Gene Therapy for X-Linked Severe Combined Immunodeficiency: Where Do We Stand?

被引：70

作者：

Cavazzana, Marina ^{[1
,2
,3
,4
]}

Six, Emmanuelle ^{[2
,3
,4
]}

Lagresle-Peyrou, Chantal ^{[2
,3
,4
]}

Andre-Schmutz, Isabelle ^{[2
,3
,4
,5
]}

Hacein-Bey-Abina, Salima ^{[1
,2
,6
]}

机构：

[1] Necker Childrens Hosp, AP HP, Biotherapy Dept, F-75015 Paris, France

[2] Grp Hosp Univ Ouest, AP HP, INSERM, Biotherapy Clin Invest Ctr, Paris, France

[3] Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France

[4] INSERM, UMR 1163, Lab Human Lymphohematopoiesis, Paris, France

[5] Univ Paris 05, UTCBS CNRS 8258, INSERM, U1022,Fac Sci Pharmaceut & Biol, Paris, France

[6] Grp Hosp Univ Paris Sud, AP HP, Immunol Lab, 78 Rue Gen Leclerc, F-94270 Le Kremlin Bicetre, France

来源：

HUMAN GENE THERAPY | 2016年 / 27卷 / 02期

基金：

欧洲研究理事会;

关键词：

INTEGRATION SITE SELECTION; INTERLEUKIN-2-RECEPTOR GAMMA-CHAIN; HEMATOPOIETIC PROGENITOR CELLS; CHRONIC GRANULOMATOUS-DISEASE; VECTOR INTEGRATION; INSERTIONAL MUTAGENESIS; LENTIVIRAL VECTOR; GAMMARETROVIRAL VECTORS; CLONAL-TRACKING; DEFICIENT MICE;

D O I：

10.1089/hum.2015.137

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

More than 20 years ago, X-linked severe combined immunodeficiency (SCID-X1) appeared to be the best condition to test the feasibility of hematopoietic stem cell gene therapy. The seminal SCID-X1 clinical studies, based on first-generation gammaretroviral vectors, demonstrated good long-term immune reconstitution in most treated patients despite the occurrence of vector-related leukemia in a few of them. This gene therapy has successfully enabled correction of the T cell defect. Natural killer and B cell defects were only partially restored, most likely due to the absence of a conditioning regimen. The success of these pioneering trials paved the way for the extension of gene-based treatment to many other diseases of the hematopoietic system, but the unfortunate serious adverse events led to extensive investigations to define the retrovirus integration profiles. This review puts into perspective the clinical experience of gene therapy for SCID-X1, with the development and implementation of new generations of safer vectors such as self-inactivating gammaretroviral or lentiviral vectors as well as major advances in integrome knowledge.

引用

页码：108 / 116

页数：9

共 79 条

[1] Outcomes Following Gene Therapy in Patients With Severe Wiskott-Aldrich Syndrome [J].

Abina, Salima Hacein-Bey ;

Gaspar, H. Bobby ;

Blondeau, Johanna ;

Caccavelli, Laure ;

Charrier, Sabine ;

Buckland, Karen ;

Picard, Capucine ;

Six, Emmanuelle ;

Himoudi, Nourredine ;

Gilmour, Kimberly ;

McNicol, Anne-Marie ;

Hara, Havinder ;

Xu-Bayford, Jinhua ;

Rivat, Christine ;

Touzot, Fabien ;

Mavilio, Fulvio ;

Lim, Annick ;

Treluyer, Jean-Marc ;

Heritier, Sebastien ;

Lefrere, Francois ;

Magalon, Jeremy ;

Pengue-Koyi, Isabelle ;

Honnet, Geraldine ;

Blanche, Stephane ;

Sherman, Eric A. ;

Male, Frances ;

Berry, Charles ;

Malani, Nirav ;

Bushman, Frederic D. ;

Fischer, Alain ;

Thrasher, Adrian J. ;

Galy, Anne ;

Cavazzana, Marina .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2015, 313 (15) :1550-1563

[2] Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome [J].

Aiuti, Alessandro ;

Biasco, Luca ;

Scaramuzza, Samantha ;

Ferrua, Francesca ;

Cicalese, Maria Pia ;

Baricordi, Cristina ;

Dionisio, Francesca ;

Calabria, Andrea ;

Giannelli, Stefania ;

Castiello, Maria Carmina ;

Bosticardo, Marita ;

Evangelio, Costanza ;

Assanelli, Andrea ;

Casiraghi, Miriam ;

Di Nunzio, Sara ;

Callegaro, Luciano ;

Benati, Claudia ;

Rizzardi, Paolo ;

Pellin, Danilo ;

Di Serio, Clelia ;

Schmidt, Manfred ;

Von Kalle, Christof ;

Gardner, Jason ;

Mehta, Nalini ;

Neduva, Victor ;

Dow, David J. ;

Galy, Anne ;

Miniero, Roberto ;

Finocchi, Andrea ;

Metin, Ayse ;

Banerjee, Pinaki P. ;

Orange, Jordan S. ;

Galimberti, Stefania ;

Valsecchi, Maria Grazia ;

Biffi, Alessandra ;

Montini, Eugenio ;

Villa, Anna ;

Ciceri, Fabio ;

Roncarolo, Maria Grazia ;

Naldini, Luigi .

SCIENCE, 2013, 341 (6148) :865-U71

[3] Bioinformatic Clonality Analysis of Next-Generation Sequencing-Derived Viral Vector Integration Sites [J].

Arens, Anne ;

Appelt, Jens-Uwe ;

Bartholomae, Cynthia C. ;

Gabriel, Richard ;

Paruzynski, Anna ;

Gustafson, Derek ;

Cartier, Nathalie ;

Aubourg, Patrick ;

Deichmann, Annette ;

Glimm, Hanno ;

von Kalle, Christof ;

Schmidt, Manfred .

HUMAN GENE THERAPY METHODS, 2012, 23 (02) :111-118

[4] B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans [J].

Avery, Danielle T. ;

Deenick, Elissa K. ;

Ma, Cindy S. ;

Suryani, Santi ;

Simpson, Nicholas ;

Chew, Gary Y. ;

Chan, Tyani D. ;

Palendira, Umamainthan ;

Bustamante, Jacinta ;

Boisson-Dupuis, Stephanie ;

Choo, Sharon ;

Bleasel, Karl E. ;

Peake, Jane ;

King, Cecile ;

French, Martyn A. ;

Engelhard, Dan ;

Al-Hajjar, Sami ;

Al-Muhsen, Saleh ;

Magdorf, Klaus ;

Roesler, Joachim ;

Arkwright, Peter D. ;

Hissaria, Pravin ;

Riminton, D. Sean ;

Wong, Melanie ;

Brink, Robert ;

Fulcher, David A. ;

Casanova, Jean-Laurent ;

Cook, Matthew C. ;

Tangye, Stuart G. .

JOURNAL OF EXPERIMENTAL MEDICINE, 2010, 207 (01) :155-171

[5] Concise Review: Managing Genotoxicity in the Therapeutic Modification of Stem Cells [J].

Baum, Christopher ;

Modlich, Ute ;

Goehring, Gudrun ;

Schlegelberger, Brigitte .

STEM CELLS, 2011, 29 (10) :1479-1484

[6] Estimating abundances of retroviral insertion sites from DNA fragment length data [J].

Berry, Charles C. ;

Gillet, Nicolas A. ;

Melamed, Anat ;

Gormley, Niall ;

Bangham, Charles R. M. ;

Bushman, Frederic D. .

BIOINFORMATICS, 2012, 28 (06) :755-762

[7] In vivo tracking of T cells in humans unveils decade-long survival and activity of genetically modified T memory stem cells [J].

Biasco, Luca ;

Scala, Serena ;

Ricci, Luca Basso ;

Dionisio, Francesca ;

Baricordi, Cristina ;

Calabria, Andrea ;

Giannelli, Stefania ;

Cieri, Nicoletta ;

Barzaghi, Federica ;

Pajno, Roberta ;

Al-Mousa, Hamoud ;

Scarselli, Alessia ;

Cancrini, Caterina ;

Bordignon, Claudio ;

Roncarolo, Maria Grazia ;

Montini, Eugenio ;

Bonini, Chiara ;

Aiuti, Alessandro .

SCIENCE TRANSLATIONAL MEDICINE, 2015, 7 (273) :273ra13

[8] Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy [J].

Biffi, Alessandra ;

Montini, Eugenio ;

Lorioli, Laura ;

Cesani, Martina ;

Fumagalli, Francesca ;

Plati, Tiziana ;

Baldoli, Cristina ;

Martino, Sabata ;

Calabria, Andrea ;

Canale, Sabrina ;

Benedicenti, Fabrizio ;

Vallanti, Giuliana ;

Biasco, Luca ;

Leo, Simone ;

Kabbara, Nabil ;

Zanetti, Gianluigi ;

Rizzo, William B. ;

Mehta, Nalini A. L. ;

Cicalese, Maria Pia ;

Casiraghi, Miriam ;

Boelens, Jaap J. ;

Del Carro, Ubaldo ;

Dow, David J. ;

Schmidt, Manfred ;

Assanelli, Andrea ;

Neduva, Victor ;

Di Serio, Clelia ;

Stupka, Elia ;

Gardner, Jason ;

von Kalle, Christof ;

Bordignon, Claudio ;

Ciceri, Fabio ;

Rovelli, Attilio ;

Roncarolo, Maria Grazia ;

Aiuti, Alessandro ;

Sessa, Maria ;

Naldini, Luigi .

SCIENCE, 2013, 341 (6148) :864-U58

[9] Lentiviral vector common integration sites in preclinical models and a clinical trial reflect a benign integration bias and not oncogenic selection [J].

Biffi, Alessandra ;

Bartholomae, Cynthia C. ;

Cesana, Daniela ;

Cartier, Natalie ;

Aubourg, Patrik ;

Ranzani, Marco ;

Cesani, Martina ;

Benedicenti, Fabrizio ;

Plati, Tiziana ;

Rubagotti, Enrico ;

Merella, Stefania ;

Capotondo, Alessia ;

Sgualdino, Jacopo ;

Zanetti, Gianluigi ;

von Kalle, Christof ;

Schmidt, Manfred ;

Naldini, Luigi ;

Montini, Eugenio .

BLOOD, 2011, 117 (20) :5332-5339

[10] Gene Therapy for Wiskott-Aldrich Syndrome-Long-Term Efficacy and Genotoxicity [J].

Braun, Christian Joerg ;

Boztug, Kaan ;

Paruzynski, Anna ;

Witzel, Maximilian ;

Schwarzer, Adrian ;

Rothe, Michael ;

Modlich, Ute ;

Beier, Rita ;

Goehring, Gudrun ;

Steinemann, Doris ;

Fronza, Raffaele ;

Ball, Claudia Regina ;

Haemmerle, Reinhard ;

Naundorf, Sonja ;

Kuelcke, Klaus ;

Rose, Martina ;

Fraser, Chris ;

Mathias, Liesl ;

Ferrari, Rudolf ;

Abboud, Miguel R. ;

Al-Herz, Waleed ;

Kondratenko, Irina ;

Marodi, Laszlo ;

Glimm, Hanno ;

Schlegelberger, Brigitte ;

Schambach, Axel ;

Albert, Michael Heinrich ;

Schmidt, Manfred ;

von Kalle, Christof ;

Klein, Christoph .

SCIENCE TRANSLATIONAL MEDICINE, 2014, 6 (227)

← 1 2 3 4 5 6 7 8 →