Genetic Modifiers of Cystic Fibrosis Related Diabetes

Cystic Fibrosis Related Diabetes Clinical Trial

Official title:

Genetic Modifiers of Cystic Fibrosis Related Diabetes

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT01113216
• Other study ID #: NA_00005921
• Secondary ID: K23DK083551CFF-C
• Status: Enrolling by invitation
• Start date: April 2008
• Est. completion date: April 2025

Study information

• Verified date: May 2024
• Source: Johns Hopkins University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical 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).

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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 1500
• Est. completion date: April 2025
• Est. primary completion date: April 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 3 Months to 99 Years

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

• None

Related Conditions & MeSH terms

• Cystic Fibrosis
• Cystic Fibrosis Related Diabetes
• Diabetes Mellitus
• Fibrosis

Locations

Country	Name	City	State
United States	Johns Hopkins Medicine	Baltimore	Maryland
United States	Children's Memorial Hospital	Chicago	Illinois
United States	University of Minnesota	Minneapolis	Minnesota

Sponsors (5)

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

Country where clinical trial is conducted

United States, 

References & Publications (5)

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. — View Citation

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. — View Citation

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):3627-3 — View Citation

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/s0012 — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of Genes or other factors that influence the development of CFRD		5 years