Personalised Treatment For Cystic Fibrosis Patients With Ultra-rare CFTR Mutations (and beyond)

Project Information

HIT-CF

Grant agreement ID: 755021

DOI

10.3030/755021

Project closed

EC signature date 28 November 2017

Start date 1 January 2018

End date 30 June 2025

Funded under

• SOCIETAL CHALLENGES - Health, demographic change and well-being

Total cost

€ 6 701 365,00

EU contribution

€ 6 701 365,00

Coordinated by

UNIVERSITAIR MEDISCH CENTRUM UTRECHT
Netherlands

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Deliverables

Other (1)

A suite of branded template material and a website

A suite of branded template material and a website for dissemination and public awareness of the HIT-CF project

Publications

Peer reviewed articles (23)

Assessment of Distinct Electrophysiological Parameters in Rectal Biopsies for the Choice of the Best Diagnosis/Prognosis Biomarkers for Cystic Fibrosis

Author(s): Iris A. L. Silva, Aires Duarte, Fernando A. L. Marson, Raquel Centeio, Tereza Doušová, Karl Kunzelmann, Margarida D. Amaral
Published in: Frontiers in Physiology, Issue 11, 2020, ISSN 1664-042X
Publisher: Frontiers Research Foundation
DOI: 10.3389/fphys.2020.604580

Centralized intestinal organoid generation is a feasible and safe approach for personalized medicine as demonstrated in the HIT-CF Europe Organoid Study

Author(s): Marlou C. Bierlaagh, Peter van Mourik, Annelotte M. Vonk, Johanna Pott, Danya Muilwijk, Gitte Berkers, Bente L. Aalbers, Frank P. Vleggaar, Sabine Michel, Sylvia F. Boj, Robert G.J. Vries, Jeffrey M. Beekman, Cornelis K. van der Ent
Published in: Journal of Cystic Fibrosis, 2024, ISSN 1569-1993
Publisher: Elsevier BV
DOI: 10.1016/j.jcf.2024.04.016

Responsible use of organoids in precision medicine: the need for active participant involvement

Author(s): Michael A. Lensink, Karin R. Jongsma, Sarah N. Boers, Jacquelien J. Noordhoek, Jeffrey M. Beekman, Annelien L. Bredenoord
Published in: Development, Issue 147/7, 2020, ISSN 0950-1991
Publisher: The Company of Biologists Ltd.
DOI: 10.1242/dev.177972

Organoids for personalized treatment of Cystic Fibrosis: Professional perspectives on the ethics and governance of organoid biobanking

Author(s): Michael A. Lensink, Sarah N. Boers, Karin R. Jongsma, Sarah E. Carter, Cornelis K. van der Ent, Annelien L. Bredenoord
Published in: Journal of Cystic Fibrosis, Issue 20/3, 2021, Page(s) 443-451, ISSN 1569-1993
Publisher: Elsevier BV
DOI: 10.1016/j.jcf.2020.11.015

Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G

Author(s): Iris A.L. Silva, Tereza Doušová, Sofia Ramalho, Raquel Centeio, Luka A. Clarke, Violeta Railean, Hugo M. Botelho, Andrea Holubová, Iveta Valášková, Jiunn-Tyng Yeh, Tzyh-Chang Hwang, Carlos M. Farinha, Karl Kunzelmann, Margarida D. Amaral
Published in: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, Issue 1866/11, 2020, Page(s) 165905, ISSN 0925-4439
Publisher: Elsevier BV
DOI: 10.1016/j.bbadis.2020.165905

What Can RNA-Based Therapy Do for Monogenic Diseases?

Author(s): Luka A. Clarke, Margarida D. Amaral
Published in: Pharmaceutics, Issue 15, 2024, Page(s) 260, ISSN 1999-4923
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/pharmaceutics15010260

Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators

Author(s): Violeta Railean, Cláudia S. Rodrigues, Sofia S. Ramalho, Iris A. L. Silva, Jan Bartosch, Carlos M. Farinha, Ines Pankonien, Margarida D. Amaral
Published in: Frontiers in Molecular Biosciences, Issue 10, 2023, Page(s) not relevant, ISSN 2296-889X
Publisher: Frontiers Media SA
DOI: 10.3389/fmolb.2023.1155705

What Role Does CFTR Play in Development, Differentiation, Regeneration and Cancer?

Author(s): Margarida D. Amaral, Margarida C. Quaresma, Ines Pankonien
Published in: International Journal of Molecular Sciences, Issue 21, 2024, Page(s) 3133, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms21093133

Measuring cystic fibrosis drug responses in organoids derived from 2D differentiated nasal epithelia

Author(s): Gimano D. Amatngalim, Lisa W. Rodenburg, Bente L. Aalbers, Henriette H. M. Raeven, Ellen M. Aarts, Iris A.L. Silva, Wilco Nijenhuis, Sacha Vrendenbarg, Evelien Kruisselbrink, Jesse E. Brunsveld, Cornelis M. van Drunen, Sabine Michel, Karin M. de Winter-de Groot, Harry G. Heijerman, Lukas C. Kapitein, Magarida D. Amaral, Cornelis K. van der Ent, Jeffrey M. Beekman
Published in: Life Science Alliance, 2022, ISSN 2575-1077
Publisher: Cold Spring Harbor Laboratory
DOI: 10.1101/2021.07.20.453105

Better governance starts with better words: why responsible human tissue research demands a change of language

Author(s): Michael A. Lensink, Karin R. Jongsma, Sarah N. Boers, Annelien L. Bredenoord
Published in: BMC Medical Ethics, Issue 23, 2022, ISSN 1472-6939
Publisher: BioMed Central
DOI: 10.1186/s12910-022-00823-7

Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country

Author(s): Luiz Vicente Ribeiro Ferreira da Silva Filho, Paulo José Cauduro Maróstica, Rodrigo Abensur Athanazio, Francisco José Caldeira Reis, Neiva Damaceno, Angela Tavares Paes, Adilson Yuuji Hira, David Schlesinger, Fernando Kok, Margarida D. Amaral, Mara Lícia Machado Antunes, Lilian Cristina Ferreira Andries, Virginia Auxiliadora Freitas de Castro, Fabíola Villac Adde, Maria Fernanda Botelho Herna
Published in: Journal of Cystic Fibrosis, Issue 20, 2024, Page(s) 473-484, ISSN 1569-1993
Publisher: Elsevier BV
DOI: 10.1016/j.jcf.2020.08.007

Intestinal organoids to model cystic fibrosis

Author(s): Peter van Mourik, Jeffrey M. Beekman, Cornelis K. van der Ent
Published in: European Respiratory Journal, Issue 54/1, 2019, Page(s) 1802379, ISSN 0903-1936
Publisher: European Respiratory Society
DOI: 10.1183/13993003.02379-2018

Measuring cystic fibrosis drug responses in organoids derived from 2D differentiated nasal epithelia

Author(s): Gimano D Amatngalim, Lisa W Rodenburg, Bente L Aalbers, Henriette HM Raeven, Ellen M Aarts, Dounia Sarhane, Sacha Spelier, Juliet W Lefferts, Iris AL Silva, Wilco Nijenhuis, Sacha Vrendenbarg, Evelien Kruisselbrink, Jesse E Brunsveld, Cornelis M van Drunen, Sabine Michel, Karin M de Winter-de Groot, Harry G Heijerman, Lukas C Kapitein, Magarida D Amaral, Cornelis K van der Ent, Jeffrey M Beekman
Published in: Life Science Alliance, Issue 5, 2024, Page(s) e202101320, ISSN 2575-1077
Publisher: https://www.life-science-alliance.org/
DOI: 10.26508/lsa.202101320

Protocol for Application, Standardization and Validation of the Forskolin-Induced Swelling Assay in Cystic Fibrosis Human Colon Organoids

Author(s): Annelotte M. Vonk, Peter van Mourik, Anabela S. Ramalho, Iris A.L. Silva, Marvin Statia, Evelien Kruisselbrink, Sylvia W.F. Suen, Johanna F. Dekkers, Frank P. Vleggaar, Roderick H.J. Houwen, Jasper Mullenders, Sylvia F. Boj, Robert Vries, Margarida D. Amaral, Kris de Boeck, Cornelis K. van der Ent, Jeffrey M. Beekman
Published in: STAR Protocols, Issue 1/1, 2020, Page(s) 100019, ISSN 2666-1667
Publisher: Cell Press
DOI: 10.1016/j.xpro.2020.100019

CFTR Function Restoration upon Elexacaftor/Tezacaftor/Ivacaftor Treatment in Patient-Derived Intestinal Organoids with Rare CFTR Genotypes

Author(s): Juliet W. Lefferts, Marlou C. Bierlaagh, Suzanne Kroes, Natascha D. A. Nieuwenhuijze, Heleen N. Sonneveld van Kooten, Paul J. Niemöller, Tibo F. Verburg, Hettie M. Janssens, Danya Muilwijk, Sam F. B. van Beuningen, Cornelis K. van der Ent, Jeffrey M. Beekman
Published in: International Journal of Molecular Sciences, Issue 24, 2023, Page(s) 14539, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms241914539

Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country

Author(s): Luiz Vicente Ribeiro Ferreira da Silva Filho, Paulo José Cauduro Maróstica, Rodrigo Abensur Athanazio, Francisco José Caldeira Reis, Neiva Damaceno, Angela Tavares Paes, Adilson Yuuji Hira, David Schlesinger, Fernando Kok, Margarida D. Amaral, Mara Lícia Machado Antunes, Lilian Cristina Ferreira Andries, Virginia Auxiliadora Freitas de Castro, Fabíola Villac Adde, Maria Fernanda Botelho Herna
Published in: Journal of Cystic Fibrosis, Issue 20/3, 2021, Page(s) 473-484, ISSN 1569-1993
Publisher: Elsevier BV
DOI: 10.1016/j.jcf.2020.08.007

CFTR, Cell Junctions and the Cytoskeleton

Author(s): Ines Pankonien, Margarida C. Quaresma, Cláudia S. Rodrigues, Margarida D. Amaral
Published in: International Journal of Molecular Sciences, Issue 23, 2024, Page(s) 2688, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms23052688

Pharmacological Modulation of Ion Channels for the Treatment of Cystic Fibrosis

Author(s): Madalena C Pinto, Iris AL Silva, Miriam F Figueira, Margarida D Amaral, Miquéias Lopes-Pacheco
Published in: Journal of Experimental Pharmacology, Issue Volume 13, 2021, Page(s) 693-723, ISSN 1179-1454
Publisher: Informa UK Limited
DOI: 10.2147/jep.s255377

Repeatability and reproducibility of the Forskolin-induced swelling (FIS) assay on intestinal organoids from people with Cystic Fibrosis

Author(s): Marlou C. Bierlaagh, Anabela S. Ramalho, Iris A.L. Silva, Annelotte M. Vonk, Rutger M. van den Bor, Peter van Mourik, Johanna Pott, Sylvia W.F. Suen, Sylvia F. Boj, Robert G.J. Vries, Elise Lammertyn, François Vermeulen, Margarida D. Amaral, Kris de Boeck, Cornelis K. van der Ent, Jeffrey M. Beekman
Published in: Journal of Cystic Fibrosis, 2024, ISSN 1569-1993
Publisher: Elsevier BV
DOI: 10.1016/j.jcf.2024.04.014

WS09.1 First results of the HIT-CF ex vivo organoid study show rescue of CFTR with ultra-rare mutations by a novel triple combination of CFTR modulators

Author(s): I.A.L. Silva, A.S. Ramalho, A.M. Vonk, M. Bierlaagh, S.W.F. Suen, J. Pott, M.D. Amaral, F. Vermeulen, C. De Boeck, J.M. Beekman, K. van der Ent
Published in: Journal of Cystic Fibrosis, Issue 20, 2023, Page(s) S17, ISSN 1569-1993
Publisher: Elsevier BV
DOI: 10.1016/s1569-1993(21)00963-2

Rationale and design of the HIT-CF organoid study: stratifying cystic fibrosis patients based on intestinal organoid response to different CFTR-modulators

Author(s): Peter van Mourik, Sabine Michel, Annelotte M. Vonk, Jeffrey M. Beekman, Cornelis K. van der Ent, Hilde De Keyser, Elise Lammertyn, Silke van Koningsbruggen-Rietschel, Lutz Naehrlich, Judith Pool, Marc van de Craen, Begoña Aguilera, Johanna Pott, Rob G. J. Vries, Sylvia F. Boj, Kris De Boeck, François Vermeulen, Anabela S. Ramalho, Iris A. L. Silva, Margarida D. Amaral, Matthew Goddeeris, Geoffre
Published in: Translational Medicine Communications, Issue 5/1, 2020, ISSN 2396-832X
Publisher: BMC - part of springer Nature
DOI: 10.1186/s41231-020-00060-3

Personalized Medicine Based on Nasal Epithelial Cells: Comparative Studies with Rectal Biopsies and Intestinal Organoids

Author(s): Iris A. L. Silva, Violeta Railean, Aires Duarte, Margarida D. Amaral
Published in: Journal of Personalized Medicine, Issue 11/5, 2021, Page(s) 421, ISSN 2075-4426
Publisher: MDPI
DOI: 10.3390/jpm11050421

Intestinal organoids to model cystic fibrosis

Author(s): Peter van Mourik, Jeffrey M. Beekman, Cornelis K. van der Ent
Published in: European Respiratory Journal, Issue 54, 2025, Page(s) 1802379, ISSN 0903-1936
Publisher: European Respiratory Society
DOI: 10.1183/13993003.02379-2018

Thesis and dissertations (1)

Mini-organs, maximizing value:

Author(s): null null, Michael Anthony Lensink
Published in: Mini-organs, maximizing value, 2022, ISBN 978-94-6416-776-4
Publisher: Utrecht University Library
DOI: 10.33540/1230