September 24, 2024 Treat NMD Introduction - 2024 September 25, 2024 Clinical Variant Resolution and VUS Resolution Program by Amanda Clause DMCRN Overview and Rationale GRASP-01-001 by Stephanie Hunn Pilot Project Updates GRASP-01-003 MR Status by Glenn Walter Updates to DMCRN & GRASP LGMD Consortium Agreements and PRC by Dr Johnson BMD Imaging Update by Kelly Rock GRASP LGMD Biorepository by Chris Weihl What's Next for DMCRN GRASP LGMD Overview What's Next for GRASP LGMD by Dr Johnson Overview of MDCRN Resources, Vision Moving Forward, and Collaborative Potential September 26, 2024 MDCRN Education Day Clinical Outcome Assessment and Endpoint Selection in Neuromuscular Diseases MDCRN Education Day Discussion MDCRN Education Day Evaluation of NSAA and NSAD for Use in Clinical Trials by Linda Lowes MDCRN Education Day Learning from Natural History by James Signorovitch MDCRN Education Day Understanding Global Genetic Diversity in FSHD by Enrico Bugiardini MDCRN Education Day LGMD Carrier Study by Alison Gaynor MDCRN Education Day What is working and what is not in FSHD can we RESOLVE by Chana Hewamadduma MDCRN Education Day Orthotics in CMT by Joshua Burns MDCRN Education Day Centro Clinico Nemo and The Cogstate MDCRN Education Day SMA Keynote Speaker Dr Richard Finkel MDCRN Education Day DM1 Biomarker Developement by Melissa Hale MDCRN Education Day The Use of Forced Vital Capacity in FSHD and LGMD by Elena Carraro MDCRN Education Day INC Biomarkers FHSD CTRN Comorbidites and Adverse Events by Iwona Skorupinska September 27, 2024 FSHD CTRN Discussion FSHD CTRN Electrical Impedance Myography by Karlein Mul FSHD CTRN Gross Motor Capaities and Strength on Enviromental Mobility by Jose Manue Sanz Mengibar INC Biorepository FSHD CTRN Motor Outcomes to Validate Evaluations in FSHD by Michaela Walker INC Fellowship Program by Mary Reilly Add description FSHD CTRN ReSolve Dyne Expansion update baseline and longitudinal assessments by Enrico Bugiardini FSHD CTRN MOVE PLUS by Doris Lueng and Seth Friedman INC Natural History Studies FSHD CTRN Preparing for Clinical Trials in Childhood onset FSHD November 8, 2023 GRASP Protocol Overviews and Updates Variant Resolution Updates Novel Genes an Nanopore Sequencing FKRP Data Presentations Remote Outcomes update MRI Pilot project updates CDM / ChDM outcomes Welcome and DMCRN Protocol Review Re-generating Normative data with QMT and HHD November 9, 2023 Composite Splicing Biomarker for DM1: Updates and Next Steps DUX4 minipigs for FSHD Insights into Spatiotemporal Pathogenesis from Knock-In Mouse Models of Myotonic Dystrophy Type 1 FSHD Composite Outcome Measure The Continued Promise of Genomic Technologies and Software in Neuromuscular Genetics Therapeutic Testing in Models of LGMD Functional Endpoints in Myotonic Dystrophy Type 1 The NSAD in LGMD MDCRN Educational Day Introduction FSHD A Micro-Dystrophin Origin Story Genetic Modifiers of Severity in Huntington Disease Use of Composite Outcome Measures in Clinical Trials Development of Outcome Measures in DMD Genetic Modifiers of Severity in Duchenne Muscular Dystrophy Under Represented Minority Considerations Developing Training Programs for the Next Generation Recruitment in Rare Diseases November 10, 2023 Opening Remarks Biorepository Updates Data Management and Quality Assurance ReSolve Dyne EU Baseline Data ReSolve Late Onset Cohort MOVE Methylation Data Revised RWS Analysis MOVE+ Preliminary MRI Analysis Pediatric Outcomes for FSHD Closing Remarks MOVE Baseline Data MOVE Remote Pilot & Actigraph Data
