Microbiome and Genetic Analysis of Familial IBD

Inflammatory Bowel Diseases Clinical Trial

Official title:

Microbiome and Genetic Analysis of Family Members With Inflammatory Bowel Disease

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03515070
• Other study ID #: Familial_IBD_Microbiome
• Status: Completed
• Start date: May 9, 2018
• Est. completion date: December 30, 2019

Study information

• Verified date: February 2020
• Source: Kyunghee University Medical Center
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial Summary

Inflammatory bowel disease(IBD) is a chronic inflammatory condition for gastrointestinal tract.

Regarding its pathogenesis, there has been numerous studies to reveal the complex association between genetic and environmental factors.

In Korea, the incidence of IBD is growing rapidly but genetic studies solely including patients with Korean descent were not sufficient enough.

Therefore, the investigators planned to conduct genetic and fecal microbial analysis for the 60 individuals from 30 Korean IBD families to find out the pathogenesis of IBD.

Description:

Under the hypothesis that more risk variants will be observed among the familial IBD patient than in IBD patients without any other affected family members, the investigators designed genetic and fecal microbiome analysis for 60 patients form 30 families.

After extracting the DNA from blood samples, whole genome sequencing will be performed and data will be comprared with the previously reported variances. Novel variances or incidence of specific variances will be measured.

Genome-wide single nucleotide polymorphism array using Immunochip will be performed to search common genetic variants and to calculate genetic risk score of IBD.

In this study, fecal microbiome is a surrogate marker for the enviromental aspect of pathogenesis of IBD. The investigators assumed that family members are sharing similar mode of lifestyle therefore we're presumed that their fecal microbial composition is alike.

Comparing genetic and microbial datas altogether with the data from unaffected family member(Healthy internal control), investigators expecting to explain the genetic and enviromental aspect of IBD pathogenesis.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 25
• Est. completion date: December 30, 2019
• Est. primary completion date: September 30, 2019
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• 60 individuals from 30 families of Crohn's disease or ulcerative colitis.

• Unaffected 30 individuals from each family as healthy internal control.

Exclusion Criteria:

• Person with history of using antibiotics or probiotics within previous 4 weeks.

Related Conditions & MeSH terms

• Inflammatory Bowel Diseases
• Intestinal Diseases

Locations

Country	Name	City	State
Korea, Republic of	Kyung Hee University Medical Center	Seoul

Sponsors (1)

Lead Sponsor	Collaborator
Kyunghee University Medical Center

Country where clinical trial is conducted

Korea, Republic of, 

References & Publications (5)

Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z, Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN, Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A, Boucher G, Brand S, Büning C, Cohain A, Cichon S, D'Amato M, De Jong D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR, Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH, Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W, Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ, Zeissig S, Zhang B, Zhang CK, Zhao H; International IBD Genetics Consortium (IIBDGC), Silverberg MS, Annese V, Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC, Cho JH. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 2012 Nov 1;491(7422):119-24. doi: 10.1038/nature11582. — View Citation

Lashner BA, Evans AA, Kirsner JB, Hanauer SB. Prevalence and incidence of inflammatory bowel disease in family members. Gastroenterology. 1986 Dec;91(6):1396-400. — View Citation

Stittrich AB, Ashworth J, Shi M, Robinson M, Mauldin D, Brunkow ME, Biswas S, Kim JM, Kwon KS, Jung JU, Galas D, Serikawa K, Duerr RH, Guthery SL, Peschon J, Hood L, Roach JC, Glusman G. Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals. Hum Genome Var. 2016 Jan 7;3:15060. doi: 10.1038/hgv.2015.60. eCollection 2016. — View Citation

Thia KT, Loftus EV Jr, Sandborn WJ, Yang SK. An update on the epidemiology of inflammatory bowel disease in Asia. Am J Gastroenterol. 2008 Dec;103(12):3167-82. doi: 10.1111/j.1572-0241.2008.02158.x. Review. — View Citation

Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007 Jun 7;447(7145):661-78. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Rare genetic variants of inflammatory bowel disease	Results from whole genome sequencing of blood samples of study participants. Planned to compare with the previously reported variances.	Three months after the sample collection
Primary	Common genetic variants of inflammatory bowel disease	Results from genome-wide single nucleotide polymorphism array of blood samples of study participants.; Planned to compare with the previously reported variances.	Three months after the sample collection
Primary	Genetic risk score of inflammatory bowel disease	Results from genome-wide single nucleotide polymorphism array of blood samples of study participants.; Planned to compare with the previously reported variances.	Three months after the sample collection
Primary	Fecal microbiome composition of each study subjects	Microbial diversity measured from 16S RNA sequencing datas of fecal microbiomes.	Three months after the sample collection