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Cure SMA Funds Over $6 Million in New Research in FY2020 Cure SMA Funds Over $6 Million in New Research in FY2020 Over our past fiscal year—from July 1, 2019, to June 30, 2020—Cure SMA has funded over $6 million in new and ongoing research funding. This funding will be used strategically to help accelerate research, and ensure we are developing treatments for all types, ages, and stages of SMA. The areas funded include: • Basic research, with a particular focus on funding approaches to develop combination therapies. • Drug discovery, to convert basic research ideas into practical new drug candidates. • Clinical and regulatory research, to facilitate clinical trials for all types and stages of SMA, and to guide safe and effective drug candidates toward regulatory approval. • 24th Annual SMA Virtual Research and Clinical Care Meeting, to bring together the leading SMA scientists, clinicians, and drug developers to develop SMA research strategies. If you missed any of our funding announcements, catch up on them in our news section at www.cureSMA.org/news. Each announcement includes a profile of the researcher who is receiving the grant and explains more about their projects and how they might benefit the SMA community. Basic Research $1.1 Million in New Funding in FY20: • Lyndsay Murray, PhD for Developing Strategies to Support Enlarged Motor Units Following SMN restoration in Mouse Models of SMA • Umrao Monani, PhD for Genetic Suppressors of the SMA Phenotype • Stephen Meriney, PhD for A Novel Treatment Targeting Persistent Neuromuscular Dysfunction in a Mild Mouse Model of SMA • Rashmi Kothary, PhD for Characterization of Canonical Disease Features in a Novel Mouse Model of SMA type Ill and IV • Timra Gilson, PhD for aCOP Complex Dependent Axonal Transport of RNA • Emily Welby, PhD for The Role of Astrocytes in SMA Motor Neuron Synapse Defects • Dmytro Morderer, PhD for Effect of SMN Deficiency on Ribonucleoprotein Assembly Fifteen Ongoing Projects: : • Alberto Kornblihtt, PhD for Epigenetics in SMN2 E7 Alternative Splicing II • Laxman Gangwani, PhD for Function of Senataxin as a Protective Modifier of Spinal Muscular Atrophy • Charlotte Sumner for Neurofilaments as Markers of Neurodegeneration in SMA • Sibylle Jablonka, PhD for Modulation of Calcium Channels in Mouse Models for Spinal Muscular Atrophy • Jocelyn Cote, PhD for Investigating the contributions of CARM1 and HuR misregulation to SMA skeletal muscle and NMJ defects • Krysta Engel, PhD for Transcriptome-wide interrogation of SMN-mediated RNA localization mechanisms in neurons • Umrao Monani, PhD for SMA Modulators as a Means to Revealing Disease Mechanisms • Charlotte Sumner, MD for Testing the potential of SMN-AS1 as a therapeutic target in SMA • Bakri Elsheikh, MD for Determine the motor unit response following SMN restoration in late-onset spinal muscular atrophy • Allison Ebert, PhD for Role of astrocyte produced miR-146a in SMA pathology • Brunhilde Wirth, PhD for Study of combinatorial therapy based on SPINRAZA together with a novel protective genetic modifier • Robert Kalb, MD for Effects of diminished SMN on segmental spinal cord innervation of motor neurons • Chad Heatwole, MD for Development of a Clinically Relevant Outcome Measure for Pediatric SMA Therapeutic Trials • Robin Parks, PhD for Serum-derived exosomes as a biomarker for Spinal Muscular Atrophy • Kathryn Swoboda, MD for Clinical and pathologic correlations in patients wither early infantile-onset SMA Cure SMA Funds Over $6 Million in New Research in FY2020 Translational Drug Discovery Research $600,000 in Ongoing Funding in FY20: • Umrao Monani, PhD for Restoring function at the NMJ: A novel means to treat SMA • Kevin Hodgetts, PhD for Pre-Clinical Development of LDN-5178 for the Treatment of SMA Clinical and Regulatory Research $1.8 Million in funding in FY20: As more SMA drug programs progress through clinical trials, there is an increasing need for us to address clinical and regulatory issues and bring the patient voice into the process. In 2016-2017, we launched the SMA Industry Collaboration (SMA-IC), a group of pharmaceutical and biotechnology companies in SMA drug development that work together on these projects to benefit our community. Funding for this area will be directed toward several critical projects: • Increasing clinical trial site capacity and optimizing readiness by providing tools that would enhance sites’ ability to conduct effective clinical trials in SMA. • Educating and engaging physicians, caregivers and patients to decrease time to SMA diagnosis. Cure SMA launched SMArt Moves [www.smartmoves.curesma.org], a disease awareness and educational campaign designed to empower parents and healthcare professionals to promptly recognize and diagnose the early signs of SMA. HCP resources include a diagnostic toolkit, instructional videos, and CMEs, among others. • Regulatory issues in SMA drug development including, o Assessing the feasibility of combination therapies in pre-clinical and clinical trials ▪ https://curesma.wpengine.com/wp-content/uploads/2020/03/03042020_Scientific-Considerations- for-Drug-Combinations_Final_Updated.pdf o Developing adult outcome measures for clinical trial use. o Obtaining a Critical Path Innovation Meeting with the FDA. • Conducting the Annual SMA Community Survey. Newborn Screening Grants $944,000 in ongoing funding in FY20: • Colorado Newborn Screening Program • Kansas Health and Environmental Laboratories, Newborn Screening Program • Washing Department of Health, Office of Newborn Screening • Arizona State Public Health Laboratory, Department of Newborn Screening • Iowa Newborn Screening Program • Michigan Department of Health and Human Services • Virginia Division of Consolidated Laboratory Services • Research Triangle Institute, a North Carolina Nonprofit Corporation Cure SMA Care Center Network and Clinical Data Registry $1.2 Million in SMA Care Center Network grants in FY20: In FY20, the Care Center Network expanded to 18 Care Centers integrated with the Cure SMA Clinical Data Registry collecting patient data to establish an evidence-based standard of care. Five new Care Centers were added this year. The current Care Centers include: Cure SMA Funds Over $6 Million in New Research in FY2020 • Advocate Children’s Hospital, Park Ridge, IL • Arkansas Children’s Hospital, Little Rock AR • Boston Children’s Hospital, Boston MA • Children’s of Alabama, Birmingham AL • Children’s National, Washington DC • Columbia University, New York NY • Connecticut Children’s Medical Center, Hartford CT • Duke University Medical Center, Durham NC • Gillette Children’s Specialty Healthcare, St. Paul MN • Phoenix Children’s Hospital, Phoenix AZ • Seattle Children’s Hospital, Seattle WA • Stanford University Medical Center, Pal Alto CA • Stanford Children’s Health/ Lucile Packard Children’s Hospital, Palo Alto CA • University of Missouri Health Care, Columbia MO • University of Rochester Medical Center, Rochester NY • University of Utah, Utah Program for Inherited Neuromuscular Disorders, Salt Lake City UT • University of Texas Southwestern/ Children's Health, Dallas TX • Monroe Carell Jr Children’s Hospital at Vanderbilt, Nashville TN • Yale Pediatric Neuromuscular Disorder Clinic, New Haven CT Cure SMA Researcher and Clinical Care Meeting The 2020 Cure SMA Research and Clinical Care Meeting was presented as a virtual meeting held June 10 through June 12, 2020 with 853 attendees joining 6 sessions. Each session averaged 314 attendees. Sessions included: Clinical Care CME which offered 3.5 credit hours of CME/CE, Basic and Clinical Research, and Clinical Drug Development. Sponsored symposiums included Spinal Muscular Atrophy Care Management in the COVID-19 Era, Nusinersen in Adults Living With SMA: Learning from Clinical Practice, and ZOLGENSMA® (onasemnogene abeparvovec-xioi) Clinical Trial Data Update. .
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