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Cited by 171

The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.

Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome

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·2021·New England Journal of Medicine
DOI 10.1056/nejmoa2106596
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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 α-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 glycosaminogl…

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Research works printed but not linked: 32

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Metadata

Authors
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.-P., Calbi, V., Migliavacca, M., Barzaghi, F., Ferrua, F., Gallo, V., Miglietta, S., Zonari, E., Cheruku, P. S., Forni, C., Facchini, M., Corti, A., Gabaldo, M., Zancan, S., Gasperini, S., Rovelli, A., Boelens, J.-J., Jones, S. A., Wynn, R., Baldoli, C., Montini, E., Gregori, S., Ciceri, F., Valsecchi, M. G., la Marca, G., Parini, R., Naldini, L., Aiuti, A., & Bernardo, M.-E.
Affiliations
From the Departments of Hematology and Bone Marrow Transplantation (B.G., F. Ciceri), Pediatric Immunohematology and Bone Marrow Transplantation (F.T., F. Fumagalli, S.D., F. Ciotti, M.S., G.C., C. Filisetti, M.-P.C., V.C., M.M., F.B., F. Ferrua, V.G., A.A., M.-E.B.), Neurology and Neurophysiology (F. Fumagalli), Pediatric Orthopedics (M.D.P.), Anesthesia and Critical Care (P.S.), Pediatric Cardiology (C.C.), and Neuroradiology (S.P., C.B.) and the San Raffaele Telethon Institute for Gene Therapy (B.G., F.T., F. Fumagalli, L.P., D.T., D.C., A.C., G.S., M.-P.C., V.C., M.M., F.B., F. Ferrua, V.G., S.M., E.Z., P.S.C., M.F., A.C., E.M., S. Gregori, R.P., L.N., A.A., M.-E.B.), IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University (F. Ciceri, L.N., A.A., M.-E.B.), and Bicocca Bioinformatics, Biostatistics, and Bioimaging Center, School of Medicine and Surgery, University of Milano–Bicocca (S. Galimberti, M.G.V.), Milan, Fondazione Telethon, Rome (C. Forni, M.G., S.Z.), the Department of Ex...
ORCID
Venue
New England Journal of Medicine
Publisher
Massachusetts Medical Society
Published
2021-11-18
Volume
385
Issue
21
Pages
1929-1940
ISSN
  • 0028-4793
  • 1533-4406
DOI
10.1056/nejmoa2106596
Cited by
171
References
2
Language
en
Licence
www.nejmgroup.org/legal/terms-of-use.htm (vor)
Funders
Fondazione Telethon

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