Therapies for Renal Ciliopathies

Project Information

TheRaCil

Grant agreement ID: 101080717

DOI

10.3030/101080717

EC signature date 4 May 2023

Start date 1 July 2023

End date 30 June 2027

Funded under

• Health

Total cost

€ 7 425 446,80

EU contribution

€ 7 425 446,80

Coordinated by

IMAGINE INSTITUT DES MALADIES GENETIQUES NECKER ENFANTS MALADES FONDATION
France

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

Data Management Plan (2)

Data Management Plan

Document describing the data management plan that will be produced and provided

Data Management Plan 2

We will revise the data management plan at month 18

Other (1)

PELSI Advisory Board

stakeholder's opinion reports and guidelines with clinical, EMA reports for ODD, PA and Biomarkers qualification.

Websites, patent fillings, videos etc. (1)

Project website

Public website dedicated to the TheRaCil project

Publications

Peer reviewed articles (22)

Metabolic reprogramming in polycystic kidney disease and other renal ciliopathies

Author(s): Sara Clerici; Alessandra Boletta
Published in: EMBO Molecular Medicine, 2025, ISSN 1757-4684
Publisher: Nature Publishing Group UK
DOI: 10.1038/S44321-025-00239-X

Urinary Dickkopf-3 Reflects Disease Severity and Predicts Short-Term Kidney Function Decline in Renal Ciliopathies

Author(s): Mareike Dahmer-Heath, Joachim Gerß, Danilo Fliser, Max Christoph Liebau, Thimoteus Speer, Anna-Katharina Telgmann, Kathrin Burgmaier, Petra Pennekamp, Lars Pape, Franz Schaefer, Martin Konrad, Jens Christian König
Published in: Kidney International Reports, Issue 10, 2024, ISSN 2468-0249
Publisher: Elsevier BV
DOI: 10.1016/J.EKIR.2024.09.023

The primary cilium at the helm: gatekeeper of TGF-β superfamily signaling in development, homeostasis, and disease

Author(s): Cristian Herrera-Cid, Oskar Kaaber Thomsen, Linéa Désarbre, Rylee Blair Marin, Canan Doganli, Lotte Bang Pedersen, Lars Allan Larsen, Søren Tvorup Christensen
Published in: Biochemical Society Transactions, Issue 54, 2026, ISSN 0300-5127
Publisher: Portland Press Ltd.
DOI: 10.1042/BST20253108

ALIX and ITCH localize to the base of primary cilia and negatively regulate ciliary Polycystin-2 levels

Author(s): Christina Rahlff Berggreen, Julie Laplace, Fabiola Campestre, Anna-Louise With Petersen, Anna Maria Fixdahl, Benjamin Mary, Saba Ghazanfar, Geyi Li, Lotta Elisabeth Wagner, Csenge K. Rezi, Mohamed Chamlali, Zeinab Anvarian, Søren T. Christensen, Helen L. May-Simera, Lotte B. Pedersen
Published in: BMC Molecular and Cell Biology, Issue 27, 2026, ISSN 2661-8850
Publisher: Springer Science and Business Media LLC
DOI: 10.1186/S12860-026-00571-1

Systematic review of outcomes reported in clinical research on nephronophthisis: how do they align with SONG Kids priorities?

Author(s): Mareike Dahmer-Heath, Sven Optenhövel, Tanja Hechler, Martin Konrad, Jens König
Published in: Pediatric Nephrology, Issue 41, 2025, ISSN 0931-041X
Publisher: Springer Science and Business Media LLC
DOI: 10.1007/S00467-025-06912-0

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis

Author(s): Alice Tata, Guillaume Rocha, Marguerite Hureaux, Alice S. Serafin, Esther Porée, Lucie Menguy, Nicolas Goudin, Nicolas Cagnard, Lilian Gréau, Marc Fila, Luis Briseño-Roa, Jean-Philippe Annereau, Sophie Saunier, Alexandre Benmerah
Published in: Kidney International Reports, 2025, ISSN 2468-0249
Publisher: Elsevier BV
DOI: 10.1016/J.EKIR.2025.04.060

ZDHHC5 interacts physically and functionally with DLG1 at primary cilia and regulates ciliary length and kidney morphology

Author(s): Csenge Kata Rezi, Canan Doganli, Mariam G. Aslanyan, Mohamed Chamlali, Benjamin Mary, Nina Lykke Callesen, Rokeah Rafat Kamel Abu-Khesha, Gaurav D. Diwan, Robert B. Russell, Esben Lorentzen, Karsten Boldt, Ronald Roepman, Lars Allan Larsen, Lotte B. Pedersen
Published in: Frontiers in Cell and Developmental Biology, Issue 14, 2026, ISSN 2296-634X
Publisher: Frontiers Media SA
DOI: 10.3389/FCELL.2026.1805468

Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies

Author(s): Ellen M. Aarts, Diederik S. Laman Trip, Ruxandra Neatu, Charlotte G. Martin, Beth Riley, Alison Kraus, Abigail Green, Mohamed H. Al-Hamed, Rachel E. Armstrong, John A. Sayer, Ruxandra Bachmann-Gagescu, Pedro Beltrao
Published in: Genome Biology, Issue 27, 2026, ISSN 1474-760X
Publisher: Springer Science and Business Media LLC
DOI: 10.1186/S13059-025-03899-7

A risk score to predict kidney survival in patients with autosomal recessive polycystic kidney disease at the age of two months

Author(s): Kathrin Burgmaier, Samuel Kilian, Klaus Arbeiter, Bahriye Atmis, Olivia Boyer, Anja Buescher, Ismail Dursun, Florian Erger, Marc Fila, Matthias Galiano, Ibrahim Gokce, Karsten Haeffner, Dieter Haffner, Nakysa Hooman, Guenter Klaus, Jens König, Bärbel Lange-Sperandio, Matko Marlais, Laura Massella, Djalila Mekahli, Monika Miklaszewska, Gordana Miloševski-Lomić, Lukasz Obrycki, Bruno Ranchin, Barbara Seitz, Stella Stabouli, Yilmaz Tabel, Katarzyna Taranta-Janusz, Lutz Thorsten Weber, Marcus Weitz, Elke Wühl, Alev Yilmaz, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau
Published in: Kidney International, 2025, ISSN 0085-2538
Publisher: Elsevier BV
DOI: 10.1016/J.KINT.2025.01.023

KIF13B controls ciliary protein content by promoting endocytic retrieval and suppressing release of large extracellular vesicles from cilia

Author(s): Csenge K. Rezi, Alina Frei, Fabiola Campestre, Karsten Boldt, Benjamin Mary, Anna Maria Fixdahl, Anna-Louise With Petersen, Aurelien Sicot, Christina R. Berggreen, Julie Laplace, Søren L. Johansen, Julie K.T. Sørensen, Mohamed Chamlali, Martin W. Berchtold, Søren T. Christensen, Zeinab Anvarian, Helen L. May-Simera, Lotte B. Pedersen
Published in: Current Biology, Issue 35, 2025, ISSN 0960-9822
Publisher: Elsevier BV
DOI: 10.1016/J.CUB.2025.08.022

Polycystic Kidney Disease in Children: The Current Status and the Next Horizon

Author(s): Melissa A. Cadnapaphornchai, Katherine M. Dell, Charlotte Gimpel, Lisa M. Guay-Woodford, Ashima Gulati, Erum A. Hartung, Max C. Liebau, Andrew J. Mallett, Matko Marlais, Djalila Mekahli, Alixandra Piccirilli, Tomas Seeman, Kristin Tindal, Paul J.D. Winyard
Published in: American Journal of Kidney Diseases, 2025, ISSN 0272-6386
Publisher: Elsevier BV
DOI: 10.1053/J.AJKD.2025.01.022

Urinary peptide signature distinguishes autosomal recessive polycystic kidney disease from other causes of chronic kidney disease

Author(s): Kathrin Burgmaier, Bénédicte Buffin-Meyer, Julie Klein, Brian Becknell, Daryl McLeod, Jan Boeckhaus, Oliver Gross, Claudia Dafinger, Justyna Siwy, Stéphane Decramer, Franz Schaefer, Max C Liebau, Joost P Schanstra
Published in: Clinical Kidney Journal, Issue 18, 2025, ISSN 2048-8505
Publisher: Oxford University Press (OUP)
DOI: 10.1093/CKJ/SFAF093

Pathogenic PHIP Variants are Variably Associated With CAKUT

Author(s): Jonathan de Fallois; Tobias Sieckmann; Ria Schönauer; Friederike Petzold; Johannes Münch; Melissa Pauly; Georgia Vasileiou; Christin Findeisen; Antje Kampmeier; Alma Kuechler; André Reis; Eva Decker; Carsten Bergmann; Konrad Platzer; Velibor Tasic; Karin Michaela Kirschner; Shirlee Shril; Friedhelm Hildebrandt; Wendy K. Chung; Jan Halbritter
Published in: Kidney International Reports, 2024, ISSN 2468-0249
Publisher: Elsevier BV
DOI: 10.1016/J.EKIR.2024.05.024

Primary cilia signalling at a glance

Author(s): Dagmar Wachten, Søren Tvorup Christensen
Published in: Journal of Cell Science, Issue 138, 2025, ISSN 0021-9533
Publisher: The Company of Biologists
DOI: 10.1242/JCS.264187

Urinary renal epithelial cells can be used for <i>NPHP1</i> phenotyping and a personalized therapeutic strategy

Author(s): Praveen Dhondurao Sudhindar, Eric Olinger, Zachary T. Sentell, Holly Mabillard, Barbora Dicka, Katrina Wood, Dominic Rutland, Catherine Collins, Marco Trevisan-Herraz, John A. Sayer, Juliana E. Arcila-Galvis
Published in: Journal of Cell Science, Issue 138, 2025, ISSN 0021-9533
Publisher: The Company of Biologists
DOI: 10.1242/JCS.264141

Qualitative Analysis and Comparison of Externally Led Patient-Focused Drug Development Concepts for Autosomal Recessive Polycystic Kidney Disease Against SONG Initiatives

Author(s): Belle Soyfer, Sorin Fedeles, Wendy Ruyle, Elise Hoover, Max C. Liebau, Erum A. Hartung, Katherine M. Dell, Lisa M. Guay-Woodford, Ronald D. Perrone, Dorothee Oberdhan
Published in: Kidney Medicine, Issue 7, 2025, ISSN 2590-0595
Publisher: Elsevier BV
DOI: 10.1016/J.XKME.2025.101110

Artificial intelligence and perspective for rare genetic kidney diseases

Author(s): Xiaoyi Chen, Anita Burgun, Olivia Boyer, Bertrand Knebelmann, Nicolas Garcelon
Published in: Kidney International, Issue 108, 2025, ISSN 0085-2538
Publisher: Elsevier BV
DOI: 10.1016/J.KINT.2025.03.033

Ciliogenic pancreatopathy reveals a link between ciliopathies and exocrine pancreatic disease

Author(s): Memoona Rajput, Lydie Flasse, Esther Porée, Océane Pointeau, Alice Serafin, Nicolas Papadopoulos, Younes Achouri, Joel Moro, Axelle Loriot, Michaela Wilsch-Brauninger, Valentine Gillion, Nathalie Godefroid, Charlotte Bodson, Leyre Lopez Muneta, Constance Depestel, Marie Morel, Sabine Cordi, Antonio Garcia de Herreros, Cecile Haumaitre, Frédéric Lemaigre, Meritxell Rovira, Amandine Viau, Anne Grapin-Botton, Sophie Saunier, Patrick Jacquemin, Isabelle Scheers
Published in: Gut, 2026, ISSN 0017-5749
Publisher: BMJ
DOI: 10.1136/GUTJNL-2025-337224

The nephronophthisis protein <i>GLIS2</i> / <i>NPHP7</i> is required for the DNA damage response in kidney tubular epithelial cells

Author(s): Lena K. Ebert, Lukas Schloesser, Laura E. Frech, Manaswita Jain, Claudia Dafinger, Max C. Liebau, Thomas Benzing, Bernhard Schermer, Gisela G. Slaats
Published in: American Journal of Physiology-Renal Physiology, Issue 329, 2025, ISSN 1931-857X
Publisher: American Physiological Society
DOI: 10.1152/AJPRENAL.00076.2025

Advances in ciliary proteomics – towards cracking the hidden proteome code of cilia

Author(s): Bernhard Schermer, Ronald Roepman, David U. Mick
Published in: Journal of Cell Science, Issue 138, 2025, ISSN 0021-9533
Publisher: The Company of Biologists
DOI: 10.1242/JCS.264197

Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies

Author(s): Ruxandra Bachmann-Gagescu, John A. Sayer
Published in: Journal of Cell Science, Issue 138, 2025, ISSN 0021-9533
Publisher: The Company of Biologists
DOI: 10.1242/JCS.264177

Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype

Author(s): Laura R. Claus, Rozemarijn Snoek, Siebren Faber, Aurelius J.C. Roskothen-Shevchuk, Elena Sendino Garví, Edith D.J. Peters, Sanne M.C. Savelberg, Karen Duran, Bert van der Zwaag, Tri Q. Nguyen, Roel Broekhuizen, Walter J. Brummelhuis, Maarten Rookmaaker, Suzanne W. van der Veen, Martin G. Elferink, Alexandre Karras, Laure Raymond, Cyril Mousseaux, Omid Sadeghi-Alavijeh, John A. Sayer, Eric Olinger, Ruxandra Neatu, Verena Klämbt, Marijn F. Stokman, Nine V.A.M. Knoers, Federico Tessadori, Daniel P. Gale, Karsten Boldt, Marius Ueffing, Gisela G. Slaats, Ronald Roepman, Friedhelm Hildebrandt, Laurent Mesnard, Gijs van Haaften, Albertien M. van Eerde
Published in: Nephron, Issue 150, 2026, ISSN 1660-8151
Publisher: S. Karger AG
DOI: 10.1159/000549598

Other (1)

Big lessons from small things – the JCS special issue on cilia and flagella

Author(s): Pleasantine Mill, Lotte B. Pedersen
Published in: Journal of Cell Science, Issue 138, 2025, ISSN 0021-9533
Publisher: The Company of Biologists
DOI: 10.1242/JCS.264477

Conference proceedings (1)

Comparing representations of long clinical texts for the task of patient note-identification

Author(s): Safa Alsaidi, Marc Vincent, Olivia Boyer, Nicolas Garcelon, Miguel Couceiro, Adrien Coulet
Published in: CL4Health@NAACL 2025, 2025
Publisher: HAL