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1. Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency

Author

Migliavacca, Maddalena, Barzaghi, Federica, Fossati, Claudia, Rancoita, Paola M. V., Gabaldo, Michela, Dionisio, Francesca, Giannelli, Stefania, Salerio, Federica Andrea, Ferrua, Francesca, Tucci, Francesca, Calbi, Valeria, Gallo, Vera, Recupero, Salvatore, Consiglieri, Giulia, Pajno, Roberta, Sambuco, Maria, Priolo, Alessio, Ferri, Chiara, Garella, Vittoria, Monti, Ilaria, Silvani, Paolo, Darin, Silvia, Casiraghi, Miriam, Corti, Ambra, Zancan, Stefano, Levi, Margherita, Cesana, Daniela, Carlucci, Filippo, Pituch-Noworolska, Anna, AbdElaziz, Dalia, Baumann, Ulrich, Finocchi, Andrea, Cancrini, Caterina, Ladogana, Saverio, Meinhardt, Andrea, Meyts, Isabelle, Montin, Davide, Notarangelo, Lucia Dora, Porta, Fulvio, Pasquet, Marlène, Speckmann, Carsten, Stepensky, Polina, Tommasini, Alberto, Rabusin, Marco, Karakas, Zeynep, Galicchio, Miguel, Leonardi, Lucia, Duse, Marzia, Guner, Sukru Nail, Di Serio, Clelia, Ciceri, Fabio, Bernardo, Maria Ester, Aiuti, Alessandro, and Cicalese, Maria Pia

Published
2024
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2. Circulating hematopoietic stem/progenitor cell subsets contribute to human hematopoietic homeostasis

Author

Quaranta, Pamela, Basso-Ricci, Luca, Jofra Hernandez, Raisa, Pacini, Guido, Naldini, Matteo Maria, Barcella, Matteo, Seffin, Luca, Pais, Giulia, Spinozzi, Giulio, Benedicenti, Fabrizio, Pietrasanta, Carlo, Cheong, Jin Gyu, Ronchi, Andrea, Pugni, Lorenza, Dionisio, Francesca, Monti, Ilaria, Giannelli, Stefania, Darin, Silvia, Fraschetta, Federico, Barera, Graziano, Ferrua, Francesca, Calbi, Valeria, Ometti, Marco, Di Micco, Raffaella, Mosca, Fabio, Josefowicz, Steven Zvi, Montini, Eugenio, Calabria, Andrea, Bernardo, Maria Ester, Cicalese, Maria Pia, Gentner, Bernhard, Merelli, Ivan, Aiuti, Alessandro, and Scala, Serena

Published
2024
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3. Hematopoietic reconstitution dynamics of mobilized- and bone marrow-derived human hematopoietic stem cells after gene therapy

Author

Scala, Serena, Ferrua, Francesca, Basso-Ricci, Luca, Dionisio, Francesca, Omrani, Maryam, Quaranta, Pamela, Jofra Hernandez, Raisa, Del Core, Luca, Benedicenti, Fabrizio, Monti, Ilaria, Giannelli, Stefania, Fraschetta, Federico, Darin, Silvia, Albertazzi, Elena, Galimberti, Stefania, Montini, Eugenio, Calabria, Andrea, Cicalese, Maria Pia, and Aiuti, Alessandro

Published
2023
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4. A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease

Author

Migliavacca, Maddalena, Basso Ricci, Luca, Farinelli, Giada, Calbi, Valeria, Tucci, Francesca, Barzaghi, Federica, Ferrua, Francesca, Cicalese, Maria Pia, Darin, Silvia, Barzaghi, Lina Raffaella, Giglio, Fabio, Peccatori, Jacopo, Fumagalli, Francesca, Nicoletti, Roberto, Giannelli, Stefania, Sartirana, Claudia, Bandiera, Alessandro, Esposito, Maria, Milani, Raffaella, Mazzi, Benedetta, Finocchi, Andrea, Marktel, Sarah, Assanelli, Andrea, Locatelli, Franco, Ciceri, Fabio, Aiuti, Alessandro, and Bernardo, Maria Ester

Published
2022
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5. Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome

Author

Consiglieri, G, Tucci, F, De Pellegrin, M, Guerrini, B, Cattoni, A, Risca, G, Scarparo, S, Sarzana, M, Pontesilli, S, Mellone, R, Gasperini, S, Galimberti, S, Silvani, P, Filisetti, C, Darin, S, Forni, G, Miglietta, S, Santi, L, Facchini, M, Corti, A, Fumagalli, F, Cicalese, M, Calbi, V, Migliavacca, M, Barzaghi, F, Ferrua, F, Gallo, V, Recupero, S, Canarutto, D, Doglio, M, Tedesco, L, Volpi, N, Rovelli, A, la Marca, G, Valsecchi, M, Zancan, S, Ciceri, F, Naldini, L, Baldoli, C, Parini, R, Gentner, B, Aiuti, A, Bernardo, M, Consiglieri, Giulia, Tucci, Francesca, De Pellegrin, Maurizio, Guerrini, Barbara, Cattoni, Alessandro, Risca, Giulia, Scarparo, Stefano, Sarzana, Marina, Pontesilli, Silvia, Mellone, Renata, Gasperini, Serena, Galimberti, Stefania, Silvani, Paolo, Filisetti, Chiara, Darin, Silvia, Forni, Giulia, Miglietta, Simona, Santi, Ludovica, Facchini, Marcella, Corti, Ambra, Fumagalli, Francesca, Cicalese, Maria Pia, Calbi, Valeria, Migliavacca, Maddalena, Barzaghi, Federica, Ferrua, Francesca, Gallo, Vera, Recupero, Salvatore, Canarutto, Daniele, Doglio, Matteo, Tedesco, Lucia, Volpi, Nicola, Rovelli, Attilio, la Marca, Giancarlo, Valsecchi, Maria Grazia, Zancan, Stefano, Ciceri, Fabio, Naldini, Luigi, Baldoli, Cristina, Parini, Rossella, Gentner, Bernhard, Aiuti, Alessandro, Bernardo, Maria Ester, Consiglieri, G, Tucci, F, De Pellegrin, M, Guerrini, B, Cattoni, A, Risca, G, Scarparo, S, Sarzana, M, Pontesilli, S, Mellone, R, Gasperini, S, Galimberti, S, Silvani, P, Filisetti, C, Darin, S, Forni, G, Miglietta, S, Santi, L, Facchini, M, Corti, A, Fumagalli, F, Cicalese, M, Calbi, V, Migliavacca, M, Barzaghi, F, Ferrua, F, Gallo, V, Recupero, S, Canarutto, D, Doglio, M, Tedesco, L, Volpi, N, Rovelli, A, la Marca, G, Valsecchi, M, Zancan, S, Ciceri, F, Naldini, L, Baldoli, C, Parini, R, Gentner, B, Aiuti, A, Bernardo, M, Consiglieri, Giulia, Tucci, Francesca, De Pellegrin, Maurizio, Guerrini, Barbara, Cattoni, Alessandro, Risca, Giulia, Scarparo, Stefano, Sarzana, Marina, Pontesilli, Silvia, Mellone, Renata, Gasperini, Serena, Galimberti, Stefania, Silvani, Paolo, Filisetti, Chiara, Darin, Silvia, Forni, Giulia, Miglietta, Simona, Santi, Ludovica, Facchini, Marcella, Corti, Ambra, Fumagalli, Francesca, Cicalese, Maria Pia, Calbi, Valeria, Migliavacca, Maddalena, Barzaghi, Federica, Ferrua, Francesca, Gallo, Vera, Recupero, Salvatore, Canarutto, Daniele, Doglio, Matteo, Tedesco, Lucia, Volpi, Nicola, Rovelli, Attilio, la Marca, Giancarlo, Valsecchi, Maria Grazia, Zancan, Stefano, Ciceri, Fabio, Naldini, Luigi, Baldoli, Cristina, Parini, Rossella, Gentner, Bernhard, Aiuti, Alessandro, and Bernardo, Maria Ester

Abstract

Mucopolysaccharidosis type I Hurler (MPSIH) is characterized by severe and progressive skeletal dysplasia that is not fully addressed by allogeneic hematopoietic stem cell transplantation (HSCT). Autologous hematopoietic stem progenitor cell-gene therapy (HSPC-GT) provides superior metabolic correction in patients with MPSIH compared with HSCT; however, its ability to affect skeletal manifestations is unknown. Eight patients with MPSIH (mean age at treatment: 1.9 years) received lentiviral-based HSPC-GT in a phase 1/2 clinical trial (NCT03488394). Clinical (growth, measures of kyphosis and genu velgum), functional (motor function, joint range of motion), and radiological [acetabular index (AI), migration percentage (MP) in hip x-rays and MRIs and spine MRI score] parameters of skeletal dysplasia were evaluated at baseline and multiple time points up to 4 years after treatment. Specific skeletal measures were retrospectively compared with an external cohort of HSCT-treated patients. At a median follow-up of 3.78 years after HSPC-GT, all patients treated with HSPC-GT exhibited longitudinal growth within WHO reference ranges and a median height gain greater than that observed in patients treated with HSCT after 3-year follow-up. Patients receiving HSPC-GT experienced complete and earlier normalization of joint mobility compared with patients treated with HSCT. Mean AI and MP showed progressive decreases after HSPC-GT, suggesting a reduction in acetabular dysplasia. Typical spine alterations measured through a spine MRI score stabilized after HSPC-GT. Clinical, functional, and radiological measures suggested an early beneficial effect of HSPC-GT on MPSIH-typical skeletal features. Longer follow-up is needed to draw definitive conclusions on HSPC-GT's impact on MPSIH skeletal dysplasia.

Published
2024

6. Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome.

Author

Consiglieri, Giulia, Tucci, Francesca, De Pellegrin, Maurizio, Guerrini, Barbara, Cattoni, Alessandro, Risca, Giulia, Scarparo, Stefano, Sarzana, Marina, Pontesilli, Silvia, Mellone, Renata, Gasperini, Serena, Galimberti, Stefania, Silvani, Paolo, Filisetti, Chiara, Darin, Silvia, Forni, Giulia, Miglietta, Simona, Santi, Ludovica, Facchini, Marcella, and Corti, Ambra

Subjects
HEMATOPOIETIC stem cells, MUCOPOLYSACCHARIDOSIS I, HEMATOPOIETIC stem cell transplantation, GENE therapy, CELLULAR therapy, CONGENITAL hip dislocation, FIBRODYSPLASIA ossificans progressiva
Abstract

Mucopolysaccharidosis type I Hurler (MPSIH) is characterized by severe and progressive skeletal dysplasia that is not fully addressed by allogeneic hematopoietic stem cell transplantation (HSCT). Autologous hematopoietic stem progenitor cell–gene therapy (HSPC-GT) provides superior metabolic correction in patients with MPSIH compared with HSCT; however, its ability to affect skeletal manifestations is unknown. Eight patients with MPSIH (mean age at treatment: 1.9 years) received lentiviral-based HSPC-GT in a phase 1/2 clinical trial (NCT03488394). Clinical (growth, measures of kyphosis and genu velgum), functional (motor function, joint range of motion), and radiological [acetabular index (AI), migration percentage (MP) in hip x-rays and MRIs and spine MRI score] parameters of skeletal dysplasia were evaluated at baseline and multiple time points up to 4 years after treatment. Specific skeletal measures were retrospectively compared with an external cohort of HSCT-treated patients. At a median follow-up of 3.78 years after HSPC-GT, all patients treated with HSPC-GT exhibited longitudinal growth within WHO reference ranges and a median height gain greater than that observed in patients treated with HSCT after 3-year follow-up. Patients receiving HSPC-GT experienced complete and earlier normalization of joint mobility compared with patients treated with HSCT. Mean AI and MP showed progressive decreases after HSPC-GT, suggesting a reduction in acetabular dysplasia. Typical spine alterations measured through a spine MRI score stabilized after HSPC-GT. Clinical, functional, and radiological measures suggested an early beneficial effect of HSPC-GT on MPSIH-typical skeletal features. Longer follow-up is needed to draw definitive conclusions on HSPC-GT's impact on MPSIH skeletal dysplasia. Editor's summary: Mucopolysaccharidosis type I Hurler variant (PMSIH), caused by mutations in the gene encoding alpha-1-iduronidase (IDUA), leads to accumulation of glycosaminoglycans in multiple tissues and is associated with progressive skeletal dysplasia that is not halted by allogeneic hematopoietic stem cell transplantation. Here, Consiglieri et al. reported a detailed analysis of skeletal measures in an ongoing phase 1/2 clinical trial for gene therapy with autologous hematopoietic stem and progenitor cells containing the corrected the IDUA gene (HSPC-GT) in eight individuals with PMSIH. Treated patients demonstrated improved clinical, functional, and radiological parameters over a median follow-up of 3.78 years, suggesting that HSPC-GT has early beneficial effects on skeletal dysplasia in individuals with PMSIH. —Melissa L. Norton [ABSTRACT FROM AUTHOR]

Published
2024
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7. Bone marrow harvesting from paediatric patients undergoing haematopoietic stem cell gene therapy

Author

Tucci, Francesca, Frittoli, Marta, Barzaghi, Federica, Calbi, Valeria, Migliavacca, Maddalena, Ferrua, Francesca, Fumagalli, Francesca, Lorioli, Laura, Castagnaro, Laura, Facchini, Marcella, Fossati, Claudia, Zancan, Stefano, Massariello, Paola, Manfredini, Michele, Consiglieri, Giulia, Canarutto, Daniele, Recupero, Salvatore, Calzatini, Francesco, Casiraghi, Miriam, Darin, Silvia, Antonioli, Gigliola, Miniero, Roberto, Fiori, Rossana, Silvani, Paolo, Zambelli, Matilde, Marktel, Sarah, Gattillo, Salvatore, Milani, Raffaella, Santoleri, Luca, Ciceri, Fabio, Biffi, Alessandra, Cicalese, Maria Pia, Bernardo, Maria Ester, and Aiuti, Alessandro

Published
2019
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8. S250: UNVEILING THE BIOLOGICAL ROLE OF PERIPHERAL BLOOD HUMAN CIRCULATING HEMATOPOIETIC STEM AND PROGENITOR CELLS

Author

Quaranta, Pamela, primary, Basso-Ricci, Luca, additional, Jofra Hernandez, Raisa, additional, Maria Naldini, Matteo, additional, Barcella, Matteo, additional, Pacini, Guido, additional, Pietrasanta, Carlo, additional, Pugni, Lorenza, additional, Pais, Giulia, additional, Benedicenti, Fabrizio, additional, Giannelli, Stefania, additional, Monti, Ilaria, additional, Darin, Silvia, additional, Barera, Graziano, additional, Tucci, Francesca, additional, Ferrua, Francesca, additional, Calbi, Valeria, additional, Gentner, Bernhard, additional, DI Micco, Raffaella, additional, Montini, Eugenio, additional, Calabria, Andrea, additional, Merelli, Ivan, additional, Mosca, Fabio, additional, Ester Bernardo, Maria, additional, Pia Cicalese, Maria, additional, Aiuti, Alessandro, additional, and Serena, Scala, additional

Published
2023
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9. P1392: INTERIM ANALYSIS OF FIRST IN HUMAN PHASE I-II CLINICAL TRIAL OF EX-VIVO GENE THERAPY FOR HURLER SYNDROME: AN UPDATE AT 3 YEAR FOLLOW-UP

Author

Tucci, Francesca, primary, Consiglieri, Giulia, additional, Filisetti, Chiara, additional, De Pellegrin, Maurizio, additional, Mellone, Renata, additional, Fumagalli, Francesca, additional, Darin, Silvia, additional, Sarzana, Marina, additional, Scarparo, Stefano, additional, Ciotti, Francesca, additional, Silvani, Paolo, additional, Baldoli, Cristina, additional, Pontesilli, Silvia, additional, Parini, Rossella, additional, la Marca, Giancarlo, additional, Ciceri, Fabio, additional, Naldini, Luigi, additional, Aiuti, Alessandro, additional, Gentner, Bernhard, additional, and Ester Bernardo, Maria, additional

Published
2023
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10. Hematopoietic reconstitution dynamics of mobilized- and bone marrow-derived human hematopoietic stem cells after gene therapy

Author

Scala, S, Ferrua, F, Basso-Ricci, L, Dionisio, F, Omrani, M, Quaranta, P, Jofra Hernandez, R, Del Core, L, Benedicenti, F, Monti, I, Giannelli, S, Fraschetta, F, Darin, S, Albertazzi, E, Galimberti, S, Montini, E, Calabria, A, Cicalese, M, Aiuti, A, Scala, Serena, Ferrua, Francesca, Basso-Ricci, Luca, Dionisio, Francesca, Omrani, Maryam, Quaranta, Pamela, Jofra Hernandez, Raisa, Del Core, Luca, Benedicenti, Fabrizio, Monti, Ilaria, Giannelli, Stefania, Fraschetta, Federico, Darin, Silvia, Albertazzi, Elena, Galimberti, Stefania, Montini, Eugenio, Calabria, Andrea, Cicalese, Maria Pia, Aiuti, Alessandro, Scala, S, Ferrua, F, Basso-Ricci, L, Dionisio, F, Omrani, M, Quaranta, P, Jofra Hernandez, R, Del Core, L, Benedicenti, F, Monti, I, Giannelli, S, Fraschetta, F, Darin, S, Albertazzi, E, Galimberti, S, Montini, E, Calabria, A, Cicalese, M, Aiuti, A, Scala, Serena, Ferrua, Francesca, Basso-Ricci, Luca, Dionisio, Francesca, Omrani, Maryam, Quaranta, Pamela, Jofra Hernandez, Raisa, Del Core, Luca, Benedicenti, Fabrizio, Monti, Ilaria, Giannelli, Stefania, Fraschetta, Federico, Darin, Silvia, Albertazzi, Elena, Galimberti, Stefania, Montini, Eugenio, Calabria, Andrea, Cicalese, Maria Pia, and Aiuti, Alessandro

Abstract

Mobilized peripheral blood is increasingly used instead of bone marrow as a source of autologous hematopoietic stem/progenitor cells for ex vivo gene therapy. Here, we present an unplanned exploratory analysis evaluating the hematopoietic reconstitution kinetics, engraftment and clonality in 13 pediatric Wiskott-Aldrich syndrome patients treated with autologous lentiviral-vector transduced hematopoietic stem/progenitor cells derived from mobilized peripheral blood (n = 7), bone marrow (n = 5) or the combination of the two sources (n = 1). 8 out of 13 gene therapy patients were enrolled in an open-label, non-randomized, phase 1/2 clinical study (NCT01515462) and the remaining 5 patients were treated under expanded access programs. Although mobilized peripheral blood- and bone marrow- hematopoietic stem/progenitor cells display similar capability of being gene-corrected, maintaining the engineered grafts up to 3 years after gene therapy, mobilized peripheral blood-gene therapy group shows faster neutrophil and platelet recovery, higher number of engrafted clones and increased gene correction in the myeloid lineage which correlate with higher amount of primitive and myeloid progenitors contained in hematopoietic stem/progenitor cells derived from mobilized peripheral blood. In vitro differentiation and transplantation studies in mice confirm that primitive hematopoietic stem/progenitor cells from both sources have comparable engraftment and multilineage differentiation potential. Altogether, our analyses reveal that the differential behavior after gene therapy of hematopoietic stem/progenitor cells derived from either bone marrow or mobilized peripheral blood is mainly due to the distinct cell composition rather than functional differences of the infused cell products, providing new frames of references for clinical interpretation of hematopoietic stem/progenitor cell transplantation outcome.

Published
2023

11. Unveiling the Biological Role of Peripheral Blood Human Circulating Hematopoietic Stem and Progenitor Cells

Author

Quaranta, Pamela, primary, Basso-Ricci, Luca, additional, Jofra Hernández, Raisa, additional, Naldini, Matteo Maria, additional, Barcella, Matteo, additional, Pacini, Guido, additional, Pietrasanta, Carlo, additional, Pugni, Lorenza, additional, Pais, Giulia, additional, Benedicenti, Fabrizio, additional, Dionisio, Francesca, additional, Giannelli, Stefania, additional, Monti, Ilaria, additional, Darin, Silvia, additional, Barera, Graziano, additional, Tucci, Francesca, additional, Ferrua, Francesca, additional, Calbi, Valeria, additional, Ometti, Marco, additional, Gentner, Bernhard, additional, Di Micco, Raffaella, additional, Montini, Eugenio, additional, Calabria, Andrea, additional, Merelli, Ivan, additional, Mosca, Fabio, additional, Bernardo, Maria Ester, additional, Cicalese, Maria Pia, additional, Aiuti, Alessandro, additional, and Scala, Serena, additional

Published
2022
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12. Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency

Author

Milardi, Giulia, primary, Di Lorenzo, Biagio, additional, Gerosa, Jolanda, additional, Barzaghi, Federica, additional, Di Matteo, Gigliola, additional, Omrani, Maryam, additional, Jofra, Tatiana, additional, Merelli, Ivan, additional, Barcella, Matteo, additional, Filippini, Matteo, additional, Conti, Anastasia, additional, Ferrua, Francesca, additional, Pozzo Giuffrida, Francesco, additional, Dionisio, Francesca, additional, Rovere‐Querini, Patrizia, additional, Marktel, Sarah, additional, Assanelli, Andrea, additional, Piemontese, Simona, additional, Brigida, Immacolata, additional, Zoccolillo, Matteo, additional, Cirillo, Emilia, additional, Giardino, Giuliana, additional, Danieli, Maria Giovanna, additional, Specchia, Fernando, additional, Pacillo, Lucia, additional, Di Cesare, Silvia, additional, Giancotta, Carmela, additional, Romano, Francesca, additional, Matarese, Alessandro, additional, Chetta, Alfredo Antonio, additional, Trimarchi, Matteo, additional, Laurenzi, Andrea, additional, De Pellegrin, Maurizio, additional, Darin, Silvia, additional, Montin, Davide, additional, Marinoni, Maddalena, additional, Dellepiane, Rosa Maria, additional, Sordi, Valeria, additional, Lougaris, Vassilios, additional, Vacca, Angelo, additional, Melzi, Raffaella, additional, Nano, Rita, additional, Azzari, Chiara, additional, Bongiovanni, Lucia, additional, Pignata, Claudio, additional, Cancrini, Caterina, additional, Plebani, Alessandro, additional, Piemonti, Lorenzo, additional, Petrovas, Constantinos, additional, Di Micco, Raffaella, additional, Ponzoni, Maurilio, additional, Aiuti, Alessandro, additional, Cicalese, Maria Pia, additional, and Fousteri, Georgia, additional

Published
2022
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13. First-in-human phase I/II clinical trial of hematopoietic stem and progenitor cell gene therapy for Hurler syndrome: Favorable safety profile and extensive metabolic correction

Author

Tucci, Francesca, primary, Gentner, Bernhard, additional, Galimberti, Stefania, additional, Fumagalli, Francesca, additional, Consiglieri, Giulia, additional, Filisetti, Chiara, additional, Darin, Silvia, additional, Sarzana, Marina, additional, Scarparo, Stefano, additional, Ciotti, Francesca, additional, De Pellegrin, Maurizio, additional, Silvani, Paolo, additional, Baldoli, Cristina, additional, Pontesilli, Silvia, additional, Parini, Rossella, additional, Gasperini, Serena, additional, Serafini, Marta, additional, Rovelli, Attilio, additional, Forni, Giulia, additional, la Marca, Giancarlo, additional, Ciceri, Fabio, additional, Naldini, Luigi, additional, Aiuti, Alessandro, additional, and Bernardo, Maria Ester, additional

Published
2022
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14. Wiskott–Aldrich syndrome: Oral findings and microbiota in children and review of the literature

Author

Lucchese, Alessandra, primary, Cenciarelli, Sabina, additional, Manuelli, Maurizio, additional, Marcolina, Marta, additional, Barzaghi, Federica, additional, Calbi, Valeria, additional, Migliavacca, Maddalena, additional, Bernardo, Maria Ester, additional, Tucci, Francesca, additional, Gallo, Vera, additional, Fraschetta, Federico, additional, Darin, Silvia, additional, Casiraghi, Miriam, additional, Aiuti, Alessandro, additional, Ferrua, Francesca, additional, and Cicalese, Maria Pia, additional

Published
2022
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15. Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome

Author

Gentner, Bernhard, primary, Tucci, Francesca, additional, Galimberti, Stefania, additional, Fumagalli, Francesca, additional, De Pellegrin, Maurizio, additional, Silvani, Paolo, additional, Camesasca, Chiara, additional, Pontesilli, Silvia, additional, Darin, Silvia, additional, Ciotti, Francesca, additional, Sarzana, Marina, additional, Consiglieri, Giulia, additional, Filisetti, Chiara, additional, Forni, Giulia, additional, Passerini, Laura, additional, Tomasoni, Daniela, additional, Cesana, Daniela, additional, Calabria, Andrea, additional, Spinozzi, Giulio, additional, Cicalese, Maria-Pia, additional, Calbi, Valeria, additional, Migliavacca, Maddalena, additional, Barzaghi, Federica, additional, Ferrua, Francesca, additional, Gallo, Vera, additional, Miglietta, Simona, additional, Zonari, Erika, additional, Cheruku, Patali S., additional, Forni, Claudia, additional, Facchini, Marcella, additional, Corti, Ambra, additional, Gabaldo, Michela, additional, Zancan, Stefano, additional, Gasperini, Serena, additional, Rovelli, Attilio, additional, Boelens, Jaap-Jan, additional, Jones, Simon A., additional, Wynn, Robert, additional, Baldoli, Cristina, additional, Montini, Eugenio, additional, Gregori, Silvia, additional, Ciceri, Fabio, additional, Valsecchi, Maria G., additional, la Marca, Giancarlo, additional, Parini, Rossella, additional, Naldini, Luigi, additional, Aiuti, Alessandro, additional, and Bernardo, Maria-Ester, additional

Published
2021
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16. Follicular helper T cell signature of replicative exhaustion, apoptosis and senescence in common variable immunodeficiency

Author

Milardi, Giulia, primary, Lorenzo, Biagio Di, additional, Gerosa, Jolanda, additional, Barzaghi, Federica, additional, Matteo, Gigliola Di, additional, Omrani, Maryam, additional, Jofra, Tatiana, additional, Merelli, Ivan, additional, Barcella, Matteo, additional, Ferrua, Francesca, additional, Giuffrida, Francesco Pozzo, additional, Dionisio, Francesca, additional, Rovere-Querini, Patrizia, additional, Marktel, Sarah, additional, Assanelli, Andrea, additional, Piemontese, Simona, additional, Brigida, Immacolata, additional, Zoccolillo, Matteo, additional, Cirillo, Emilia, additional, Giardino, Giuliana, additional, Danieli, Maria Giovanna, additional, Specchia, Fernando, additional, Pacillo, Lucia, additional, Cesare, Silvia Di, additional, Giancotta, Carmela, additional, Romano, Francesca, additional, Matarese, Alessandro, additional, Chetta, Alfredo Antonio, additional, Trimarchi, Matteo, additional, Laurenzi, Andrea, additional, Pellegrin, Maurizio De, additional, Darin, Silvia, additional, Montin, Davide, additional, Dellepiane, Rosa Maria, additional, Sordi, Valeria, additional, Lougaris, Vassilios, additional, Vacca, Angelo, additional, Melzi, Raffaella, additional, Nano, Rita, additional, Azzari, Chiara, additional, Bongiovanni, Lucia, additional, Pignata, Claudio, additional, Cancrini, Caterina, additional, Plebani, Alessandro, additional, Piemonti, Lorenzo, additional, Petrovas, Constantinos, additional, Ponzoni, Maurilio, additional, Aiuti, Alessandro, additional, Cicalese, Maria Pia, additional, and Fousteri, Georgia, additional

Published
2021
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17. Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome

Author

Gentner, B, Tucci, F, Galimberti, S, Fumagalli, F, De Pellegrin, M, Silvani, P, Camesasca, C, Pontesilli, S, Darin, S, Ciotti, F, Sarzana, M, Consiglieri, G, Filisetti, C, Forni, G, Passerini, L, Tomasoni, D, Cesana, D, Calabria, A, Spinozzi, G, Cicalese, M, Calbi, V, Migliavacca, M, Barzaghi, F, Ferrua, F, Gallo, V, Miglietta, S, Zonari, E, Cheruku, P, Forni, C, Facchini, M, Corti, A, Gabaldo, M, Zancan, S, Gasperini, S, Rovelli, A, Boelens, J, Jones, S, Wynn, R, Baldoli, C, Montini, E, Gregori, S, Ciceri, F, Valsecchi, M, la Marca, G, Parini, R, Naldini, L, Aiuti, A, Bernardo, M, Gentner, Bernhard, Tucci, Francesca, Galimberti, Stefania, Fumagalli, Francesca, De Pellegrin, Maurizio, Silvani, Paolo, Camesasca, Chiara, Pontesilli, Silvia, Darin, Silvia, Ciotti, Francesca, Sarzana, Marina, Consiglieri, Giulia, Filisetti, Chiara, Forni, Giulia, Passerini, Laura, Tomasoni, Daniela, Cesana, Daniela, Calabria, Andrea, Spinozzi, Giulio, Cicalese, Maria-Pia, Calbi, Valeria, Migliavacca, Maddalena, Barzaghi, Federica, Ferrua, Francesca, Gallo, Vera, Miglietta, Simona, Zonari, Erika, Cheruku, Patali S, Forni, Claudia, Facchini, Marcella, Corti, Ambra, Gabaldo, Michela, Zancan, Stefano, Gasperini, Serena, Rovelli, Attilio, Boelens, Jaap-Jan, Jones, Simon A, Wynn, Robert, Baldoli, Cristina, Montini, Eugenio, Gregori, Silvia, Ciceri, Fabio, Valsecchi, Maria G, la Marca, Giancarlo, Parini, Rossella, Naldini, Luigi, Aiuti, Alessandro, Bernardo, Maria-Ester, Gentner, B, Tucci, F, Galimberti, S, Fumagalli, F, De Pellegrin, M, Silvani, P, Camesasca, C, Pontesilli, S, Darin, S, Ciotti, F, Sarzana, M, Consiglieri, G, Filisetti, C, Forni, G, Passerini, L, Tomasoni, D, Cesana, D, Calabria, A, Spinozzi, G, Cicalese, M, Calbi, V, Migliavacca, M, Barzaghi, F, Ferrua, F, Gallo, V, Miglietta, S, Zonari, E, Cheruku, P, Forni, C, Facchini, M, Corti, A, Gabaldo, M, Zancan, S, Gasperini, S, Rovelli, A, Boelens, J, Jones, S, Wynn, R, Baldoli, C, Montini, E, Gregori, S, Ciceri, F, Valsecchi, M, la Marca, G, Parini, R, Naldini, L, Aiuti, A, Bernardo, M, Gentner, Bernhard, Tucci, Francesca, Galimberti, Stefania, Fumagalli, Francesca, De Pellegrin, Maurizio, Silvani, Paolo, Camesasca, Chiara, Pontesilli, Silvia, Darin, Silvia, Ciotti, Francesca, Sarzana, Marina, Consiglieri, Giulia, Filisetti, Chiara, Forni, Giulia, Passerini, Laura, Tomasoni, Daniela, Cesana, Daniela, Calabria, Andrea, Spinozzi, Giulio, Cicalese, Maria-Pia, Calbi, Valeria, Migliavacca, Maddalena, Barzaghi, Federica, Ferrua, Francesca, Gallo, Vera, Miglietta, Simona, Zonari, Erika, Cheruku, Patali S, Forni, Claudia, Facchini, Marcella, Corti, Ambra, Gabaldo, Michela, Zancan, Stefano, Gasperini, Serena, Rovelli, Attilio, Boelens, Jaap-Jan, Jones, Simon A, Wynn, Robert, Baldoli, Cristina, Montini, Eugenio, Gregori, Silvia, Ciceri, Fabio, Valsecchi, Maria G, la Marca, Giancarlo, Parini, Rossella, Naldini, Luigi, Aiuti, Alessandro, and Bernardo, Maria-Ester

Abstract

Background Allogeneic hematopoietic stem-cell transplantation is the standard of care for Hurler syndrome (mucopolysaccharidosis type I, Hurler variant [MPSIH]). However, this treatment is only partially curative and is associated with complications. Methods We are conducting an ongoing study involving eight children with MPSIH. At enrollment, the children lacked a suitable allogeneic donor and had a Developmental Quotient or Intelligence Quotient score above 70 (i.e., none had moderate or severe cognitive impairment). The children received autologous hematopoietic stem and progenitor cells (HSPCs) transduced ex vivo with an alpha-L-iduronidase (IDUA)-encoding lentiviral vector after myeloablative conditioning. Safety and correction of blood IDUA activity up to supraphysiologic levels were the primary end points. Clearance of lysosomal storage material as well as skeletal and neurophysiological development were assessed as secondary and exploratory end points. The planned duration of the study is 5 years. Results We now report interim results. The children's mean (+/- SD) age at the time of HSPC gene therapy was 1.9 +/- 0.5 years. At a median follow-up of 2.10 years, the procedure had a safety profile similar to that known for autologous hematopoietic stem-cell transplantation. All the patients showed prompt and sustained engraftment of gene-corrected cells and had supraphysiologic blood IDUA activity within a month, which was maintained up to the latest follow-up. Urinary glycosaminoglycan (GAG) excretion decreased steeply, reaching normal levels at 12 months in four of five patients who could be evaluated. Previously undetectable levels of IDUA activity in the cerebrospinal fluid became detectable after gene therapy and were associated with local clearance of GAGs. Patients showed stable cognitive performance, stable motor skills corresponding to continued motor development, improved or stable findings on magnetic resonance imaging of the brain and spine, reduced

Published
2021

18. Successful Treatment With Ledipasvir/Sofosbuvir in an Infant With Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency With HCV Allowed Gene Therapy with Strimvelis

Author

Tucci, Francesca, primary, Calbi, Valeria, additional, Barzaghi, Federica, additional, Migliavacca, Maddalena, additional, Ferrua, Francesca, additional, Bernardo, Maria Ester, additional, Canarutto, Daniele, additional, Consiglieri, Giulia, additional, Recupero, Salvatore, additional, Calzatini, Francesco, additional, Gabaldo, Michela, additional, Lucano, Caterina, additional, Casiraghi, Miriam, additional, Darin, Silvia, additional, Dionisio, Francesca, additional, Marktel, Sarah, additional, Cestone, Enza, additional, Finazzi, Renato, additional, Mieli‐Vergani, Giorgina, additional, Boeri, Enzo, additional, Appleby, Jonathan, additional, Abd Elaziz, Dalia, additional, Ciceri, Fabio, additional, Aiuti, Alessandro, additional, and Cicalese, Maria Pia, additional

Published
2018
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19. Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency

Author

Giulia Milardi, Biagio Di Lorenzo, Jolanda Gerosa, Federica Barzaghi, Gigliola Di Matteo, Maryam Omrani, Tatiana Jofra, Ivan Merelli, Matteo Barcella, Matteo Filippini, Anastasia Conti, Francesca Ferrua, Francesco Pozzo Giuffrida, Francesca Dionisio, Patrizia Rovere‐Querini, Sarah Marktel, Andrea Assanelli, Simona Piemontese, Immacolata Brigida, Matteo Zoccolillo, Emilia Cirillo, Giuliana Giardino, Maria Giovanna Danieli, Fernando Specchia, Lucia Pacillo, Silvia Di Cesare, Carmela Giancotta, Francesca Romano, Alessandro Matarese, Alfredo Antonio Chetta, Matteo Trimarchi, Andrea Laurenzi, Maurizio De Pellegrin, Silvia Darin, Davide Montin, Maddalena Marinoni, Rosa Maria Dellepiane, Valeria Sordi, Vassilios Lougaris, Angelo Vacca, Raffaella Melzi, Rita Nano, Chiara Azzari, Lucia Bongiovanni, Claudio Pignata, Caterina Cancrini, Alessandro Plebani, Lorenzo Piemonti, Constantinos Petrovas, Raffaella Di Micco, Maurilio Ponzoni, Alessandro Aiuti, Maria Pia Cicalese, Georgia Fousteri, Milardi, Giulia, Di Lorenzo, Biagio, Gerosa, Jolanda, Barzaghi, Federica, Di Matteo, Gigliola, Omrani, Maryam, Jofra, Tatiana, Merelli, Ivan, Barcella, Matteo, Filippini, Matteo, Conti, Anastasia, Ferrua, Francesca, Pozzo Giuffrida, Francesco, Dionisio, Francesca, Rovere-Querini, Patrizia, Marktel, Sarah, Assanelli, Andrea, Piemontese, Simona, Brigida, Immacolata, Zoccolillo, Matteo, Cirillo, Emilia, Giardino, Giuliana, Danieli, Maria Giovanna, Specchia, Fernando, Pacillo, Lucia, Di Cesare, Silvia, Giancotta, Carmela, Romano, Francesca, Matarese, Alessandro, Chetta, Alfredo Antonio, Trimarchi, Matteo, Laurenzi, Andrea, De Pellegrin, Maurizio, Darin, Silvia, Montin, Davide, Marinoni, Maddalena, Dellepiane, Rosa Maria, Sordi, Valeria, Lougaris, Vassilio, Vacca, Angelo, Melzi, Raffaella, Nano, Rita, Azzari, Chiara, Bongiovanni, Lucia, Pignata, Claudio, Cancrini, Caterina, Plebani, Alessandro, Piemonti, Lorenzo, Petrovas, Constantino, Di Micco, Raffaella, Ponzoni, Maurilio, Aiuti, Alessandro, Cicalese, Maria Pia, Fousteri, Georgia, and Giuffrida, Francesco Pozzo

Subjects
T cell exhaustion, B cells, B cell, T Follicular Helper Cells, Immunology, Programmed Cell Death 1 Receptor, Apoptosi, Apoptosis, T-Lymphocytes, Helper-Inducer, Common variable immunodeficiency, Common Variable Immunodeficiency, Settore MED/02, T-cell exhaustion, Immune aging, Humans, T follicular helper cells, Immunology and Allergy, T Follicular Helper Cell, immune aging, Human
Abstract

Common variable immunodeficiency (CVID) is the most frequent primary antibody deficiency whereby follicular helper T (Tfh) cells fail to establish productive responses with B cells in germinal centers. Here, we analyzed the frequency, phenotype, transcriptome and function of circulating Tfh (cTfh) cells in CVID patients displaying autoimmunity as an additional phenotype. A group of patients showed a high frequency of cTfh1 cells and a prominent expression of PD-1 and ICOS, as well as a cTfh mRNA signature consistent with highly activated, but exhausted, senescent and apoptotic cells. Plasmatic CXCL13 levels were elevated in this group and positively correlated with cTfh1 cell frequency and PD-1 levels. Monoallelic variants in RTEL1, a telomere length- and DNA repair-related gene, were identified in four patients belonging to this group. Their blood lymphocytes showed shortened telomeres, while their cTfh were more prone to apoptosis. These data point toward a novel pathogenetic mechanism in CVID, whereby alterations in DNA repair and telomere elongation might predispose to antibody deficiency. A Th1, highly activated but exhausted and apoptotic cTfh phenotype was associated with this form of CVID. This article is protected by copyright. All rights reserved.

Published
2022
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20. Successful Treatment With Ledipasvir/Sofosbuvir in an Infant With Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency With HCV Allowed Gene Therapy with Strimvelis

Author

Francesca Ferrua, Maria Ester Bernardo, Maria Pia Cicalese, Francesca Tucci, Federica Barzaghi, Giulia Consiglieri, Jonathan Appleby, Daniele Canarutto, Francesco Calzatini, Michela Gabaldo, Silvia Darin, Francesca Dionisio, Caterina Lucano, Sarah Marktel, Maddalena Migliavacca, Enza Cestone, Miriam Casiraghi, Renato Finazzi, Giorgina Mieli-Vergani, Dalia Abd Elaziz, Salvatore Recupero, Valeria Calbi, Alessandro Aiuti, Fabio Ciceri, Enzo Boeri, Tucci, Francesca, Calbi, Valeria, Barzaghi, Federica, Migliavacca, Maddalena, Ferrua, Francesca, Bernardo, Maria Ester, Canarutto, Daniele, Consiglieri, Giulia, Recupero, Salvatore, Calzatini, Francesco, Gabaldo, Michela, Lucano, Caterina, Casiraghi, Miriam, Darin, Silvia, Dionisio, Francesca, Marktel, Sarah, Cestone, Enza, Finazzi, Renato, Mieli-Vergani, Giorgina, Boeri, Enzo, Appleby, Jonathan, Elaziz, Dalia Abd, Ciceri, Fabio, Aiuti, Alessandro, and Cicalese, Maria Pia

Subjects
0301 basic medicine, Male, Strimvelis, Adenosine Deaminase, Genetic enhancement, Antiviral Agents, Clinical Observations in Hepatology, 03 medical and health sciences, 0302 clinical medicine, Agammaglobulinemia, medicine, Humans, Severe combined immunodeficiency, Fluorenes, Hepatology, business.industry, Infant, Genetic Therapy, medicine.disease, Virology, Hepatitis C, Adenosine deaminase deficiency, 030104 developmental biology, LEDIPASVIR/SOFOSBUVIR, 030211 gastroenterology & hepatology, Benzimidazoles, Severe Combined Immunodeficiency, Sofosbuvir, business, Uridine Monophosphate
Abstract

Patients with inborn error diseases can be candidates for autologous haematopoietic stem cells (HSC) gene therapies (GT) but may require negative viral screening, including Hepatitis C (HCV), to allow HSC manipulation in Good Manufacturing Practices areas. In case of HCV positivity, patients might be excluded from life-saving treatments. As HCV antibodies could be negative in young infant immunodeficient patients due to their immature/impaired immune system, or positive due to maternal-fetal antibody transmission, the risk is usually also evaluated on the basis of the HCV-RNA. This article is protected by copyright. All rights reserved.

Published
2018

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