Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.

Journal

NEJM evidence
ISSN: 2766-5526
Titre abrégé: NEJM Evid
Pays: United States
ID NLM: 9918317485806676

Informations de publication

Date de publication:
Jul 2022
Historique:
medline: 1 7 2022
pubmed: 1 7 2022
entrez: 6 2 2024
Statut: ppublish

Résumé

Gene Therapy for Mucopolysaccharidosis Type VIIn this open-label gene therapy study, infusions for MPS type VI occurred without severe adverse events. In the high-dose cohort, serum active arylsulfatase B reached 30% to 100% of normal. A modest urinary GAG increase did not require reintroduction of enzyme replacement therapy. Clinical deterioration was not noted for up to 2 years after therapy.

Identifiants

DOI: 10.1056/EVIDoa2200052 PMID: 38319253
pubmed: 38319253
doi: 10.1056/EVIDoa2200052
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

EVIDoa2200052

Auteurs

Nicola Brunetti-Pierri (N)

Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
Department of Translational Medicine, "Federico II" University, Naples, Italy.

Rita Ferla (R)

Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
Department of Translational Medicine, "Federico II" University, Naples, Italy.

Virginia Maria Ginocchio (VM)

Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
Department of Translational Medicine, "Federico II" University, Naples, Italy.

Alessandro Rossi (A)

Department of Translational Medicine, "Federico II" University, Naples, Italy.

Simona Fecarotta (S)

Dipartimento ad Attivitá Integrata Materno Infantile, "Federico II" University, Naples, Italy.

Roberta Romano (R)

Department of Translational Medicine, "Federico II" University, Naples, Italy.

Giancarlo Parenti (G)

Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
Department of Translational Medicine, "Federico II" University, Naples, Italy.

Yilmaz Yildiz (Y)

Division of Pediatric Metabolism, Ihsan Dogramaci Children's Hospital, Hacettepe University, Ankara, Turkey.

Stefano Zancan (S)

Fondazione Telethon ETS, Rome, Italy.

Valentina Pecorella (V)

Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.

Margherita Dell'Anno (M)

Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
Department of Translational Medicine, "Federico II" University, Naples, Italy.

Mafalda Graziano (M)

Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.

Marialuisa Alliegro (M)

Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.

Generoso Andria (G)

Department of Translational Medicine, "Federico II" University, Naples, Italy.

Francesca Santamaria (F)

Department of Translational Medicine, "Federico II" University, Naples, Italy.

Raffaella Brunetti-Pierri (R)

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania "Luigi Vanvitelli," Naples, Italy.

Francesca Simonelli (F)

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania "Luigi Vanvitelli," Naples, Italy.

Vincenzo Nigro (V)

Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
Department of Precision Medicine, Università degli Studi della Campania "Luigi Vanvitelli," Naples, Italy.

Maria Vargas (M)

Department of Neurosciences, Reproductive and Odontostomatological Sciences, "Federico II" University, Naples, Italy.

Giuseppe Servillo (G)

Department of Neurosciences, Reproductive and Odontostomatological Sciences, "Federico II" University, Naples, Italy.

Francesco Borgia (F)

Department of Advanced Biomedical Sciences, Divisions of Cardiology and Cardiothoracic Surgery, "Federico II" University, Naples, Italy.

Ernesto Soscia (E)

Institute of Biostructure and Bioimaging, National Research Council, Napoli, Italy.

Marco Gargaro (M)

Department of Medicine and Surgery, University of Perugia, Perugia, Italy.

Silvia Funghini (S)

Newborn Screening, Clinical Chemistry and Pharmacology Laboratory, Meyer Children's University Hospital, Florence, Italy.

Novella Tedesco (N)

Genethon, Evry, France.
Integrare Research Unit UMR_S951 of Université Paris-Saclay, University Evry, INSERM, Evry, France.

Pierre Romain Le Brun (PR)

Genethon, Evry, France.
Integrare Research Unit UMR_S951 of Université Paris-Saclay, University Evry, INSERM, Evry, France.

Charles A Rupar (CA)

London Health Science Centre, Western University, London, Ontario, Canada.

Chitra Prasad (C)

London Health Science Centre, Western University, London, Ontario, Canada.

Mar O'Callaghan (M)

Servicio de Neurología, Unidad de Enfermedades Metabólicas, Clínica Rett, Hospital Sant Joan de Déu, Barcelona, Spain.

John J Mitchell (JJ)

Division of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.
Division of Pediatric Endocrinology, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.

Olivier Danos (O)

REGENXBIO Inc, Rockville, MD.

Jean-Brice Marteau (JB)

Genosafe SAS, Evry, France.

Stefania Galimberti (S)

Bicocca Bioinformatics Biostatistics and Bioimaging B4 Center, School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.

Maria Grazia Valsecchi (MG)

Bicocca Bioinformatics Biostatistics and Bioimaging B4 Center, School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.

Philippe Veron (P)

Genethon, Evry, France.
Integrare Research Unit UMR_S951 of Université Paris-Saclay, University Evry, INSERM, Evry, France.

Federico Mingozzi (F)

Genethon, Evry, France.

Francesca Fallarino (F)

Department of Medicine and Surgery, University of Perugia, Perugia, Italy.

Giancarlo la Marca (G)

Newborn Screening, Clinical Chemistry and Pharmacology Laboratory, Meyer Children's University Hospital, Florence, Italy.
Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.

H Serap Sivri (HS)

Division of Pediatric Metabolism, Ihsan Dogramaci Children's Hospital, Hacettepe University, Ankara, Turkey.

Alberto Auricchio (A)

Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
Department of Advanced Biomedical Sciences, "Federico II" University, Naples, Italy.

Classifications MeSH