Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints
Open Access
- 21 March 2023
- journal article
- review article
- Published by Wiley in Annals of Neurology
- Vol. 93 (5), 906-910
- https://doi.org/10.1002/ana.26633
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 2023Keywords
Funding Information
- Muscular Dystrophy Association
- National Institute of Neurological Disorders and Stroke (R01NS105755, U01NS109403, U54NS065712)
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