Maire A Conrad
VerifiedUniversity of Pennsylvania · Rehabilitation Medicine
Active 2013–2025
About
Maire A Conrad, MD, MS, is an Assistant Professor of Pediatrics specializing in Gastroenterology, Hepatology, and Nutrition at the Children's Hospital of Philadelphia. Her clinical expertise focuses on pediatric inflammatory bowel disease, including very early onset inflammatory bowel disease. Her research interests encompass translational microbiome studies, host-microbe interactions, and infections such as Clostridioides difficile. Dr. Conrad has contributed to understanding the biological mechanisms underlying pediatric gastrointestinal diseases and has been involved in clinical and translational research, including studies on treatments like Risankizumab and Upadacitinib for inflammatory bowel disease. She holds a medical degree from Drexel University College of Medicine and completed her MS in Translational Research at the University of Pennsylvania School of Medicine. Her work aims to improve diagnosis, management, and therapeutic strategies for pediatric patients with inflammatory bowel conditions.
Research topics
- Medicine
- Immunology
- Internal medicine
- Gastroenterology
- Biology
Selected publications
Acute Liver Failure Unmasking XIAP Deficiency in Very Early-Onset Inflammatory Bowel Disease
Journal of Human Immunity · 2025-04-25
articleOpen accessIntroduction X-linked inhibitor of apoptosis (XIAP) deficiency is a rare inborn error of immunity with particularly pleiomorphic spectrum of manifestations. These include hemophagocytic lymphohistiocytosis (HLH) with and without primary EBV infection, inflammatory bowel disease (IBD), uveitis, and episodic fevers. Liver manifestations have been rarely reported. Herein we describe severe acute liver failure (ALF) in a patient with very early-onset IBD found to have XIAP deficiency. Case Presentation The patient presented at 5 years of age with intermittent bloody stools, a perianal skin tag, and a history of intermittent fevers since infancy. Endoscopic evaluation at 6 years of age showed ulcerations and histologic colitis and granulomas. He was initiated on infliximab with good clinical response. Concurrent with his IBD evaluation, he was noted to have elevated liver enzymes. Twenty-one months after diagnosis, he developed fever, right upper quadrant pain, nausea, scleral icterus, liver enzymes to the 2000s, and cholestasis without synthetic dysfunction. EBV serologies were IgM positive. Transaminases improved spontaneously, but five days later, he re-presented with marked transaminitis, worsened cholestasis, and new synthetic dysfunction. He was transferred to a tertiary academic referral center ICU with high fevers and encephalopathy for management of ALF. HLH biomarkers were only modestly elevated: ferritin 290, Hgb 9.2, Plts 177, ANC 1620, fibrinogen 103, sIL-2Ra 1500, IFNg 128, and CXCL9 2959. EBV serologies and serial PCRs were negative. IL-18 was 12079. He was treated with IV glucocorticoids and emapalumab with stabilization. Flow cytometry showed XIAP deficiency, and anakinra was added with gradual resolution of liver dysfunction. Whole-genome sequencing revealed an XIAP frameshift variant (c.1021_1022del, p.(N341Yfs*8)). Emapalumab was replaced with ruxolitinib as the patient was preparing for hematopoietic stem cell transplant. Discussion XIAP-deficiency is remarkable for its range and severity of inflammatory phenotypes, including HLH and refractory IBD. Here we present a rare case of ALF in XIAP-deficiency. Antecedent, transient EBV infection was a likely trigger. His ALF improved with steroids, emapalumab, and IL-1 blockade. A high index of suspicion for immune dysregulation should be employed in all cases of VEO-IBD and/or liver failure. Figure 1. Laboratory trends and therapeutics. Day 0 represents initial hospitalization for acute liver failure.
Outcomes of Allogeneic Hematopoietic Stem Cell Transplant in Monogenic Inflammatory Bowel Disease
Clinical Gastroenterology and Hepatology · 2025-05-14 · 4 citations
articleOpen accessAlimentary Pharmacology & Therapeutics · 2025-01-15 · 7 citations
articleOpen accessSenior authorBACKGROUND: The pharmacokinetics of biologic agents can differ between children and adults with inflammatory bowel disease (IBD), often necessitating modified paediatric dosing strategies. AIMS: To define the exposure-response relationship of vedolizumab in the paediatric IBD VedoKids cohort including the effect of baseline clearance on deep biochemical remission (normal C-reactive protein [CRP]/erythrocyte sedimentation rate [ESR] and steroid-free remission) at 30 weeks, and to use population pharmacokinetic models to find the best matches between adult and paediatric pharmacokinetic profiles. METHODS: We sought a pharmacokinetic model on 312 serum vedolizumab concentrations from 129 children, assisted by a published adult model as a Bayesian prior. We employed the model for exposure-response evaluation and for investigating doses in paediatric patients to match the adult exposure at the labelled dose. RESULTS: At Week 30, 104/129 (81%) children (53% female and 47% Crohn disease) remained on vedolizumab, of whom 39 (31%) in the exposure-response evaluation were in deep biochemical remission. Increased baseline drug clearance was associated with lower deep biochemical remission rates at Week 30 based on ESR/CRP (OR 0.47 [95% CI 0.2-1.05, p = 0.08]) and calprotectin < 100 μg/g (OR 0.13 [95% CI 0.1-0.79, p < 0.05]). Higher weight and lower serum albumin were associated with increased clearance (p < 0.001). Simulation models found that, for children ≤ 30 kg, tiered fixed dosing regimens best matched adult drug concentrations. CONCLUSIONS: Drug clearance was strongly influenced by serum albumin. Baseline clearance predicted deep biochemical remission at Week 30. Further investigation is needed to better understand optimal dosing strategies-especially for lower-weight children receiving vedolizumab.
Alimentary Pharmacology & Therapeutics · 2025-02-08 · 18 citations
articleOpen accessBACKGROUND: There are scarce data available on upadacitinib in children with Crohn's disease (CD). AIM: To evaluate the effectiveness and safety of upadacitinib as an induction therapy in paediatric CD. METHODS: This was a multicentre retrospective study between 2022 and 2024 of children treated with upadacitinib for induction of remission of active CD conducted in 30 centres worldwide affiliated with the IBD Interest and Porto group of the ESPGHAN. We recorded demographic, clinical and laboratory data and adverse events (AEs) at week 8 post-induction. The analysis of the primary outcome was based upon the intention-to-treat (ITT) principle. RESULTS: We included 100 children (median age 15.8 [interquartile range 14.3-17.2]). All were previously treated with biologic therapies including 89 with ≥ 2 biologics. At the end of the 8-week induction period, we observed clinical response, clinical remission and corticosteroid- and exclusive enteral nutrition-free clinical remission (CFR) in 75%, 56% and 52%, respectively. By the end of induction, 68% had achieved normalisation of C-reactive protein, and 58% had faecal calprotectin (FC) < 150 mcg/g. There was combined CFR and FC remission in 13/31 children with available data at 8 weeks (13% of the ITT population). AEs were recorded in 24 children; the most frequent was acne in 12. Two AEs (severe acne and hypertriglyceridemia) led to discontinuation of therapy. CONCLUSION: Upadacitinib is an effective induction therapy for refractory paediatric CD. Efficacy should be weighed against the potential risks of AEs.
Gastroenterology · 2025-05-01
articleJournal of Human Immunity · 2025-04-25
articleOpen accessBackground Very early-onset inflammatory bowel disease (VEO-IBD), diagnosed before the age of 6, is a severe IBD subtype often associated with monogenic causes. Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is a critical regulator of inflammation and cell death. Biallelic pathogenic variants in the RIPK1 gene lead to RIPK1 deficiency, which disrupts these processes, causing immunodeficiency and autoinflammation, such as recurrent infections, early-onset IBD, and polyarthritis. Here, we report a VEO-IBD case associated with a novel variant in the RIPK1 gene. Case Presentation A 3-month-old male with suspected milk protein allergy presented with a 3-week history of hematochezia, intermittent fevers, vomiting, poor feeding, irritability, and large oral ulcers. Initial evaluation revealed anemia, elevated fecal calprotectin (&gt;3000 µg/g), and gastritis with erosions, lymphocytic infiltrates in the duodenum, crypt abscesses in the sigmoid colon, focal active colitis, and colon ulcers. Imaging demonstrated splenomegaly, and an infectious workup was negative. Initial management included nasogastric tube feeds, total parenteral nutrition, RBC transfusions, iron supplementation, metronidazole, and anti-inflammatory therapy with an IL-1 receptor antagonist. Despite treatment, the patient was readmitted 1 week later with worsening symptoms. Repeat endoscopy revealed severe ulcerations and a cobblestone appearance in the stomach, along with ulcers and cobblestoning in the duodenum and the colon. In response, therapy was transitioned to infliximab, to which the patient thus far has shown a good response. Diagnostic Workup The patient underwent genome sequencing, which identified a homozygous c.460-5C&gt;A variant in the RIPK1 gene, inherited from consanguineous unaffected parents. Reported as a variant of uncertain significance (VUS), it was predicted to disrupt the splice acceptor site of exon 5, likely resulting in aberrant splicing and loss of function. The pathogenicity of this previously unreported variant was validated through western blot analysis, which served as a crucial diagnostic tool in confirming the deficiency of RIPK1 in the patient. Discussion RIPK1 deficiency causes severe VEO-IBD. Western blot analysis confirmed a novel pathogenic variant. Anti-TNF therapy stabilized symptoms. Early diagnosis and personalized treatment are critical for management. Conclusion A novel RIPK1 variant highlights the importance of genetic testing and functional studies in VEO-IBD. Early recognition and targeted therapies improve outcomes in severe cases.
An Epigenetic Basis for Sustained Inflammatory Epithelial Progenitor Cell States in Crohn’s Disease
Cellular and Molecular Gastroenterology and Hepatology · 2025-10-21 · 1 citations
articleOpen accessBACKGROUND & AIMS: Defining consequential differences in intestinal epithelial stem cells in healthy humans vs those with inflammatory bowel disease (Crohn's disease and ulcerative colitis) is essential for the development of much needed therapies to restore the epithelial barrier and maintain its fidelity. METHODS: We used single-cell transcriptomic and epigenomic approaches in matched patient tissues and organoids to investigate epithelial gene expression and function in children with no pathological diagnosis in the lower gastrointestinal tract and healthy adults compared with those with Crohn's disease. RESULTS: We identify an inflammatory secretory progenitor (ISP) cell state present almost exclusively in patients with Crohn's disease compared with healthy subjects. ISPs exhibit gene expression profiles consistent with normal secretory progenitor cells but concomitantly express a suite of distinguishing pro-inflammatory genes. Mechanistically, ISPs exhibit open chromatin at ISP gene loci. Although ISP-specific genes are not expressed in intestinal stem cells, their chromatin is accessible in Crohn's disease stem cells, suggesting that ISP genes are epigenetically poised in stem cells and subsequently transcriptionally activated in ISPs in the presence of inflammatory stimuli. Consistently, Crohn's disease colonoids exhibit sustained ISP gene expression that can be elicited further with pro-inflammatory cytokines or via co-culture with pro-inflammatory macrophages. CONCLUSIONS: We have defined differences in the epithelial stem and progenitor compartment of patients with Crohn's disease that suggest aberrant stem cell differentiation and inflammatory gene expression arise and persist during disease.
The Journal of Pediatrics · 2025-06-05 · 2 citations
articleOpen access1st authorCorrespondingThe Journal of Pediatrics · 2025-10-01
letter1st authorCorrespondingJournal of Crohn s and Colitis · 2025-01-01
articleAbstract Background Data on upadacitinib therapy in children with ulcerative colitis (UC) or unclassified inflammatory bowel disease (IBD-U) are scarce. We aimed to evaluate the effectiveness and safety of upadacitinib as an induction therapy in pediatric UC or IBD-U. Methods In this multicenter retrospective study, children treated with upadacitinib for induction of remission of active UC or IBD-U from 30 centers worldwide were enrolled. Demographic, clinical and laboratory data as well as adverse events (AEs) were recorded at week 8 post induction. Results One hundred children were included (90 UC and 10 IBD-U, median age 15.6 [interquartile range 13.3–17.1] years). Ninety-eight were previously treated with biologic therapies, and 76 were treated with ≥2 biologics. At the end of the 8-week induction period, clinical response, clinical remission, and corticosteroid-free clinical remission (CFR) were observed in 84%, 62%, and 56% of the children, respectively. The median pediatric ulcerative colitis activity index (PUCAI) decreased from 45 [33-60] to 0 [0-20] at week 8 (p &lt; 0.001; Figure 1). Normal C-reactive protein and fecal calprotectin (FC) &lt;150 mcg/g were achieved in 75% and 50%, respectively. The median FC level declined from 1645 [628-2263] mcg/g at baseline to 140 [33-669] mcg/g at week 8 (p &lt; 0.001) (Figure 1).Combined CFR and FC remission was observed in 18/46 (39%) children with available data at 8 weeks. AEs were recorded in 37 children, including one serious AE of an appendiceal neuroendocrine tumor. The most frequent AEs were hyperlipidemia (n=13), acne (n=12), and infections (n=10, five of whom with herpes viruses). Conclusion In this largest and first multicenter study on a cohort of children with UC treated with upadacitinib, upadacitinib was an effective induction therapy for refractory pediatric UC and IBD-U. Efficacy should be weighed against the potential risks of AEs.
Recent grants
Frequent coauthors
- 104 shared
Judith R. Kelsen
- 45 shared
Kathleen E. Sullivan
Children's Hospital of Philadelphia
- 40 shared
Marcella Devoto
National Research Council
- 35 shared
Noor Dawany
- 30 shared
Trusha Patel
Children's Hospital of Philadelphia
- 29 shared
Robert N. Baldassano
- 19 shared
Kyle Bittinger
California University of Pennsylvania
- 16 shared
Gary D. Wu
University of Pennsylvania
Labs
Maire A Conrad LabPI
Education
- 2021
MS, Translational Research
Perelman School of Medicine at the University of Pennsylvania
- 2010
M.D.
Drexel University College of Medicine
- 2004
M.S. Human Nutrition
Columbia University College of Physicians and Surgeons
- 2003
BS Biology
The College of New Jersey
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