During our past fiscal year—from July 1, 2019 to June 30, 2020—Cure SMA funded more than $9 million in new and ongoing research and care initiatives. This money will be used strategically to help accelerate research and ensure we are developing treatments and protocols for all types, ages, and stages of spinal muscular atrophy (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.
- Expansion and integration of the Cure SMA Care Center Network and SMA Clinical Data Registry to establish an evidence-based standard of care.
- SMA Virtual Research & 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 Cure SMA’s News Page or in a recent issue of our Compass research newsletter. Each announcement includes a profile of the researcher who is receiving the grant, explains more about their projects, and the benefit of this research for the SMA community.
$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 3 and 4
- 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
$2.1 Million in Fifteen (15) 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 SMA
- Charlotte Sumner, MD for Neurofilaments as Markers of Neurodegeneration in SMA
- Sibylle Jablonka, PhD for Modulation of Calcium Channels in Mouse Models for SMA
- 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 SMA
- 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 SMA
- Kathryn Swoboda, MD for Clinical and Pathologic Correlations in Patients with Early Infantile-Onset SMA
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
$2 Million in Funding in FY20:
The Cure SMA Industry Collaboration was established in 2016 to leverage the experience, expertise, and resources of pharmaceutical, biotechnology companies, and other nonprofit organizations involved in the development of SMA therapeutics to more effectively address a range of scientific, clinical, and regulatory challenges. It is currently comprised of our partners at Novartis Gene Therapies, Genentech/Roche Pharmaceuticals, Scholar Rock, Cytokinetics, and Biogen. The following are key projects of the Cure SMA Industry Collaboration:
- 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, a disease awareness and educational campaign designed to empower parents and healthcare professionals to promptly recognize and diagnose the early signs of SMA. Healthcare provider resources include a diagnostic toolkit, instructional videos, and CMEs, among others.
- Regulatory issues in SMA drug development including:
- Assessing the feasibility of combination therapies in pre-clinical and clinical trials.
- Developing adult outcome measures for clinical trial use.
- Obtaining a Critical Path Innovation Meeting with the U.S. Food and Drug Administration (FDA).
- Conducting the Annual SMA Community Survey to track changes in patient data over time with the advent of new SMA therapies.
$1.2 Million in Funding in FY20:
In 2020, Cure SMA announced funding for the Pediatric Neuromuscular Clinical Research Network (PNCRN). Cure SMA will provide $1.2 million to this Network of highly skilled clinical trial investigators, clinical evaluators, clinical coordinators, statisticians, and data management personnel. In recent years, the PNCRN has been involved in the seminal clinical trials that have led to the FDA approvals of breakthrough SMA treatment options that have changed forever the natural course of the disease. The Network’s work continues to develop and refine more sensitive outcome measures, conduct ongoing clinical trials, accelerate newborn screening programs, and identify promising new treatment approaches. Cure SMA sees its support of the PNCRN leading to more ground-breaking collaboration in SMA research and clinical care, especially as we expand the number of effective treatments for SMA and pursue the ultimate vision of a cure.
Six (6) sites comprise the PNCRN for SMA, including: Boston Children’s Hospital, Boston, MA; Children’s Hospital of Philadelphia, Philadelphia, PA; Columbia University Irving Medical Center, New York, NY; St. Jude Children’s Research Hospital, Memphis, TN; Stanford University, Palo Alto, CA; and the data coordinating center at the University of Rochester, Rochester, NY. These clinical research and treatment sites have also now been integrated into the established Cure SMA Care Center Network, which will lead to real-world evidence that increases access to approved treatments for SMA and improves care for individuals with SMA and their families.
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 SMA Clinical Data Registry
$1.2 Million in Cure SMA Care Center Network Grants in FY20:
In FY20, the Cure SMA Care Center Network expanded to 19 Care Centers, and 18 centers were integrated with the SMA Clinical Data Registry collecting patient data to establish an evidence-based standard of care. Five (5) new Care Centers were added this year. The current Care Centers include:
- 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 Disorders Clinic, New Haven CT
*Pediatric Neuromuscular Clinical Research Network Sites
SMA Research & Clinical Care Meeting
The 2020 SMA Research & Clinical Care Meeting was presented as a virtual meeting held June 10 through June 12, 2020, with 853 attendees joining six (6) sessions. Each session averaged 314 attendees. Sessions included a Clinical Care CME that offered 3.5 credit hours of CME/CE, a Basic and Clinical Research session, and a Clinical Drug Development session. Sponsored symposia included topics including: 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.
Cure SMA Funding Leads to 22 New Research Publications
An important aspect of our funded research is to broadly disseminate data to the scientific and clinical communities. In 2020, Cure SMA-funded research led to the publishing of 22 journal articles. For a list of these publications, click here. Journal publishing is competitive, and only the best and most intriguing results are published. Congratulations to all these authors on their accomplishments and thank you for helping us move SMA research forward.