 yrs
Who may be able to join
- Subjects age >2y
- Diagnosis of Cystic Fibrosis
- 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)
- .
Who cannot join
None listed.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Recruiting
The Children's Hopsital of Philadelphia
Philadelphia, Pennsylvania, 19104
Rachel Walega, 267-586-5969, walegar1@chop.edu
Andrea Kelly, MD
- Recruiting
The University of Pennsylvania
Philadelphia, Pennsylvania, 19104
Rachel Walega, 267-586-5969, walegar1@chop.edu
Michael Rickels, MD
About this study
Official title: Evaluation of the Enteroinsular Axis in Cystic Fibrosis
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.
Read the detailed description
CFRD is associated with worse nutritional status, greater pulmonary function decline, and increased mortality, highlighting its relevance in CF and arises primarily from compromised insulin secretion--traditionally considered a by-product of pancreatic exocrine tissue damage and fibrosis. Recent developments in the field of diabetes are propelling a re-examination of this basic explanation. Genome-wide association studies have associated genetic variants in TCF7L2, a transcription factor implicated in enteroendocrine function, with increased susceptibility to T2DM and CFRD.
The Objectives of this study are to perform targeted sequencing of TCF7L2 and other GWAS-associated T2DM genes in the pediatric and adult CF populations and then to compare insulin secretory capacity, β-cell sensitivity to glucose, and incretin secretion in non-diabetic CF subjects with high and low-risk alleles.
Phase 1 will include 450-500 subjects (Children age>= 2 years, adolescents, and adults) for TCF7L2 genotype and ten other GWAS-implicated T2DM genes. The distribution of TCF7L2 and other GWAS-implicated T2 DM genes across the spectrum of glucose abnormalities will be described. Phase 1 requires a single blood or saliva sample and review of medical records.
- Conditions
- Cystic Fibrosis
- Being tested
- Blood or Saliva Sample Collection
- Medical subject headings
- Cystic Fibrosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood or Saliva Sample CollectionGenetic
A blood or saliva sample will be obtained for genotyping of TCF7L2 and approximately ten other genes implicated in type 2 diabetes.
| Study group | Role | What they receive |
|---|---|---|
| Patients with Cystic Fibrosis | Blood or saliva sample collection and medical record review. Receives: Genetic: Blood or Saliva Sample Collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 May 2013 (estimated)
- Study startMay 2013
- Primary completionJul 2027 (estimated)
- Study completionJul 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cystic FibrosisStudies of the same condition, open and under way.
- More trials run by Children's Hospital of PhiladelphiaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 550 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Philadelphia
- Sponsor type
- University, hospital or other
- Collaborators
- University of Pennsylvania
- Responsible party
- Sponsor
- Investigators
- Andrea Kelly, MD, Principal investigator, Children's Hospital of Philadelphia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01852448
- Sponsor's protocol ID
- 12-009589
- Status last verified
- Sep 2026
- First submitted
- 9 May 2013
- Last updated
- 16 Sep 2026
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- No