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674 Long Term Safety of Clinical Grade LentiGlobin Vectors in a γ Thalassemic and Normal Mice Molecular Therapy Volume 21, Supplement 1, May 2013 Copyright © The American Society of Gene & Cell Thera[.]

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Molecular Therapy Volume 21, Supplement 1, May 2013

Copyright © The American Society of Gene & Cell Therapy S257

HEMATOLOGIC AND IMMUNOLOGIC GENE & CELL THERAPY II

672 Transduction of Human CD34+ Cells in

the NOD SCIDγ (NSG) Mouse Model Using

Lenti-hWASP-Vectors Derived from Stable Producer

Clones

Matthew M Wielgosz,1 Yoon S Kim,1 Robert E Throm,1 Gael G

Carney,1 John T Gray,1 Arthur W Nienhuis.1

1 Experimental Hematology, St Jude Children’s Research Hospital,

Memphis, TN.

We have developed several producer clones for a Lenti-human

Wiskott Aldrich Syndrome Protein (hWASP) vector We previously

demonstrated (14th ASGCT Meeting, 2012) that concentrated vector

preparations from these clones transduced human CD34+ cells at

levels generally higher than preparations derived by concentrating

culture media from transfected cells, as assessed by PCR of clones

derived from transduced CFU-Cs Here we demonstrate that vector

preparations from 3 different producer clones transduced CD34+ cells

at levels (23%, 40%, and 46%) comparable to transiently derived GFP

and hWASP vector preparations (26% and 36%, respectively), with

MOIs ranging from 50-100 Following transplantation of human cells

into NSG mice (tail vain injection), harvest of human CD45+ cells

from murine bone marrow (BM) 3 months post transplantation (tibia

and fi bula), and inoculation of 100,000 BM-derived human CD45+

cells into methocult cultures, the percentages of hWASP PCR(+)

or GFP(+) CFU-Cs were higher for producer cell-derived vector

preparations (22%, 37%, and 57%) than those from transiently-derived

preparations (3.3% and 8.4% for hWASP and GFP, respectively),

despite similar levels of human CD45+ engraftment (ranging 11.3

to 20%) We used a vector preparation from one producer clone

(hWASP1) in a second CD34+-NSG transplant experiment, to examine

the effects of several small molecules and varied MOI on CD34+

transduction and engraftment, 3 months post-transplant Nicotinamide

(NAM) and EX527 (both SIRT1 inhibitors) increased human CD45+

engraftment levels (26% and 30%, respectively) over the untreated

control group (16.3%), but yielded decreased transduction levels

(25% and 7%, respectively, vs 37%) Interestingly, the addition of

stromal derived factor 1 alpha (SDF-1) to NAM-treated CD34+ cells

appeared to reverse the NAM-transduction defect (31% vs 17%), and

enhance human CD45+ engraftment levels (23% vs 14%) We also

observed that CD34+ cells that underwent a second transduction had

decreased human CD45+ engraftment levels (2.9%) over the control

group (16%), but had the highest human CD45+ cell transduction

level (55%) In addition, when WPRE mRNA expression levels were

measured by qRT-PCR (a surrogate to estimate hWASP expression

in CD45+ cells sorted from NSG BM), WPRE expression levels

averaged 81% of an RNA control derived from a transduced Jurkat

cell line (MOI 100), whereas the single transduction control group

averaged 44%, normalized to VCN These results confi rm that vector

preparations derived from our lenti-hWASP producer clone transduce

CD34+ cells at levels higher than those obtained from transient

vector preparations as assayed in the NSG mouse transplant model

Importantly, we demonstrate that the evaluation of the transduction

and engraftment of stem repopulating cells (SRCs) in the CD34+

-NSG mouse transplant model can be used to optimize transduction

conditions These fi ndings support our plans to utilize this producer

clone to make vector for our clinical trial

Vector Based Gene Therapy for SCID-X1

Gabrielle M Curinga,1 Iram Khan,1 Swati Singh,1 Joey Pangallo,1

Brian Beard,4,5 Troy Torgerson,1,2 Andrew Scharenberg,1,2 Grant Trobridge,6,7 Hans-Peter Kiem,4,5 David Rawlings.1,2

1 Center for Immunity and Immunotherapies, Seattle Children’s Research Institute, Seattle; 2 Immunology and Pediatrics, University of Washington School of Medicine, Seattle; 3 Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle; 4 University of Washington School of Medicine, Seattle;

5 Pharmaceutical Sciences, Washington State University, Pullman, Washington; 6 School of Molecular Biosciences, Pullman.

X-linked severe-combined immune defi ciency (SCID-X1) results from inactivating mutations in the gene encoding the common gamma chain (c), a receptor sub-unit required for lymphoid development and cell function Unless successfully treated by hematopoietic stem cell transplantation, SCID-X1 is fatal within the fi rst years of life While HLA matched allogenic stem cell transplantation boasts survival rates exceeding 90%, such donors are rarely available and use of alternative stem cells sources results in poorer outcomes Thus, gene replacement therapy has emerged as a promising alternative for SCID-X1 patients lacking suitable donors Pioneering c gene replacement clinical trials demonstrated effi cacy, but also the need for improved safety due to adverse events associated with the gamma-retroviral delivery platform Although new self-inactivating (SIN) gamma-retroviral and lentiviral vectors appear to offer improved safety profi les relative to the original gamma-retroviral vector, the lack of native pathogenicity

of foamy viruses and an integration site profi le that is much less focused on either active genes or promoter regions than lentiviruses

or gamma-retroviruses suggest that FV vectors are the safest available platform for c gene replacement therapy We therefore initiated studies to determine whether clinical FV vectors driving transcription of human c will rescue lymphocyte development and function in SCID-X1 mice and in human cells; and whether this can

be achieved without evidence of toxicity Transduction of a human

T cell line lacking c with FV c vectors demonstrated high-level sustained c expression Further, FV transduction restored IL2, IL7,

or IL21 stimulation-dependent phospho-STAT3 or pSTAT5 signals Next, we established protocols resulting in consistent marking of purifi ed lineage depleted (lin-) murine hematopoietic stem cells (HSC) Co-culture of FV-transduced SCID-X1 HSC on a

Notch-ligand expressing stromal cell line, OP9-Delta 1, led to effi cient in

vitro T cell differentiation Thus, transduction with the FV c vector facilitates rescue of c expression and signaling in human cell lines

and in vitro T cell development of murine SCID-X1 HSC In vivo

functional recovery and integration site profi ling is currently being assessed using in SCID-X1 mice transplanted with FV c vector transduced HSC

LentiGlobin Vectors in a β-Thalassemic and Normal Mice

Olivier Negre,1 Cynthia Bartholoma,2 Robert Kutner,3 Beatrix Gillet-Legrand,1 Celine Courne,1 Anais Paulard,1 Byoung Ryu,3

Maria Denaro,3 Christof von Kalle,2 Emmanual Payan,4 Michell Finer,3 Gabor Veres.3

1 Bluebird Bio Inc, MA USA, Fontenay aux Roses, France;

2 DKFZ, National Center for Tumor Diseases (NCT), Heilderberg, Germany; 3 Bluebird Bio Inc, Cambridge; 4 Institute of Emerging Diseases and Innovative Therapies (iMETI), CEA, Fontenay aux Roses, France.

The long term safety of an improved LentiGlobin vector was evaluated by transplanting transduced Lin-depleted bone marrow cells isolated from-thalassemia (Hbbth1/th1) mice into syngeneic

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Molecular Therapy Volume 21, Supplement 1, May 2013 Copyright © The American Society of Gene & Cell Therapy

S258

HEMATOLOGIC AND IMMUNOLOGIC GENE & CELL THERAPY II

myeloablated recipients The therapeutic effi cacies and potential

toxicity (histopathology, hematology) and insertion site analyses

were analyzed in 54 primary transplants A signifi cant improvement

of hemoglobin concentration, hematocrit level, red blood cell counts

and reticulocyte percentage were observed in mice transplanted with

bone marrow cells transduced with the LentiGlobin HPV569 lentiviral

vector or the LentiGlobin BB305 lentiviral vector compared to the

group transplanted with untransduced cells in the primary recipients

The improvement of -thalassemic phenotype was similar between

mice transplanted with cells transduced with LentiGlobin HPV569

lentiviral vector and mice transplanted with cells transduced with

LentiGlobin BB305 lentiviral vector No toxicological changes

were observed in the treated groups A comparative large scale

integration site analysis has been performed on mouse bone marrow

samples transduced with the LentiGlobin HPV569 vector and with

the LentiGlobin BB305 lentiviral vector and the analyses of the pre

transplant samples showed a highly polyclonal vector integration

profi le in both LentiGlobin vectors (BB305, HPV569) IS analyses in

samples derived from the transplanted - thalassemic (Hbb th1/th1)

mice revealed an oligo-/polyclonal hematopoietic repopulation for

both LentiGlobin (BB305: 3508 unique IS; HPV569: 4257 unique IS)

vectors Secondary transplants were also conducted (total of 108 mice)

to evaluate the toxicity of LentiGlobin vectors BB305 and HPV569 in

CD45.1 C57BL/6 mice following a single intravenous administration

of “secondary” bone marrow obtained from -thalassemic Hbb th1/

th1mice originally transplanted four months earlier with syngeneic

Lin depleted mouse bone marrow cells transduced with LentiGlobin

BB305 and Lentiglobin HPV 569 lentiviral vectors The secondary

transplant mice are sacrificed and necropsied six months after

transplantation and an extensive histopathology evaluation are

performed to assess hematopoietic homeostatis, clinical chemistry,

hematology and bone marrow cytology In addition, comprehensive IS

analyzes is being performed on DNA samples isolated from the bone

marrow of the secondary recipients.A comprehensive data set will

be presented on both the primary and secondary transplant animals

Insulated LV Driven by FANCA-Promoter towards

GT in Fanconi’s Anemia

Emilie Bayart,1 Caroline Duros,1 Alexandre Artus,1 Stephanie

Lemaire,1 Odile Y D Cohen-Haguenauer.1,2

1 CNRS UMR 8113, Ecole Normale Superieure de Cachan, Cachan,

France; 2 Oncogenetics-Medical Oncology, Hopital St-Louis

Sorbonne Paris-Cité, Faculté de Médecine Paris-Diderot, Paris,

France.

Fanconi anemia is a rare inherited genomic instability syndrome,

with severe bone-Marrow (BM) defi ciency developing around age 7

The 15 known genes are involved in DNA repair, redox metabolism

and differentiation FA patients’ cells exhibit hypersensitivity to DNA

crosslinking agents such as Mitomycin C (MMC) In a previous study,

we have: (i) demonstrated that BM dysfunction can be ameliorated

in protecting cells from oxidative stress in growing cells with both

hypoxia and N-Actyl-Cystein in the culture medium and (ii) achieved

in vitro and in vivo long-term reconstitution with retrovirus transduced

cells from unfractionated patients’ BM (Cohen-Haguenauer et al,

2006) With view to reducing the risk for GT induced malignancies

in this cancer-prone disease, we have developed a new generation of

genetically stable insulated vectors which have been used to shuttle the

FANCA cDNA Transduction of HSC72 FA cells resulted in functional

correction with overcoming the G2M block on high doses MMC

and restoring FancD2 mono-ubiquitination In genetically corrected

primary mesenchymal cells from FANCA-/- patients the transgene

is stably expressed and the insulator sequences preserved after 18

months of sustained growth Three different internal promoters –

with distinct potentials- have been tested: the strong viral derived

Fr-MuLV-U3, the housekeeping hPGK or the FANCA homologous promotor (FANCendo) that we have engineered The latter mediates low basal expression levels with EGFP1 mean fl uorescence reduced

by one and two ranges compared to hPGK or viral promoters, respectively In primary MSCs cells grown under Mitomycin C while retrieving protection from oxidative stress, the earliest and most signifi cant recovery is monitored in cells transduced with FANCendo Data will be shown in CD34+ cells effi ciently transduced with the FANCendoInsLV and grown over 8 weeks in LTCIC without toxicity and patients’ samples This new insulated lentivector driven by FANCA-homologous promoter shows improved safety and effi cacy profi le towards gene therapy in Fanconi’s anemia

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