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188 results on '"Czubkowski, Piotr"'

1. Maralixibat in progressive familial intrahepatic cholestasis (MARCH-PFIC): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

Miethke, Alexander G, Moukarzel, Adib, Porta, Gilda, Covarrubias Esquer, Joshue, Czubkowski, Piotr, Ordonez, Felipe, Mosca, Antonella, Aqul, Amal A, Squires, Robert H, Sokal, Etienne, D'Agostino, Daniel, Baumann, Ulrich, D'Antiga, Lorenzo, Kasi, Nagraj, Laborde, Nolwenn, Arikan, Cigdem, Lin, Chuan-Hao, Gilmour, Susan, Mittal, Naveen, Chiou, Fang Kuan, Horslen, Simon P, Huber, Wolf-Dietrich, Jaecklin, Thomas, Nunes, Tiago, Lascau, Anamaria, Longpre, Lara, Mogul, Douglas B, Garner, Will, Vig, Pamela, Hupertz, Vera F, Gonzalez-Peralta, Regino P, Ekong, Udeme, Hartley, Jane, Laverdure, Noemie, Ovchinsky, Nadia, and Thompson, Richard J

Published
2024
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2. Efficacy and safety of odevixibat in patients with Alagille syndrome (ASSERT): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Ovchinsky, Nadia, Aumar, Madeleine, Baker, Alastair, Baumann, Ulrich, Bufler, Philip, Cananzi, Mara, Czubkowski, Piotr, Durmaz, Özlem, Fischer, Ryan, Indolfi, Giuseppe, Karnsakul, Wikrom W, Lacaille, Florence, Lee, Way S, Maggiore, Giuseppe, Rosenthal, Philip, Ruiz, Mathias, Sokal, Etienne, Sturm, Ekkehard, van der Woerd, Wendy, Verkade, Henkjan J, Wehrman, Andrew, Clemson, Christine, Yu, Qifeng, Ni, Quanhong, Ruvido, Jessica, Manganaro, Susan, and Mattsson, Jan P

Published
2024
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3. Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis

Author

Thompson, Richard J., Artan, Reha, Baumann, Ulrich, Calvo, Pier Luigi, Czubkowski, Piotr, Dalgic, Buket, D’Antiga, Lorenzo, Di Giorgio, Angelo, Durmaz, Özlem, Gonzalès, Emmanuel, Grammatikopoulos, Tassos, Gupte, Girish, Hardikar, Winita, Houwen, Roderick H.J., Kamath, Binita M., Karpen, Saul J., Lacaille, Florence, Lachaux, Alain, Lainka, Elke, Loomes, Kathleen M., Mack, Cara L., Mattsson, Jan P., McKiernan, Patrick, Ni, Quanhong, Özen, Hasan, Rajwal, Sanjay R., Roquelaure, Bertrand, Shteyer, Eyal, Sokal, Etienne, Sokol, Ronald J., Soufi, Nisreen, Sturm, Ekkehard, Tessier, Mary Elizabeth, van der Woerd, Wendy L., Verkade, Henkjan J., Vittorio, Jennifer M., Wallefors, Terese, Warholic, Natalie, Yu, Qifeng, Horn, Patrick, and Kjems, Lise

Published
2023
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4. Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

Author

Felzen, Antonia, van Wessel, Daan B.E., Gonzales, Emmanuel, Thompson, Richard J., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Ferreira, Cristina Targa, Guerrero, Felipe Ordoñez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, de Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Zellos, Aglaia, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon, Schwarz, Kathleen, Bezerra, Jorge A., Wang, Kasper, Hansen, Bettina E., and Verkade, Henkjan J.

Published
2023
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5. Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial

Author

Thompson, Richard J, Arnell, Henrik, Artan, Reha, Baumann, Ulrich, Calvo, Pier Luigi, Czubkowski, Piotr, Dalgic, Buket, D'Antiga, Lorenzo, Durmaz, Özlem, Fischler, Björn, Gonzalès, Emmanuel, Grammatikopoulos, Tassos, Gupte, Girish, Hardikar, Winita, Houwen, Roderick H J, Kamath, Binita M, Karpen, Saul J, Kjems, Lise, Lacaille, Florence, Lachaux, Alain, Lainka, Elke, Mack, Cara L, Mattsson, Jan P, McKiernan, Patrick, Özen, Hasan, Rajwal, Sanjay R, Roquelaure, Bertrand, Shagrani, Mohammad, Shteyer, Eyal, Soufi, Nisreen, Sturm, Ekkehard, Tessier, Mary Elizabeth, Verkade, Henkjan J, and Horn, Patrick

Published
2022
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7. Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.

Author

Hansen, Bettina E., Vandriel, Shannon M., Vig, Pamela, Garner, Will, Mogul, Douglas B., Loomes, Kathleen M., Piccoli, David A., Rand, Elizabeth B., Jankowska, Irena, Czubkowski, Piotr, Gliwicz-Miedzińska, Dorota, Gonzales, Emmanuel M., Jacquemin, Emmanuel, Bouligand, Jérôme, D'Antiga, Lorenzo, Nicastro, Emanuele, Arnell, Henrik, Fischler, Björn, Sokal, Étienne, and Demaret, Tanguy

Published
2024
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8. Genotype correlates with the natural history of severe bile salt export pump deficiency

Author

van Wessel, Daan B.E., Thompson, Richard J., Gonzales, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre A., Nebbia, Gabriella, Arnell, Henrik, Björn Fischler, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Onal, Zerrin, Bunt, Ton M.G., Hansen, Bettina E., and Verkade, Henkjan J.

Published
2020
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12. CLASSICAL AUTOIMMUNE HEPATITIS AND THE IGG4-ASSOCIATED AUTOIMMUNE HEPATITIS IN PAEDIATRIC PATIENTS.

Author

KAPS-KOPIEC, DOMINIKA, WOŹNIAK, MAŁGORZATA, JARZĘBICKA, DOROTA, GRZYWA-CZUBA, RENATA, PAWŁOWSKA, JOANNA, CZUBKOWSKI, PIOTR, and CIELECKA-KUSZYK, JOANNA

Abstract

The IgG4-associated autoimmune hepatitis (IgG4-AIH) is a newly proposed disease entity characterised by the accumulation of the IgG4-expressing plasma cells in the liver. Its pathophysiology and clinical significance remain unclear and have poor evidence in the paediatric population. Thus, our study aims at comparing the group of paediatric patients with classical AIH and the IgG4-AIH. We carried out a retrospective analysis of 23 children (median age 8.5 years) diagnosed with AIH, who were compared according to the presence of IgG4-positive plasma cells in the liver biopsy. IgG4-AIH was defined if 10 or more IgG4 positive plasma cells/high-power field were found in the biopsy. The presence of the IgG4 component seems to be clinically insignificant. That is why, the conventional immunosuppressive protocol should be considered the standard treatment in the case of the IgG4-associated AIH. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Cholestasis Due to USP53 Deficiency

Author

Bull, Laura N., Ellmers, Rebecca, Foskett, Pierre, Strautnieks, Sandra, Sambrotta, Melissa, Czubkowski, Piotr, Jankowska, Irena, Wagner, Bart, Deheragoda, Maesha, and Thompson, Richard J.

Published
2021
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14. Cholestasis Due to USP53 Deficiency

Author

Bull, Laura N., Ellmers, Rebecca, Foskett, Pierre, Strautnieks, Sandra, Sambrotta, Melissa, Czubkowski, Piotr, Jankowska, Irena, Wagner, Bart, Deheragoda, Maesha, and Thompson, Richard J.

Published
2020
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16. Management of Hepatitis B Virus Infection and Prevention of Hepatitis B Virus Reactivation in Children With Acquired Immunodeficiencies or Undergoing Immune Suppressive, Cytotoxic, or Biological Modifier Therapies

Author

Indolfi, Giuseppe, Abdel-Hady, Mona, Bansal, Sanjay, Debray, Dominique, Smets, Françoise, Czubkowski, Piotr, van der Woerd, Wendy, Samyn, Marianne, Jahnel, Jörg, Gupte, Girish, Zellos, Aglaia, Mozer-Glassberg, Yael, Verkade, Henkjan J., Sokal, Etienne, and Fischler, Björn

Published
2020
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20. THU-291 - Serum bile acids are associated with native liver survival in patients with Alagille syndrome: results from the GALA study group

Author

Murillo Perez, Carla Fiorella, Vandriel, Shannon M., Wang, Jian-She, Liting, Li, She, Huiyu, Jankowska, Irena, Czubkowski, Piotr, Gliwicz, Dorota, Gonzalès, Emmanuel, Jacquemin, Emmanuel, Bouligand, Jérôme, D’Antiga, Lorenzo, Nicastro, Emanuele, Fischler, Björn, Arnell, Henrik, Siew, Susan, Stormon, Michael, Loomes, Kathleen M., Piccoli, David A., Rand, Elizabeth B., Squires, James E., Karpen, Saul J., Romero, Rene, Kasahara, Mureo, Önal, Zerrin, Sokal, Etienne, Demaret, Tanguy, Wiecek, Sabina, Lacaille, Florence, Debray, Dominique, Hardikar, Winita, Shankar, Sahana, Valentino, Pamela, Sundaram, Shikha, Chaidez, Alexander, Ebel, Noelle, Feinstein, Jeffrey, Mozar-Glazberg, Yael, Lin, Henry, Rock, Nathalie, Verkade, Henkjan J., Jensen, M.K., Jaramillo, Catalina, Kim, Kyungmo, Oh, Seak Hee, Brecelj, Jernej, Alam, Seema, Indolfi, Giuseppe, Blondet, Niviann, Fawaz, Rima, Nastasio, Silvia, Calvo, Pier Luigi, Nebbia, Gabriella, Arıkan, Cigdem, Larson-Nath, Catherine, Zizzo, Andréanne N., Sandahl, Thomas Damgaard, Tzivinikos, Christos, El-Koofy, Nehal, Elmonem, Mohamed, Desai, Dev, Karnsakul, Wikrom, Karthikeyan, Palaniswamy, Bulut, Pinar, Kerkar, Nanda, Wolters, Victorien, Roberts, Amin J, Evans, Helen, Sanchez, Maria Camila, Cavalieri, Maria Lorena, Kelly, Deirdre, Lee, Way Seah, Hajinicolaou, Christina, Lertudomphonwanit, Chatmanee, Fischer, Ryan, Bernabeu, Jesús Quintero, Quiros-Tejeira, Ruben E., Melere, Melina, Carvalho, Elisa, Eshun, John, Zellos, Aglaia, Dezsőfi, Antal, Pinto, Raquel Borges, Schwarz, Kathleen, Rogalidou, Maria, Garcia, Jennifer, Tamara, María Legarda, Beretta, Marisa, Mujawar, Quais, Santos-Silva, Ermelinda, Busoms, Cristina Molera, Lurz, Eberhard, Gonçalves, Cristina, Jimenez-Rivera, Carolina, Bañales, Jesús M., Shah, Uzma, Thompson, Richard, Hansen, Bettina, and Kamath, Binita M.

Published
2023
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22. Tissue Expression of Programmed Cell Death 1 Ligand1 (PD-L1) in Biopsies of Transplant Livers of Pediatric Patients as a Possible Marker of Acute Cellular Rejection.

Author

Szymanska, Sylwia, Markiewicz-Kijewska, Malgorzata, Pyzlak, Michal, Karkucinska-Wienckowska, Agnieszka, Ciopinski, Mateusz, Czubkowski, Piotr, and Kaliciński, Piotr

Subjects
GRAFT rejection, APOPTOSIS, CHILD patients, PROGRAMMED death-ligand 1, LIVER transplantation
Abstract

Introduction: Preclinical models have demonstrated that PD-1 and its ligand programmed death ligand1 (PD-L1) play significant roles in both graft induction and the maintenance of immune tolerance. It has also been suggested that PD-L1 tissue expression may predict graft rejection; however, the available data are sparse and inconclusive. Some studies were conducted on patients with cancer; most of them do not concern the liver, especially within the context of the use of immunohistochemical tests. Therefore, the aim of our study was to assess the relationship between tissue expression of PD-L1 in a unique material, i.e., in the liver biopsies of pediatric patients after transplantation with the presence of acute cellular rejection (ACR). Material and Methods: This retrospective study enrolled 55 biopsies from 55 patients who underwent protocol liver biopsies. The control group consisted of 19 biopsies from 13 patients diagnosed with acute cellular rejection (rejection activity index/RAI/ from 2 to 8). An immunohistochemical (IHC) staining for PD-L1 was performed in all of the liver specimens; its expression was analyzed in different regions of liver tissue (in inflammatory infiltrates and within the endothelium and hepatocytes). The following changes were re-evaluated in each specimen: features of any kind of rejection (acute cellular, antibody-mediated, chronic); the presence and severity of fibrosis (Ishak scale); and the presence of cholestasis and steatosis. Clinical parameters were also evaluated, including tests of liver function (AST, ALT, GGT, bilirubin). Results: The age of patients in the study group ranged from 2.37 to 18.9 years (median 13.87 years), with the time after transplantation being 1–17 years (median 8.36 years). The age of patients in the control group ranged from 1.48 to 17.51 years (median 7.93 years), with their biopsies being taken 0.62–14.39 years (median 1.33 years) after transplantation. We found a statistically significant relationship between PD-L1 expression on inflammatory infiltrates and ACR; however, there was no statistically significant relationship between PD-L1 endothelial expression and ACR. PD-L1 was not positive in the hepatocytes regardless of if it was the study or control group that was under observation. Conclusion: PD-L1 appears to be a promising marker to predict graft rejection. [ABSTRACT FROM AUTHOR]

Published
2023
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23. Relationships between decreases in serum bile acids, pruritus, and sleep disturbance scores with up to 72 weeks of odevixibat treatment in patients with progressive familial intrahepatic cholestasis

Author

Dalgic, Buket, Verkade, Henkjan J., Lachaux, Alain, Baumann, Ulrich, D'Antiga, Lorenzo, Czubkowski, Piotr, Artan, Reha, Vittorio, Jennifer, Ozen, Hasan, Gupte, Girish, Grammatikopoulos, Tassos, Ni, Quanhong, Kjems, Lise, Horn, Patrick, and Center for Liver, Digestive and Metabolic Diseases (CLDM)

Published
2022

24. SAT-021 Recurrence of autoimmune hepatitis cholestatic variant syndromes after liver transplantation affects graft and patient survival in an international multicentre cohort

Author

Ronca, Vincenzo, Parente, Alessandro, Lytvyak, Ellina, Hansen, Bettina, Hirschfield, Gideon M., Bonder, Alan, Ebadi, Maryam, Elwir, Saleh, Alsaed, Mohamad, Milkiewicz, Piotr, Janik, Maciej, Marschall, Hanns-Ulrich, Burza, Maria Antonella, Efe, Cumali, Caliskan, Ali Riza, Harputluoglu, Murat, Kabaçam, Gökhan, Terrabuio, Debora Raquel, Onofrio, Fernanda, Selzner, Nazia, Pares, Albert, Llovet, Laura Patricia, Akyildiz, Murat, Arıkan, Cigdem, Manns, Michael P., Taubert, Richard, Weber, Anna-Lena, Schiano, Thomas, Haydel, Brandy, Czubkowski, Piotr, Socha, Piotr, Ołdak, Natalia, Akamatsu, Nobuhisa, Tanaka, Atsushi, Levy, Cynthia, Martin, Eric F., Goel, Aparna, Sedki, Mai, Jankowska, Irena, Ikegami, Toru, Rodriguez, Maria, Sterneck, Martina, Weiler-Normann, Christina, Schramm, Christoph, Donato, Maria Francesca, Lohse, Ansgar W., Andrade, Raul J., Patwardhan, Vilas, van Hoek, Bart, Biewenga, Maaike, Kremer, Andreas, Ueda, Yoshihide, Deneau, Mark, Pedersen, Mark, Mayo, Marlyn J., Floreani, Annarosa, Burra, Patrizia, Secchi, Maria Francesca, Terziroli, Benedetta, Sciveres, Marco, Maggiore, Giuseppe, Jafri, Syed-Mohammed, Debray, Dominique, Girard, Muriel, Lacaille, Florence, Heneghan, Michael, Mason, Andrew L., Oo, Ye Htun, and Montano-Loza, Aldo J.

Published
2024
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25. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study.

Author

Vandriel, Shannon M., Li, Li‐Ting, She, Huiyu, Wang, Jian‐She, Gilbert, Melissa A., Jankowska, Irena, Czubkowski, Piotr, Gliwicz‐Miedzińska, Dorota, Gonzales, Emmanuel M., Jacquemin, Emmanuel, Bouligand, Jérôme, Spinner, Nancy B., Loomes, Kathleen M., Piccoli, David A., D'Antiga, Lorenzo, Nicastro, Emanuele, Sokal, Étienne, Demaret, Tanguy, Ebel, Noelle H., and Feinstein, Jeffrey A.

Published
2023
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26. Application of real-world evidence analytics: A 6-year event-free survival analysis in alagille syndrome of the gala clinical research database and maralixibat treated patients

Author

Hansen, Bettina E., Vandriel, Shannon M., Vig, Pamela, Garner, Will, Li, Li-Ting, She, Huiyu, Wang, Jian-She, Gilbert, Melissa A., Jankowska, Irena, Czubkowski, Piotr, Gliwicz-Miedzinska, Dorota, Gonzales, Emmanuel M., Jacquemin, Emmanuel, Bouligand, Jerome, Spinner, Nancy, Loomes, Kathleen M., Piccoli, David A., D'Antiga, Lorenzo, Nicastro, Emanuele, Sokal, Etienne, Demaret, Tanguy, Ebel, Noelle, Feinstein, Jeffrey A., Fawaz, Rima, Nastasio, Silvia, Lacaille, Florence, Debray, Dominique, Arnell, Henrik, Fischler, Bjorn, Siew, Susan, Stormon, Michael, Karpen, Saul J., Romero, Rene, Kim, Kyung Mo, Baek, Woo Yim, Hardikar, Winita, Shankar, Sahana, Roberts, Amin J., Evans, Helen M., Jensen, M. Kyle, Kavan, Marianne, Sundaram, Shikha S., Chaidez, Alexander, Karthikeyan, Palaniswamy, Davison, Suzanne, Sanchez, Maria Camila, Cavalieri, Maria Lorena, Verkade, Henkjan J., Lee, Way Seah, Squires, James E., and Center for Liver, Digestive and Metabolic Diseases (CLDM)

Published
2021

27. HEPATIC PARAMETERS, GROWTH, AND SLEEP WITH RESPONDERS AND NONRESPONDERS TO ODEVIXIBAT TREATMENT: POOLED DATA FROM THE PEDFIC 1 AND PEDFIC 2 STUDIES IN CHILDREN WITH PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS

Author

McKiernan, Patrick James, Sturm, Ekkehard, Kamath, Binita, Horn, Patrick, Kjems, Lise, Ni, Quanhong, Karpen, Saul J., Gupte, Girish, ÖZEN, HASAN, DALGIÇ, BUKET, ARTAN, REHA, Czubkowski, Piotr, Shteyer, Eyal, Baumann, Ulrich, Lachaux, Alain, Gonzales, Emmanuel M., Grammatikopoulos, Tassos, and Thompson, Richard J.

Published
2021

28. The Impact of a CMV Infection on the Expression of Selected Immunological Parameters in Liver Tissue in Children with Biliary Atresia.

Author

Janowska, Maria, Bierła, Joanna B., Kaleta, Magdalena, Wierzbicka-Rucińska, Aldona, Czubkowski, Piotr, Kanarek, Ewelina, Cukrowska, Bożena, Pawłowska, Joanna, and Cielecka-Kuszyk, Joanna

Subjects
CYTOMEGALOVIRUS diseases, BILIARY atresia, BILE ducts, IMMUNOSTAINING, CYTOTOXIC T cells, T cells
Abstract

The pathogenesis of biliary atresia (BA) is still not clear. The aim of this study was to evaluate the expression of selected immunological parameters in liver tissue in BA children based on CMV/EBV infection status. Eight of thirty-one children with newly diagnosed BA were included in this prospective study and assigned to two groups (I with active infection, II without active or past infection). All studies were performed on surgical liver biopsies. To visualize CD8+ T cells and CD56 expression, immunohistochemical staining was performed. The viral genetic material in the studied groups was not found, but CMV infection significantly affected the number of CD8+ lymphocytes in both the portal area and the bile ducts. The average number of CD8+ cells per mm2 of portal area in Groups I and II was 335 and 200 (p = 0.002). The average number of these cellsthat infiltrated the epithelium of the bile duct per mm2 in Group I and II was 0.73 and 0.37 (p = 0.0003), respectively. Expression of CD56 in the bile ducts corresponded to the intensity of the inflammatory infiltrate of CD8+ cells. Our results suggest that active CMV infection induces an increased infiltration of CD8+ lymphocytes, which could play a role in BA immunopathogenesis. Increased CD56 expression can be a sign of a newly formed bile structure often without lumen, suggesting inhibition of the maturation process in BA. [ABSTRACT FROM AUTHOR]

Published
2022
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29. Odevixibat effects on cholestasis-related parameters: Analysis of pooled data from the PEDFIC 1 and PEDFIC 2 studies in children with progressive familial intrahepatic cholestasis

Author

Thompson, Richard J., Artan, Reha, Baumann, Ulrich, Czubkowski, Piotr, Dalgic, Buket, Durmaz, Ozlem, Gonzales, Emmanuel, Grammatikopoulos, Tassos, Gupte, Girish, Horn, Patrick, Lachaux, Alain, Mckiernan, Patrick, Ozen, Hasan, Rajwal, Sanjay R., Roquelaure, Bertrand, Sturm, Ekkehard, Verkade, Henkjan J., Yu, Qifeng, Kjems, Lise, and Center for Liver, Digestive and Metabolic Diseases (CLDM)

Published
2021

31. Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency

Author

van Wessel, Daan B. E. Thompson, Richard J. Gonzales, Emmanuel and Jankowska, Irena Shneider, Benjamin L. Sokal, Etienne and Grammatikopoulos, Tassos Kadaristiana, Agustina Jacquemin, Emmanuel Spraul, Anne Lipinski, Patryk Czubkowski, Piotr and Rock, Nathalie Shagrani, Mohammad Broering, Dieter Algoufi, Talal Mazhar, Nejat Nicastro, Emanuele Kelly, Deirdre and Nebbia, Gabriella Arnell, Henrik Fischler, Bjorn Hulscher, Jan B. F. Serranti, Daniele Arikan, Cigdem Debray, Dominique and Lacaille, Florence Goncalves, Cristina Hierro, Loreto and Bartolo, Gema Munoz Mozer-Glassberg, Yael Azaz, Amer and Brecelj, Jernej Dezsofi, Antal Calvo, Pier Luigi and Krebs-Schmitt, Dorothee Hartleif, Steffen van der Woerd, Wendy L. Wang, Jian-She Li, Li-Ting Durmaz, Ozlem Kerkar, Nanda Jorgensen, Marianne Horby Fischer, Ryan and Jimenez-Rivera, Carolina Alam, Seema Cananzi, Mara and Laverdure, Noemie Ferreira, Cristina Targa Ordonez, Felipe and Wang, Heng Sency, Valerie Kim, Kyung Mo Chen, Huey-Ling and Carvalho, Elisa Fabre, Alexandre Bernabeu, Jesus Quintero and Alonso, Estella M. Sokol, Ronald J. Suchy, Frederick J. and Loomes, Kathleen M. McKiernan, Patrick J. Rosenthal, Philip and Turmelle, Yumirle Rao, Girish S. Horslen, Simon Kamath, Binita M. Rogalidou, Maria Karnsakul, Wikrom W. Hansen, Bettina Verkade, Henkjan J. Nat Course Prognosis PFIC Effect B

Abstract

BACKGROUND AND AIMS: Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis of its natural history, effects of predicted protein truncating mutations (PPTMs), and possible associations of serum bile acid (sBA) concentrations and surgical biliary diversion (SBD) with long-term outcome. We aimed to provide insights by using the largest genetically defined cohort of patients with FIC1 deficiency to date. APPROACH AND RESULTS: This multicenter, combined retrospective and prospective study included 130 patients with compound heterozygous or homozygous predicted pathogenic ATP8B1 variants. Patients were categorized according to the number of PPTMs (i.e., splice site, frameshift due to deletion or insertion, nonsense, duplication), FIC1-A (n = 67; no PPTMs), FIC1-B (n = 29; one PPTM), or FIC1-C (n = 34; two PPTMs). Survival analysis showed an overall native liver survival (NLS) of 44% at age 18 years. NLS was comparable among FIC1-A, FIC1-B, and FIC1-C (% NLS at age 10 years: 67%, 41%, and 59%, respectively; P = 0.12), despite FIC1-C undergoing SBD less often (% SBD at age 10 years: 65%, 57%, and 45%, respectively; P = 0.03). sBAs at presentation were negatively associated with NLS (NLS at age 10 years, sBAs < 194 mu mol/L: 49% vs. sBAs >= 194 mu mol/L: 15%; P = 0.03). SBD decreased sBAs (230 [125-282] to 74 [11-177] mu mol/L; P = 0.005). SBD (HR 0.55, 95% CI 0.28-1.03, P = 0.06) and post-SBD sBA concentrations < 65 mu mol/L (P = 0.05) tended to be associated with improved NLS. CONCLUSIONS: Less than half of patients with FIC1 deficiency reach adulthood with native liver. The number of PPTMs did not associate with the natural history or prognosis of FIC1 deficiency. sBA concentrations at initial presentation and after SBD provide limited prognostic information on long-term NLS.

Published
2021

32. THE PRESENCE OF A TRUNCATING MUTATION IN ABCB11 ABROGATES THE BENEFICIAL EFFECT OF A RESIDUAL FUNCTION MUTATION ON THE COURSE OF SEVERE BILE SALT EXPORT PUMP DEFICIENCY

Author

Felzen, Antonia, van Wessel, Daan, Thompson, Richard J., Gonzales, Emmanuel M., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipinski, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Bjorn, Hulscher, Jan, Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Bartolo, Gema Munoz, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsofi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, Van der Woerd, Wendy, Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Ozlem, Kerkar, Nanda, Jorgensen, Marianne Horby, Fischer, Ryan T., Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Ruiz, Mathias, Ferreira, Cristina Targa, Ferrero, Felipe Ordonez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick James, Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon P., Schwarz, Kathleen B., Bezerra, Jorge A., Wang, Kasper S., Hansen, Bettina E., Verkade, Henkjan J., and Center for Liver, Digestive and Metabolic Diseases (CLDM)

Published
2020

33. NATIVE LIVER SURVIVAL IN PATIENTS WITH FIC1 DEFICIENCY: IMPACT OF GENOTYPE, SERUM BILE ACID CONCENTRATIONS AND SURGICAL BILIARY DIVERSION

Author

van Wessel, Daan, Thompson, Richard J., Gonzales, Emmanuel M., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipinski, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriela, Arnell, Henrik, Fischler, Bjorn, Hulscher, Jan, Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Bartolo, Gema Munoz, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsofi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, Van der Woerd, Wendy, Wang, Jian-She, Li, Liting, Durmaz, Ozlem, Kerkar, Nanda, Jorgensen, Marianne Horby, Fischer, Ryan T., Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Verkade, Henkjan J., and Center for Liver, Digestive and Metabolic Diseases (CLDM)

Published
2020

35. THU-284 - Efficacy and safety outcomes with odevixibat treatment: Pooled data from the phase 3 ASSERT and ASSERT-EXT studies in patients with Alagille syndrome

Author

Ovchinsky, Nadia, Aumar, Madeleine, Baker, Alastair, Baumann, Ulrich, Bufler, Philip, Cananzi, Mara, Durmaz, Ozlem, Fischer, Ryan, Indolfi, Giuseppe, Karnsakul, Wikrom, Lacaille, Florence, Lee, Way Seah, Maggiore, Giuseppe, Rosenthal, Philip, Ruiz, Mathias, Sokal, Etienne, Sturm, Ekkehard, van der Woerd, Wendy L., Verkade, Henkjan J., Wehrman, Andrew, Clemson, Christine, Yu, Qifeng, Ni, Quanhong, Ruvido, Jessica, Manganaro, Susan, Mattsson, Jan, and Czubkowski, Piotr

Published
2023
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36. THU-289 - Analysis of long-term treatment effects of odevixibat on clinical outcomes in children with progressive familial intrahepatic cholestasis in odevixibat clinical studies vs external controls from the NAPPED database

Author

Hansen, Bettina, Valcheva, Velichka, Yu, Qifeng, van Wessel, Daan, Thompson, Richard, Gonzalès, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Kumar, Kishwer, Alkuraya, Fowzan, Sateesh, Meddirevula, Broering, Dieter Clemens, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Serranti, Daniele, Arıkan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Gonçalves, Cristina, Llanillo, Loreto Hierro, Bartolo, Gema Muñoz, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy L., Kamath, Binita M., Wang, Jian-She, Liting, Li, Durmaz, Ozlem, Önal, Zerrin, Felzen, Antonia, Nomden, Mark, Sonajalg, Jaak, Stein, Philip, Ni, Quanhong, Clemson, Christine, Mattsson, Jan, and Verkade, Henkjan J.

Published
2023
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37. WED-282 - Analysis of safety in maralixibat-treated participants with progressive familial intrahepatic cholestasis: data from MARCH-PFIC

Author

Miethke, Alexander, Moukarzel, Adib, Porta, Gilda, Esquer, Joshue Covarrubias, Czubkowski, Piotr, Ordoñez, Felipe, Candusso, Manila, Aqul, Amal A., Squires, Robert H., Sokal, Etienne, D’Agostino, Daniel, Baumann, Ulrich, D’Antiga, Lorenzo, Kasi, Nagraj, Laborde, Nolwenn, Arikan, Cigdem, Lin, Chuan-Hao, Gilmour, Susan, Mittal, Naveen, Chiou, Fang Kuan, Horslen, Simon P., Huber, Wolf-Dietrich, David-Feliciano, Susan, Chien, Elaine, Mogul, Douglas, Garner, Will, Nunes, Tiago, Lascau, Anamaria, Vig, Pamela, Hupertz, Vera, Gonzalez-Peralta, Regino, Ekong, Udeme, Hartley, Jane, Laverdure, Noemie, Ovchinsky, Nadia, and Thompson, Richard

Published
2023
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38. LBP-35 - Long-term maintenance of response and improved liver health with maralixibat in patients with progressive familial intrahepatic cholestasis (PFIC): data from the MARCH-ON study

Author

Miethke, Alexander, Moukarzel, Adib, Porta, Gilda, Esquer, Joshue Covarrubias, Czubkowski, Piotr, Ordonez, Felipe, Candusso, Manila, Aqul, Amal A., Squires, Robert H., Sokal, Etienne, D’Agostino, Daniel, Baumann, Ulrich, D’Antiga, Lorenzo, Kasi, Nagraj, Laborde, Nolwenn, Arıkan, Cigdem, Lin, Chuan-Hao, Gilmour, Susan, Mittal, Naveen, Chiou, Fang Kuan, Horslen, Simon P., Huber, Wolf-Dietrich, Nunes, Tiago, Lascau, Anamaria, Longpre, Lara, Mogul, Douglas, Aguilar, Raul, Vig, Pamela, Hupertz, Vera, Gonzalez-Peralta, Regino, Ekong, Udeme, Hartley, Jane, Laverdure, Noemie, Ovchinsky, Nadia, and Thompson, Richard

Published
2023
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41. Proceedings of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition Monothematic Conference, 2020: "Acute Liver Failure in Children": Treatment and Directions for Future Research.

Author

Zellos, Aglaia, Debray, Dominique, Indolfi, Giuseppe, Czubkowski, Piotr, Samyn, Marianne, Hadzic, Nedim, Gupte, Girish, Fischler, Bjorn, Smets, Francoise, Clement de Clety, Stephan, Grenda, Ryszard, Mozer, Yael, Mancell, Sara, Jahnel, Jorg, Auzinger, Georg, Worth, Austen, Lisman, Ton, Staufner, Christian, Baumann, Ulrich, and Dhawan, Anil

Published
2022
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42. Proceedings of ESPGHAN Monothematic Conference 2020: "Acute Liver Failure in Children": Diagnosis and Initial Management.

Author

Zellos, Aglaia, Debray, Dominique, Indolfi, Giuseppe, Czubkowski, Piotr, Samyn, Marianne, Hadzic, Nedim, Gupte, Girish, Fischler, Bjorn, Smets, Francoise, de Clety, Stephan Clement, Grenda, Ryszard, Mozer, Yael, Mancell, Sara, Jahnel, Jorg, Auzinger, Georg, Worth, Austen, Lisman, Ton, Staufner, Christian, Baumann, Ulrich, and Dhawan, Anil

Published
2022
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46. PS-195-Predicting long-term outcome after surgical biliary diversion in Bsep-deficiency patients: Results from the NAPPED consortium

Author

Wessel, Daan van, Thompson, Richard, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jankowska, Irena, Lipiński, Patryk, Czubkowski, Piotr, Gonzales, Emmanuel, Jacquemin, Emmanuel, Spraul, Anne, Sokal, Etienne, Shagrani, Mohammad Ali, Broering, Dieter Clemens, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, JBF, Serranti, Daniele, Arıkan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Gonçalves, Cristina, Hierro, Loreto, Bartolo, Gema Muñoz, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, Woerd, Wendy van der, Kamath, Binita M., Wang, Jian-She, Liting, Li, Durmaz, Ozlem, Hansen, Bettina, Verkade, Henkjan, The International Liver Congress (EASL), UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, and UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique

Subjects
Pediatrics, medicine.medical_specialty, Hepatology, business.industry, medicine, business, Outcome (game theory), Term (time)
Published
2019

50. Liver Histopathology in Late Protocol Biopsies after Pediatric Liver Transplantation.

Author

Markiewicz-Kijewska, Małgorzata, Szymańska, Sylwia, Pyzlak, Michal, Kaliciński, Piotr, Teisseyre, Joanna, Kowalski, Adam, Jankowska, Irena, Czubkowski, Piotr, and Ismail, Hor

Subjects
LIVER transplantation, LIVER failure, CHILDREN'S health, HISTOPATHOLOGY, LIFE expectancy
Abstract

Liver transplantation has become a routine treatment for children with end stage liver failure. Recently, the long term survival of pediatric patients after liver transplantation has improved, with a life expectancy much longer than that of adult recipients, but also with longer exposition of the graft to various injuries, including immunological, inflammatory and others. Biochemical tests, although important, do not always reflect graft injury. The aim of our study was to analyze the histopathology of the graft in late protocol biopsies and correlate it with the clinical and biochemical status of these patients. We analyzed 61 protocol liver biopsies taken from 61 patients. Biopsies were taken 9.03-17.09 years (mean 12.68, median 11.74 years) after transplantation. Liver specimens were examined particularly for the presence and stage of liver fibrosis, inflammation, steatosis, and acute or chronic cellular and humoral rejection. We did not find any abnormalities in 26 (42.6%) liver specimens. None of the patients had signs of cellular or antibody mediated rejection or chronic rejection. In 23 liver biopsies (37.7%), we found non-specific lymphoid infiltrates. Another problem was fibrosis (equal to or more than three on the Ishak scale)--we found it in 17 patients, including seven liver specimens (11.5%) with severe fibrosis (Ishak 5-6). Conclusions: Various pathomorphological abnormalities were found in more than half of patients with a median 11.74 years post-transplant follow-up. Most of them presented normal laboratory liver tests at the same time, suggesting a slow subclinical process leading to pathomorphological abnormalities. No single factor for the development of these abnormalities was found, but our study supports the need for protocol liver biopsies even in patients with normal/almost normal biochemical liver tests. [ABSTRACT FROM AUTHOR]

Published
2021
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