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)
DOI
PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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
Typ der Hochschulschrift
Herausgeber
Korrespondenzautor
Schlagwörter
Chronic Granulomatous-disease; Hematopoietic-cell Transplantation; Immune Dysregulation; Ulcerative-colitis; Interleukin-10 Receptor; Genetic Risk; Onset; Therapy; Mutations; Blockade
Keywords plus
ISSN (print) / ISBN
1759-5045
e-ISSN
1759-5053
ISBN
Bandtitel
Konferenztitel
Konferzenzdatum
Konferenzort
Konferenzband
Quellenangaben
Band: 20,
Heft: 12,
Seiten: 810-828
Artikelnummer: ,
Supplement: ,
Reihe
Verlag
Nature Publishing Group
Verlagsort
Heidelberger Platz 3, Berlin, 14197, Germany
Hochschule
Hochschulort
Fakultät
Veröffentlichungsdatum
0000-00-00
Anmeldedatum
0000-00-00
Anmelder/Inhaber
weitere Inhaber
Anmeldeland
Priorität
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Translational Genomics (ITG)
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