SNPMiner Trials by Shray Alag

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Report for Mutation R702W

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Immunological Consequences of CARD15/NOD2 Mutations in Crohn's Disease

The project is based on adult and paediatric cohorts among the largest ones in Paris and located at Saint Louis and Robert Debré hospitals. Experiments will be performed at INSERM Unit U843 in collaboration with the department of immunology and statistics, Robert Debré Hospital.

NCT00780949 Crohn's Disease Other: intestinal biopsies
MeSH:Crohn Disease
HPO:Crohn's disease

The aim of the present proposal is to better understand the role of CARD15/NOD2 mutations (R702W, G908R and 1007fs) in the development and the function of the intestinal lymphoid tissue. --- R702W ---

Primary Outcomes

Measure: cytokine production and cell phenotype in Peyer patches

Time: final time frame at the end of the study

HPO Nodes

HP:0100280: Crohn's disease
Genes 4
CTLA4 PSTPIP1 INAVA IGHM
Protein Mutations 3
G908R R702W V600E
SNP 2
rs2062305 rs2097432