Very Early-Onset Inflammatory Bowel Disease: A Unique Disease
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1 Very Early-Onset Inflammatory Bowel Disease: A Unique Disease Judith Kelsen MD, Noor Dawany PhD, Maire Conrad MD, Claudio Giraudo PhD, Edward Behrens MD, Kathleen Sullivan MD, PHD, Marcella Devoto PhD
2 Objectives Unique pathogenesis of VEO-IBD Severe disease phenotype can be seen in subset of VEO-IBD Critical need to develop better therapeutic tools Future plans
3 Very Early-Onset IBD: The Challenge Diagnosed 5 years of age Frequently different phenotype More severe disease presentation Often refractory to conventional therapies
4 Role of Genomics Differs Approach Whole Exome GWAS Genes Monogenic Polygenic Environment Variants Penetrance Frequency
5 Hypothesis: Hypothesis and Aims VEO-IBD has unique drivers of disease and can have a different phenotype than older-onset IBD Aim: Characterize the disease course in children with VEO-IBD in order to identify therapeutic interventions
6 Study Design Retrospective single center study Primary outcomes: Surgical interventions Growth failure Secondary outcome Medication use immunophenotyping Histology
7 Methods Subjects Study window: Unselected cohorts Cases: children diagnosed with IBD<5 years of age Intermediate: children diagnosed 6-10 Older-onset: children diagnosed with IBD >10 Genetics Whole exome sequencing performed by Illumina HiSeq platform Bioinformatic pipeline to filter for MAF, pathogenicity Metadat a Patient demographics, phenotype, disease activity, surgical rates, growth, medications recorded Immunophenotyping Histology analysis
8 Results
9 Demographics VEO Intermediate Older Onset N Male (%) 58.3% 46.6% 43.6% Age of diagnosis (median) 3.2 ( ) 8.2 ( ) 12.6 ( )
10 Demographics N Male (%) Age of Diagnosis (median) VEO % 3.2 ( ) Intermediate % 8.2 ( ) Older Onset % 12.6 ( )
11 Disease Classification
12 Disease Location
13 Surgery Surgery VEO Intermediate Older Onset P-Value Ostomy 11% 5.1% 0.9% P < Colectomy 7.4% 2.3% 1.3% P <
14 Surgery P<0.001 P<0.001
15 Change in BMI
16 Medication Exposure (% on Medication)
17 Nonresponse at 1 year
18 Co-Morbidities Comorbidities VEO Intermediate Older Onset Primary Sclerosing Cholangitis Celiac Hirschsprung Autoimmune Hepatitis Lung Transplant Kidney Transplant Turner s Syndrome Psoriasis Autoimmune Encephalitis Focal Segmental Glomerulosclerosis Renal Artery Stenosis Cholangiocarcinoma Sensorineural Hearing Loss Trisomy Jejunal Atresia Congenital Diaphragmatic Hernia Immune Thrombocytopenic Purpura Sickle Cell 3 2 0
19
20 Eosinophilic Predominance
21 Apoptosis
22 WES Data Monogenic defects: 14 confirmed Digenic defects: 2 confirmed 21 with tentative defects undergoing confirmatory testing: Epithelial defects (3) Hyperinfammatory pathway (8) Immunoregulatory (3) B cell defects (4) T cell defects (3)
23 Hospitalizations of those with monogenic disease
24 Length of stay with monogenic disease
25 Comorbidities
26 B Cell Maturation Defects Decreased switch memory: VEO-IBD Controls CD21 lo B cell: increase in transitional cells
27 Plasmablasts VEO-IBD Healthy Controls
28 T cell Abnormalities: CD45RA/RO Controls VEO-IBD
29 VEO-IBD T cell defects Controls CD8 Monocytes
30 Targeted Medication and Treatment Surgery VEO Intermediate Older Onset Sargramostim Sirolimus Tacrolimus Anti-IL Anakinra Canakinumab Ritixumab Immunoglobulin BMT 4 0 0
31 Future Studies Genomic sequencing (WES, WGS) and RNAsequencing ongoing Immunophenotyping panel Enteroid model studies ongoing Animal models Microbiome analysis
32 Conclusions Children with VEO-IBD can have a more severe disease phenotype : Higher surgical rate Decreased improvement in BMI Identifying etiology can lead to targeted therapy WES Immunophenotyping Histology
33 CHOP Marcella Devoto, PhD Noor Dawany, PhD Kate Sullivan, MD, PhD Maire Conrad, MD Edward Behrens, MD Pierre Russo, MD Claudio Giraudo, PhD Andrew Grossman, MD Petar Mamula, MD David Piccoli, MD Robert Baldassano, MD Lindsey Albenberg, DO Betsy Maxwell, MD Ronen Stein, MD Thank You Support: NIH K23DK A CCFA BROAD Penn Fredric Bushman, PhD Kate Hamilton, PhD Kyle Bittinger, PhD Cornell David Artis, PhD Greg Sonnenberg, PhD
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