I.07 Clinical trial readiness across the lifespan in Charcot-Marie-Tooth disease

Abstract

Charcot Marie Tooth disease (CMT) is a family of inherited neuropathies with over 100 known genetic causes. Recent developments have increased our understanding surrounding the genetics and pathophysiology of CMT, which has led to the development of potential therapeutic agents and a need to be ready for clinical trials. The Inherited Neuropathies Consortium (INC) was established in part to conduct natural history studies in large cohorts of individuals living with CMT. These studies are a critical component of clinical trial readiness as they are helping to characterize the different phenotypes and disease progression in individuals with CMT. Reliable, valid, and sensitive clinical outcome assessments (COAs) are essential for clinical trials. COAs have been developed and validated for infants and children with current efforts being directed towards validation of the CMT-Functional Outcome Measure (CMT-FOM), for use in adults. Patient reported outcomes, including measures of quality of life, as well as biomarkers are also important for clinical trials. Building on lessons learned from clinical trials across neuromuscular conditions, the progress made towards clinical trial readiness will be reviewed with considerations for future studies involving individuals with CMT.