Genetic Modifiers of Cystic Fibrosis Related Diabetes

Обзор

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).

Подробное описание

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.

Первичные конечные точки

• Identification of Genes or other factors that influence the development of CFRD [Срок оценки: 5 years]

Критерии участия

Критерии включения

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

Критерии исключения

• None

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Да

Дизайн исследования

Модель наблюдения

Семейное

Центры проведения

США · 3 центра

• Children's Memorial Hospital — Chicago
• Johns Hopkins Medicine — Baltimore
• University of Minnesota — Minneapolis

Публикации

• 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
• 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
• 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
• 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
• 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
• 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

Идентификаторы

NCT: NCT01113216 · NA_00005921 · K23DK083551 · CFF-CFRD01

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

Открыть это исследование на ClinicalTrials.gov ↗