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Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.
Reilly, Mary M; Herrmann, David N; Pareyson, Davide; Scherer, Steven S; Finkel, Richard S; Züchner, Stephan; Burns, Joshua; Shy, Michael E.
Afiliação
  • Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY.
  • Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Scherer SS; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
  • Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN.
  • Züchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.
  • Burns J; Sydney School of Health Sciences, University of Sydney, Sydney, Australia.
  • Shy ME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa, IA.
Ann Neurol ; 93(5): 906-910, 2023 05.
Article em En | MEDLINE | ID: mdl-36891823
ABSTRACT
Heritable neurological disorders provide insights into disease mechanisms that permit development of novel therapeutic approaches including antisense oligonucleotides, RNA interference, and gene replacement. Many neurogenetic diseases are rare and slowly progressive making it challenging to measure disease progression within short time frames. We share our experience developing clinical outcome assessments and disease biomarkers in the inherited peripheral neuropathies. We posit that carefully developed biomarkers from imaging, plasma, or skin can predict meaningful progression in functional and patient reported outcome assessments such that clinical trials of less than 2 years will be feasible for these rare and ultra-rare disorders. ANN NEUROL 2023;93906-910.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Periférico / Doenças do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Periférico / Doenças do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article