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Microbiome and Genetic Analysis of Familial IBD

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ClinicalTrials.gov Identifier: NCT03515070
Recruitment Status : Active, not recruiting
First Posted : May 3, 2018
Last Update Posted : October 18, 2019
Sponsor:
Information provided by (Responsible Party):
Chang Kyun Lee, Kyunghee University Medical Center

Brief 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.


Condition or disease
Inflammatory Bowel Diseases

Detailed 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.


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Study Type : Observational [Patient Registry]
Estimated Enrollment : 90 participants
Observational Model: Family-Based
Time Perspective: Cross-Sectional
Target Follow-Up Duration: 1 Year
Official Title: Microbiome and Genetic Analysis of Family Members With Inflammatory Bowel Disease
Actual Study Start Date : May 9, 2018
Actual Primary Completion Date : September 30, 2019
Estimated Study Completion Date : December 30, 2019

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Genetic Testing




Primary Outcome Measures :
  1. Rare genetic variants of inflammatory bowel disease [ Time Frame: Three months after the sample collection ]
    Results from whole genome sequencing of blood samples of study participants. Planned to compare with the previously reported variances.

  2. Common genetic variants of inflammatory bowel disease [ Time Frame: Three months after the sample collection ]

    Results from genome-wide single nucleotide polymorphism array of blood samples of study participants.

    Planned to compare with the previously reported variances.


  3. Genetic risk score of inflammatory bowel disease [ Time Frame: Three months after the sample collection ]

    Results from genome-wide single nucleotide polymorphism array of blood samples of study participants.

    Planned to compare with the previously reported variances.


  4. Fecal microbiome composition of each study subjects [ Time Frame: Three months after the sample collection ]
    Microbial diversity measured from 16S RNA sequencing datas of fecal microbiomes.


Biospecimen Retention:   Samples With DNA

Blood and fecal sample from each study subjects

  • DNA extraction will be performed soon after the blood sampling.
  • Fecal sample will be prepped for the microbiome analysis and microbial 16 S RNA will be extracted from the sample.


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

The investigators are planned to study family members with IBD(Crohn's disease or ulcerative colitis).

They are all Koreal descent and study candidates are two patients from each 30 families. As a healthy internal control, another family member without IBD history will be also enrolled.

Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03515070


Locations
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Korea, Republic of
Kyung Hee University Medical Center
Seoul, Korea, Republic of, 180-702
Sponsors and Collaborators
Kyunghee University Medical Center
Investigators
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Principal Investigator: Hyo Jong Kim, M.D. PhD Kyung Hee University Hospital
Principal Investigator: Chang Kyun Lee, M.D. PhD Kyung Hee University Hospital

Additional Information:

Publications:
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.

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Responsible Party: Chang Kyun Lee, Professor, Kyunghee University Medical Center
ClinicalTrials.gov Identifier: NCT03515070     History of Changes
Other Study ID Numbers: Familial_IBD_Microbiome
First Posted: May 3, 2018    Key Record Dates
Last Update Posted: October 18, 2019
Last Verified: October 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description:

After publishing the results, any data sharing request from other researchers will be positively considered.

But extent of sharing is not decided yet.


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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Chang Kyun Lee, Kyunghee University Medical Center:
Gastrointestinal Microbiome
Genetics
Additional relevant MeSH terms:
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Intestinal Diseases
Inflammatory Bowel Diseases
Gastrointestinal Diseases
Digestive System Diseases
Gastroenteritis