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Uhlig, H.H.* ; Booth, C.* ; Cho, J.* ; Dubinsky, M.* ; Griffiths, A.M.* ; Grimbacher, B.* ; Hambleton, S.* ; Huang, Y.* ; Jones, K.* ; Kammermeier, J.* ; Kanegane, H.* ; Koletzko, S.* ; Kotlarz, D.M. ; Klein, C.* ; Lenardo, M.J.* ; Lo, B.* ; McGovern, D.P.B.* ; Ozen, A.* ; de Ridder, L.* ; Ruemmele, F.* ; Shouval, D.S.* ; Snapper, S.B.* ; Travis, S.P.* ; Turner, D.* ; Wilson, D.C.* ; Muise, A.M.*

Precision medicine in monogenic inflammatory bowel disease: Proposed mIBD REPORT standards.

Nat. Rev. Gastroenterol. Hepatol. 20, 810-828 (2023)
Postprint DOI PMC
Open Access Green
Owing to advances in genomics that enable differentiation of molecular aetiologies, patients with monogenic inflammatory bowel disease (mIBD) potentially have access to genotype-guided precision medicine. In this Expert Recommendation, we review the therapeutic research landscape of mIBD, the reported response to therapies, the medication-related risks and systematic bias in reporting. The mIBD field is characterized by the absence of randomized controlled trials and is dominated by retrospective observational data based on case series and case reports. More than 25 off-label therapeutics (including small-molecule inhibitors and biologics) as well as cellular therapies (including haematopoietic stem cell transplantation and gene therapy) have been reported. Heterogeneous reporting of outcomes impedes the generation of robust therapeutic evidence as the basis for clinical decision making in mIBD. We discuss therapeutic goals in mIBD and recommend standardized reporting (mIBD REPORT (monogenic Inflammatory Bowel Disease Report Extended Phenotype and Outcome of Treatments) standards) to stratify patients according to a genetic diagnosis and phenotype, to assess treatment effects and to record safety signals. Implementation of these pragmatic standards should help clinicians to assess the therapy responses of individual patients in clinical practice and improve comparability between observational retrospective studies and controlled prospective trials, supporting future meta-analysis.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Chronic Granulomatous-disease; Hematopoietic-cell Transplantation; Immune Dysregulation; Ulcerative-colitis; Interleukin-10 Receptor; Genetic Risk; Onset; Therapy; Mutations; Blockade
Sprache englisch
Veröffentlichungsjahr 2023
HGF-Berichtsjahr 2023
ISSN (print) / ISBN 1759-5045
e-ISSN 1759-5053
Zeitschrift Nature Reviews - Gastroenterology & Hepatology
Quellenangaben Band: 20, Heft: 12, Seiten: 810-828 Artikelnummer: , Supplement: ,
Verlag Nature Publishing Group
Verlagsort Heidelberger Platz 3, Berlin, 14197, Germany
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Translational Genomics (ITG)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-506700-001
Förderungen NIDDK NIH
CIHR Foundation
Canada Research Chair (Tier 1) in Paediatric IBD
NIDDK
Children's Rare Disease Cohort Initiative
Egan Family Foundation Chair
Wolpow Family Chair in IBD Treatment and Research
BMBF
GOSH NIHR Biomedical Research Centre, London
NIHR Oxford Biomedical Research Centre, University of Oxford
Leona M. and Harry B. Helmsley Charitable Trust
Chronic Granulomatous Disorder Society (CGD Society)
XLP Research Trust
Crohn's in Childhood Research Association (CICRA)
The authors thank patients and their families who have shared their experiences and contributed to research. The authors thank the Crohn's in Childhood Research Association (CICRA), the XLP Research Trust and the Chronic Granulomatous Disorder Society (CG
DOI 10.1038/s41575-023-00838-4
WOS ID 001079778100003
Scopus ID 85173109175
PubMed ID 37789059
Erfassungsdatum 2023-10-18
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