Genetic Modifiers of Cystic Fibrosis Related Diabetes

NCT ID: NCT01113216

Last Updated: 2025-04-30

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

1500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2008-04-30

Study Completion Date

2030-04-30

Brief Summary

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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).

Detailed Description

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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

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Cystic Fibrosis Related Diabetes

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* Any person with Cystic Fibrosis and his/her parents.

Exclusion Criteria

* None
Minimum Eligible Age

3 Months

Maximum Eligible Age

99 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Cystic Fibrosis Foundation

OTHER

Sponsor Role collaborator

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

NIH

Sponsor Role collaborator

University of Minnesota

OTHER

Sponsor Role collaborator

Northwestern University

OTHER

Sponsor Role collaborator

Johns Hopkins University

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Scott M Blackman, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Johns Hopkins University

Locations

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Children's Memorial Hospital

Chicago, Illinois, United States

Site Status

Johns Hopkins Medicine

Baltimore, Maryland, United States

Site Status

University of Minnesota

Minneapolis, Minnesota, United States

Site Status

Countries

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United States

References

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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.

Reference Type BACKGROUND
PMID: 31697830 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 36206743 (View on PubMed)

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.

Reference Type RESULT
PMID: 19126627 (View on PubMed)

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.

Reference Type RESULT
PMID: 19585101 (View on PubMed)

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.

Reference Type RESULT
PMID: 23670970 (View on PubMed)

Other Identifiers

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K23DK083551

Identifier Type: NIH

Identifier Source: secondary_id

View Link

CFF-CFRD01

Identifier Type: OTHER

Identifier Source: secondary_id

NA_00005921

Identifier Type: -

Identifier Source: org_study_id

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