Genetic Modifiers of Cystic Fibrosis Related Diabetes

NCT01113216 | Enrolling By Invitation

• 3 other identifiers: NA_00005921K23DK083551CFF-CFRD01
• Study Type: observational
• Target: 1,500
• Locations: 1 country
• Sites: 3

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).

Conditions

Cystic Fibrosis Related Diabetes

Keywords

CF; CFRD; Diabetes; Genetic Modifiers

Outcome Measures

Primary Outcomes (1)

• Identification of Genes or other factors that influence the development of CFRD

  5 years

Eligibility Criteria

• Age: 3 Months - 99 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals affected with Cystic Fibrosis and family members

You may qualify if:

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

You may not qualify if:

• None

Sponsors & Collaborators

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

Study Sites (3)

Children's Memorial Hospital

Chicago, Illinois, United States

Location

Johns Hopkins Medicine

Baltimore, Maryland, 21287, United States

Location

University of Minnesota

Minneapolis, Minnesota, United States

Location

Related Publications (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.

  PMID: 39260370 BACKGROUND

• 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.

  PMID: 31697830 BACKGROUND

• 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.

  PMID: 36206743 BACKGROUND

• 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.

  PMID: 19126627 RESULT

• 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.

  PMID: 19585101 RESULT

• 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.

  PMID: 23670970 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

Blood 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.

MeSH Terms

Conditions

Diabetes Mellitus

Condition Hierarchy (Ancestors)

Glucose Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases

Study Officials

• Scott M Blackman, MD, PhD

  Johns Hopkins University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 28, 2010
• First Posted: April 29, 2010
• Study Start: April 1, 2008
• Primary Completion (Estimated): April 1, 2030
• Study Completion (Estimated): April 1, 2030
• Last Updated: April 13, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (3)