Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy.

Autor: Lek A; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Wong B; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Keeler A; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Blackwood M; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Ma K; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Huang S; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Sylvia K; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Batista AR; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Artinian R; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Kokoski D; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Parajuli S; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Putra J; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Carreon CK; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Lidov H; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Woodman K; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Pajusalu S; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Spinazzola JM; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Gallagher T; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., LaRovere J; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Balderson D; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Black L; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Sutton K; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Horgan R; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Lek M; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.)., Flotte T; From the Department of Genetics, Yale School of Medicine, New Haven (A.L., K.M., S.H., K.W., S. Pajusalu, M.L.), and Cure Rare Disease, Woodbridge (R.H.) - both in Connecticut; the Departments of Pediatrics (B.W., A.K., R.A., D.K., T.F.) and Neurology (A.R.B.) and Horae Gene Therapy Center and the Li Weibo Institute for Rare Diseases Research (A.K., M.B., K. Sylvia, A.R.B., R.A., D.K., S. Parajuli, T.G., T.F.), University of Massachusetts Chan Medical School, Worcester, the Department of Pathology (J.P., C.K.C., H.L.), the Division of Genetics (J.M.S.), and Department of Cardiology (J.L.), Boston Children's Hospital, and Harvard Medical School (J.P., C.K.C., H.L.), Boston, and Charles River Laboratories, Wilmington (L.B., K. Sutton) - all in Massachusetts; the Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu (S. Pajusalu), and the Genetics and Personalized Medicine Clinic, Tartu University Hospital (S. Pajusalu) - both in Tartu, Estonia; and Regulatory Innovation, Raleigh, NC (D.B.).

Publikováno v: The New England journal of medicine [N Engl J Med] 2023 Sep 28; Vol. 389 (13), pp. 1203-1210.

Effect of serotonin modulation on dystrophin-deficient zebrafish.

Autor: Spinazzola JM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Lambert MR; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Gibbs DE; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Conner JR; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Krikorian GL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Pareek P; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Rago C; DMD Therapeutics Inc., Seattle, WA, USA., Kunkel LM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA kunkel@enders.tch.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Stem Cell Program, Boston Children's Hospital, Boston, MA, USA.; Harvard Stem Cell Institute, Cambridge, MA, USA.; The Manton Center for Orphan Disease Research at Boston Children's Hospital, Boston, MA, USA.

Publikováno v: Biology open [Biol Open] 2020 Aug 28; Vol. 9 (8). Date of Electronic Publication: 2020 Aug 28.

Isolation of Primary Human Skeletal Muscle Cells.

Autor: Spinazzola JM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Gussoni E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Stem Cell Program at Boston Children's Hospital, Boston, MA, USA.

Publikováno v: Bio-protocol [Bio Protoc] 2017 Nov 05; Vol. 7 (21).

Exosomal Small Talk Carries Strong Messages from Muscle Stem Cells.

Autor: Spinazzola JM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA., Gussoni E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; The Stem Cell Program at Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA. Electronic address: gussoni@enders.tch.harvard.edu.

Publikováno v: Cell stem cell [Cell Stem Cell] 2017 Jan 05; Vol. 20 (1), pp. 1-3.

Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A.

Autor: Alexander MS; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Genetics, Harvard Medical School, Boston, MA, USA.; The Stem Cell Program, Boston Children's Hospital, Boston, MA, USA., Gasperini MJ; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Tsai PT; The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Gibbs DE; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Spinazzola JM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Genetics, Harvard Medical School, Boston, MA, USA., Marshall JL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Feyder MJ; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Pletcher MT; Rare Disease Research Unit, Pfizer, Cambridge, MA, USA., Chekler EL; Rare Disease Research Unit, Pfizer, Cambridge, MA, USA., Morris CA; Rare Disease Research Unit, Pfizer, Cambridge, MA, USA., Sahin M; The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Harms JF; Neuroscience Research Unit, Pfizer Global Research and Development, Cambridge, MA, USA., Schmidt CJ; Neuroscience Research Unit, Pfizer Global Research and Development, Cambridge, MA, USA., Kleiman RJ; The F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Kunkel LM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Genetics, Harvard Medical School, Boston, MA, USA.; The Stem Cell Program, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Diseases, Boston, MA, USA.; Harvard Stem Cell Institute, Cambridge, MA, USA.

Publikováno v: Translational psychiatry [Transl Psychiatry] 2016 Sep 27; Vol. 6 (9), pp. e901. Date of Electronic Publication: 2016 Sep 27.