Outcomes of Allogeneic Hematopoietic Stem Cell Transplant in Monogenic Inflammatory Bowel Disease.

IF 11.6 1区 医学 Q1 GASTROENTEROLOGY & HEPATOLOGY
Alyssa Baccarella, Trusha Patel, Maire A Conrad, Marina Macchi, Brooke Boyer, Oliver Pickering, Yelizaveta Borodyanskaya, Shreya Gaddipati, Maya Cohen, Andrea Cubero, Noor Dawany, Jennifer Heimall, Nancy Bunin, Kathleen E Sullivan, Judith R Kelsen
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Abstract

Background & aims: Monogenic inflammatory bowel disease (IBD) can result in inborn errors of immunity and intestinal epithelial cell dysfunction, more commonly seen in patients with very early onset IBD (VEO-IBD). Hematopoietic stem cell transplant (HSCT) has emerged as an effective treatment for a subset of patients with monogenic IBD. We sought to evaluate the efficacy and safety of HSCT in these patients. We hypothesized that HSCT will lead to IBD medication-free remission or significant improvement of disease.

Methods: This was a single-center, retrospective study of children with monogenic IBD who underwent HSCT at The Children's Hospital of Philadelphia from 2012 to 2022. The primary outcome was IBD medication-free sustained remission, measured by disease activity index. Secondary outcomes included all-cause mortality, growth, hospitalizations, infections, and HSCT-associated complications.

Results: Thirty-eight patients with monogenic IBD were identified as eligible for HSCT, with 25 undergoing HSCT as therapy for IBD during the study period. There was 100% survival at a median follow-up of 3 years. Prior to transplant, 76% of patients received immunosuppression, and 20% underwent IBD-related surgery. At most recent follow-up, 92% of patients achieved sustained medication-free remission of IBD and 60% with prior ostomy underwent re-anastomosis. There was significant improvement in growth, hospital days, and severe infections.

Conclusion: HSCT resulted in IBD medication-free remission and reduction in disease-associated complications. This highlights the strength of genetic evaluation in patients with VEO-IBD or refractory IBD and consideration of HSCT, which can be curative and lifesaving in patients with monogenic defects involving immune dysfunction.

同种异体造血干细胞移植治疗单基因炎性肠病的疗效。
背景和目的:单基因炎性肠病(IBD)可导致先天性免疫错误和肠上皮细胞功能障碍,更常见于极早发性IBD (VEO-IBD)患者。造血干细胞移植(HSCT)已成为治疗单基因IBD患者的有效方法。我们试图评估HSCT在这些患者中的疗效和安全性。我们假设造血干细胞移植将导致IBD无药物缓解或疾病的显著改善。方法:这是一项单中心、回顾性研究,研究对象是2012-2022年在费城儿童医院接受HSCT治疗的单基因IBD儿童。主要结局是IBD无药物持续缓解,以疾病活动指数衡量。次要结局包括全因死亡率、生长、住院、感染和造血干细胞移植相关并发症。结果:38例单基因IBD患者被确定为符合HSCT条件,其中25例在研究期间接受了HSCT作为IBD治疗。中位随访3年生存率为100%。移植前,76%的患者接受了免疫抑制,20%的患者接受了ibd相关手术。在最近的随访中,92%的IBD患者实现了持续的无药物缓解,60%的既往造口患者进行了再次吻合。在生长、住院天数和严重感染方面有显著改善。结论:HSCT导致IBD无药物缓解和疾病相关并发症的减少。这凸显了在veo型IBD或难治性IBD患者中进行基因评估的力量,并考虑了HSCT,这可以治愈和挽救涉及免疫功能障碍的单基因缺陷患者的生命。
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来源期刊
CiteScore
16.90
自引率
4.80%
发文量
903
审稿时长
22 days
期刊介绍: Clinical Gastroenterology and Hepatology (CGH) is dedicated to offering readers a comprehensive exploration of themes in clinical gastroenterology and hepatology. Encompassing diagnostic, endoscopic, interventional, and therapeutic advances, the journal covers areas such as cancer, inflammatory diseases, functional gastrointestinal disorders, nutrition, absorption, and secretion. As a peer-reviewed publication, CGH features original articles and scholarly reviews, ensuring immediate relevance to the practice of gastroenterology and hepatology. Beyond peer-reviewed content, the journal includes invited key reviews and articles on endoscopy/practice-based technology, health-care policy, and practice management. Multimedia elements, including images, video abstracts, and podcasts, enhance the reader's experience. CGH remains actively engaged with its audience through updates and commentary shared via platforms such as Facebook and Twitter.
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