- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01113216
Genetic Modifiers of Cystic Fibrosis Related Diabetes
April 9, 2026 updated by: Johns Hopkins University
This research is being done to find the genes and other factors that are responsible for differences among persons with cystic fibrosis.
We are particularly interested in the factors that relate to the development of Cystic Fibrosis Related Diabetes (CFRD).
Study Overview
Status
Enrolling by invitation
Conditions
Detailed Description
The study is recruiting people with cystic fibrosis (CF).
The medical record is being extracted, and a blood sample is taken for DNA.
The DNA samples are tested for variation both at the cystic fibrosis transmembrane conductance regulator (CFTR) gene (the CF gene) and over the entire rest of the genome.
Using large numbers of people with CF, and knowing who does and does not have CFRD, we identify genetic variations that associate with CFRD.
Knowing these variations allows us to better understand the causes of CFRD, and with enough information, better to predict CFRD and identify people at particularly high or low risk of CFRD.
People participating in this study also have the option to participate in related studies of other metabolic traits in CF such as over- and underweight.
Study Type
Observational
Enrollment (Estimated)
1500
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
-
-
Illinois
-
Chicago, Illinois, United States
- Children's Memorial Hospital
-
-
Maryland
-
Baltimore, Maryland, United States, 21287
- Johns Hopkins Medicine
-
-
Minnesota
-
Minneapolis, Minnesota, United States
- University of Minnesota
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
3 months to 99 years (Child, Adult, Older Adult)
Accepts Healthy Volunteers
Yes
Sampling Method
Non-Probability Sample
Study Population
Individuals affected with Cystic Fibrosis and family members
Description
Inclusion Criteria:
- Any person with Cystic Fibrosis and his/her parents.
Exclusion Criteria:
- None
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
|---|---|
|
Identification of Genes or other factors that influence the development of CFRD
Time Frame: 5 years
|
5 years
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Collaborators
Investigators
- Principal Investigator: Scott M Blackman, MD, PhD, Johns Hopkins University
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
General Publications
- Blackman SM, Commander CW, Watson C, Arcara KM, Strug LJ, Stonebraker JR, Wright FA, Rommens JM, Sun L, Pace RG, Norris SA, Durie PR, Drumm ML, Knowles MR, Cutting GR. Genetic modifiers of cystic fibrosis-related diabetes. Diabetes. 2013 Oct;62(10):3627-35. doi: 10.2337/db13-0510. Epub 2013 May 13.
- Aksit MA, Pace RG, Vecchio-Pagan B, Ling H, Rommens JM, Boelle PY, Guillot L, Raraigh KS, Pugh E, Zhang P, Strug LJ, Drumm ML, Knowles MR, Cutting GR, Corvol H, Blackman SM. Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits. J Clin Endocrinol Metab. 2020 May 1;105(5):1401-15. doi: 10.1210/clinem/dgz102.
- Blackman SM, Hsu S, Ritter SE, Naughton KM, Wright FA, Drumm ML, Knowles MR, Cutting GR. A susceptibility gene for type 2 diabetes confers substantial risk for diabetes complicating cystic fibrosis. Diabetologia. 2009 Sep;52(9):1858-65. doi: 10.1007/s00125-009-1436-2. Epub 2009 Jul 8.
- Aksit MA, Ling H, Pace RG, Raraigh KS, Onchiri F, Faino AV, Pagel K, Pugh E, Stilp AM, Sun Q, Blue EE, Wright FA, Zhou YH, Bamshad MJ, Gibson RL, Knowles MR, Cutting GR, Blackman SM; CF Genome Project. Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis. Am J Hum Genet. 2022 Oct 6;109(10):1894-1908. doi: 10.1016/j.ajhg.2022.09.004.
- Blackman SM, Hsu S, Vanscoy LL, Collaco JM, Ritter SE, Naughton K, Cutting GR. Genetic modifiers play a substantial role in diabetes complicating cystic fibrosis. J Clin Endocrinol Metab. 2009 Apr;94(4):1302-9. doi: 10.1210/jc.2008-2186. Epub 2009 Jan 6.
- Ling H, Raraigh KS, Pugh EW, Aksit MA, Zhang P, Pace RG, Faino AV, Bamshad MJ, Gibson RL, O'Neal W, Knowles MR, Blackman SM, Cutting GR; CF Genome Project. Genetic modifiers of body mass index in individuals with cystic fibrosis. Am J Hum Genet. 2024 Oct 3;111(10):2203-2218. doi: 10.1016/j.ajhg.2024.08.004. Epub 2024 Sep 10.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start
April 1, 2008
Primary Completion (Estimated)
April 1, 2030
Study Completion (Estimated)
April 1, 2030
Study Registration Dates
First Submitted
April 28, 2010
First Submitted That Met QC Criteria
April 28, 2010
First Posted (Estimated)
April 29, 2010
Study Record Updates
Last Update Posted (Actual)
April 13, 2026
Last Update Submitted That Met QC Criteria
April 9, 2026
Last Verified
April 1, 2026
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- NA_00005921
- K23DK083551 (U.S. NIH Grant/Contract)
- CFF-CFRD01 (Other Identifier: Other)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
NO
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Cystic Fibrosis Related Diabetes
-
University of Colorado, DenverCystic Fibrosis FoundationTerminatedCystic Fibrosis-related Diabetes | Cystic Fibrosis Pulmonary Exacerbation | Cystic Fibrosis in ChildrenUnited States
-
Rhode Island HospitalCystic Fibrosis FoundationRecruitingCystic Fibrosis | Cystic Fibrosis-related Diabetes | Cystic Fibrosis With Intestinal ManifestationsUnited States
-
University of PortsmouthUniversity Hospital Southampton NHS Foundation Trust; Loughborough University; Queen Alexandra HospitalTerminated
-
University of PennsylvaniaRecruitingCystic Fibrosis-related Diabetes | Pancreatic InsufficiencyUnited States
-
Indiana UniversityRecruitingPrediabetes | Cystic Fibrosis (CF) | Cystic Fibrosis-related DiabetesUnited States
-
Boston Children's HospitalCompletedCystic Fibrosis | Cystic Fibrosis-related Diabetes | Cystic Fibrosis With Intestinal ManifestationsUnited States
-
Dartmouth-Hitchcock Medical CenterTrustees of Dartmouth CollegeWithdrawnCystic Fibrosis-related Diabetes | Cystic Fibrosis Liver Disease | CF - Cystic FibrosisUnited States
-
Hacettepe UniversityCompletedDiabetes Mellitus | Cystic Fibrosis | Cystic Fibrosis-related DiabetesTurkey
-
University of CambridgeUniversity of Oxford; University of EdinburghActive, not recruitingCystic Fibrosis-related DiabetesUnited Kingdom
-
Jagdeesh UllalWake Forest University Health SciencesCompletedCystic Fibrosis-related DiabetesUnited States