Cystic Fibrosis Related DiabetesNCT01113216
Genetic Modifiers of Cystic Fibrosis Related Diabetes
An observational study of Cystic Fibrosis Related Diabetes, run by Johns Hopkins University at 3 sites in United States.
Trial summary
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). Read more about this study
- Who is it for?
- Ages 3 months to 99 yearsHealthy volunteers can take part
- Conditions the study is for
- Cystic Fibrosis Related Diabetes
- How many people
- 1,500 participants
- Where
- 3 sitesUnited States
- Study dates
- Apr 2008to Apr 2030
- 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 3 months to 99 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Individuals affected with Cystic Fibrosis and family members
Who may be able to join
- Any person with Cystic Fibrosis and his/her parents.
Who cannot join
- None
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States3 sites
Johns Hopkins Medicine
Baltimore, Maryland, 21287
Children's Memorial Hospital
Chicago, Illinois
University of Minnesota
Minneapolis, Minnesota
About this study
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).
Read the 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.
- Conditions
- Cystic Fibrosis Related Diabetes
- Keywords
- CF, CFRD, Diabetes, Genetic Modifiers
- Medical subject headings
- Diabetes Mellitus
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of Genes or other factors that influence the development of CFRD
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Apr 2010 (estimated)
- Study startApr 2008
- Primary completionApr 2030 (estimated)
- Study completionApr 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Cystic Fibrosis Related DiabetesStudies of the same condition, open and under way.
- More trials run by Johns Hopkins UniversityThe 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 1,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Johns Hopkins University
- Sponsor type
- University, hospital or other
- Collaborators
- Cystic Fibrosis Foundation, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), University of Minnesota, Northwestern University
- Responsible party
- Sponsor
- Investigators
- Scott M Blackman, MD, PhD, Principal investigator, Johns Hopkins University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01113216
- Sponsor's protocol ID
- NA_00005921
- Other IDs
- K23DK083551, CFF-CFRD01
- Status last verified
- Apr 2026
- First submitted
- 28 Apr 2010
- Last updated
- 13 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Publications
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.
PubMed 39260370Aksit 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.
PubMed 31697830Aksit 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.
PubMed 36206743Blackman 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.
PubMed 19126627Blackman 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.
PubMed 19585101Blackman 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.
PubMed 23670970