Schedule

Zollie Yavarow, Cure VCP Disease Director of Scientific Engagement and Collaborations

Speakers: Jonathan Glass, MD, Eileen Lynch, PhD, Veronica Ferrari, PhD; Chair: Dale Martin, PhD, Associate Professor, University of Waterloo; Speaker Bios This session explores proteinopathy mechanisms and therapeutic approaches, including TDP-43 targets, VCP's role in muscle TDP-43 pathology, and AI-driven models of protein misfolding diseases. Presentation Titles: Jonathan Glass, MD: Therapeutic Targets for TDP43 Proteinopathies Eileen Lynch, PhD: The role of VCP in skeletal muscle TDP-43 pathology Veronica Ferrari, PhD: VCP modulation enhances DPRs clearance and restores lysosomal homeostasis in C9ORF72-Associated ALS/FTD

Speakers: Katherine Xia, Yuna Ayala, PhD, Steve Finkbeiner, MD, PhD, and Paymaan Jafar-nejad, MD; Chair: Chris Weihl, MD, PhD, Professor of Neurology, Washington University St. Louis; Speaker Bios From VCP activators and ASOs to targeted TDP-43 aggregation inhibitors, this session highlights promising therapeutic strategies aimed at treating VCP-related proteinopathies while preserving normal protein function. Presentation Titles: Katherine Xia: Substrate Structure and VCP Activity Relationships Yuna Ayala, PhD: Inhibiting TDP-43 aggregation while preserving physiological function Steve Finkbeiner, MD, PhD: Finding causes and treatments for protein misfolding diseases with stem cells, robotics and AI Paymaan Jafar-nejad, MD: Next-generation delivery of nucleic acid therapies for neuromuscular disorders

Lunch will be provided with your admission. Offers opportunities to engage with patients and those affected by VCP disease.

Speakers: Virginia Kimonis, MD, Linsday Alfano, PT, DPT, PCS, Devesh Pant, PhD; Chair: Tahseen Mozaffar, MD - UC Irvine Speaker Bios Understanding how scientific discoveries become treatments that change lives. This session explores the critical translation phase - where laboratory findings, natural history data, and patient experiences converge to inform therapeutic development. Presentation titles: Virginia Kimonis, MD: Antisense oligonucleotides targeting VCP ameliorate muscle pathology in a mouse model and pave the path to an IND and first‑in‑human clinical protocol Lindsay Alfano, PT, DPT, PCS: Natural history studies: Elevating Care and Enabling Trials Devesh Pant, PhD: Targeted proteomic profiling reveals protein dysregulation in VCP-linked MSP

The path to diagnosis can be long and frustrating — but it's getting better. This session addresses the full diagnostic landscape, from recognizing early symptoms to navigating genetic testing, and explores how proper coding and emerging technologies are changing the game. Attendees will hear directly from a genetic counseling expert about the latest tools and resources available, including a specialized program developed in partnership with Cure VCP Disease, and a facilitated panel discussion will explore the unique considerations young people face when approaching genetic testing and what a diagnosis means for their future. Session Chair: Brandon Feldt Speakers: Whitney L. Ducaine, MGC, CGC, CN-BM — Clinical Lead, Clinical Services, InformedDNA Young Person's Genetic Counseling Panel, facilitated by Ashley Thompson Speaker Bios

This is where we move from understanding what we know to defining what we need to discover next - together. After a day of presentations covering current research, therapeutic development, and diagnostic challenges, this working session brings clinicians, researchers, and patients into collaborative discussion about priorities and next steps. Facilitated by: Gerald Pfeffer, MD, PhD - University of Calgary