Genetic Modifiers of Cystic Fibrosis Related Diabetes

Genetic Modifiers of Cystic Fibrosis Related Diabetes

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01113216

Recruitment Status : Enrolling by invitation
First Posted : April 29, 2010
Last Update Posted : May 11, 2023



Information provided by (Responsible Party):
Johns Hopkins University

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Brief 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).

Cystic Fibrosis Related Diabetes

Detailed Description:
The study is **RECRUITING NOW** 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.

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Study Type :

Estimated Enrollment :
1500 participants

Observational Model:

Time Perspective:

Official Title:
Genetic Modifiers of Cystic Fibrosis Related Diabetes

Study Start Date :
April 2008

Estimated Primary Completion Date :
April 2025

Estimated Study Completion Date :
April 2025

Resource links provided by the National Library of Medicine

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Primary Outcome Measures :

Identification of Genes or other factors that influence the development of CFRD [ Time Frame: 5 years ]

Biospecimen Retention:   Samples With DNABlood will be drawn from study participants and their parents. Two tablespoons of blood (one tablespoon in small children) will be drawn by standard techniques from a vein in the arm. Whenever possible, blood samples for this study will be collected at the same time that it is done for medically needed blood tests. This blood will be used to extract DNA and to establish cell lines that we will store as a permanent source of DNA. We will compare your clinical symptoms with your DNA to see if additional genes that affect CF symptoms can be found. Some serum and plasma will be stored for later testing, as additional knowledge becomes available. Any tests done in the future with your stored blood samples or your DNA will only be to answer questions about genes for CF.

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Information from the National Library of Medicine
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:  
3 Months to 99 Years   (Child, Adult, Older Adult)

Sexes Eligible for Study:  

Accepts Healthy Volunteers:  

Sampling Method:  
Non-Probability Sample

Individuals affected with Cystic Fibrosis and family members

Inclusion Criteria:

Any person with Cystic Fibrosis and his/her parents.

Exclusion Criteria:

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Information from the National Library of Medicine
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its identifier (NCT number): NCT01113216

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Children’s Memorial Hospital

Chicago, Illinois, United States

Johns Hopkins Medicine

Baltimore, Maryland, United States, 21287

University of Minnesota

Minneapolis, Minnesota, United States

Johns Hopkins University
Cystic Fibrosis Foundation
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
University of Minnesota
Northwestern University

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Principal Investigator:
Scott M Blackman, MD, PhD
Johns Hopkins University

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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.
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.

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Responsible Party:
Johns Hopkins University Identifier:

Other Study ID Numbers:
NA_00005921K23DK083551 ( U.S. NIH Grant/Contract )CFF-CFRD01 ( Other Identifier: Other )

First Posted:
April 29, 2010    Key Record Dates

Last Update Posted:
May 11, 2023

Last Verified:
May 2023

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Keywords provided by Johns Hopkins University:

CFCFRDDiabetesGenetic Modifiers

Additional relevant MeSH terms:

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Cystic FibrosisDiabetes MellitusFibrosisGlucose Metabolism DisordersMetabolic DiseasesEndocrine System DiseasesPathologic Processes
Pancreatic DiseasesDigestive System DiseasesLung DiseasesRespiratory Tract DiseasesGenetic Diseases, InbornInfant, Newborn, Diseases

Source: View full study details on

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. By listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.

May 12, 2023Comments | Endocrinology Clinical Trials | Endocrinology Studies | US National Library of Medicine