During our last fiscal year—July 1, 2018, to June 30, 2019—Cure SMA funded more than $7 million in new research and ongoing research. The resources will 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 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.
  • Patient Reported Data Project and the Annual Community Survey, to both better understand the natural history of SMA through the patient view, and to document the changes in SMA as new treatments become available.
  • Newborn screening grants, to help states expediate the adoption and implementation of SMA to their statewide NBS panels
  • 23rd Annual SMA Researcher Meeting and 2nd Annual 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, while also explaining more about their projects and how they might benefit the SMA community.

Basic Research

More than $1.15 Million in New Funding in FY19:

  • 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, MD 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
  • Veronica Pessino, PhD for Identifying SMN and microRNA-218 Impacts on the Local Transcriptome at Neuromuscular Junctions
  • Krysta Engel, PhD for Transcriptome-Wide Interrogation of SMN-mediated RNA Localization Mechanisms in Neurons

Nine (9) Ongoing Projects for $1.2 Million:

  • 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 FY19:

  • 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

Since the inception of the SMA Industry Collaboration in 2016, we have seen tremendous growth in the breadth of projects with our seven pharmaceutical and biotechnology partners. In 2019, efforts were directed toward several critical projects. Cure SMA granted $1.78 million in clinical and regulatory research in FY19, including:

  • Clinical Trial Readiness: To increase clinical trial site capacity, Cure SMA launched the Clinical Trial Readiness Program, which included a series of educational resources (e.g., best practice toolkits, in-person workshops and webinars, online resource hub, etc.) that help to enhance a site’s ability to conduct effective, patient-centric clinical trials in SMA. We expect 15 new sites to have been completed the program by the end of 2019.
  • SMArt Moves Education Campaign: In late 2018, Cure SMA launched SMArt Moves, a disease awareness campaign with microsite designed to empower new parents and healthcare professionals to promptly recognize and diagnose the early signs of SMA. To specifically promote the available healthcare professional resources (e.g., diagnostic toolkit, instructional videos, CMEs), we partnered with key stakeholders in the rare disease space and academia—such as NORD, CNS, AAN, Global Genes, PPMD, Genetic Alliance, and AMDA—to engage more than 5,400 healthcare providers this year.
  • Patient Reported Data Project and Annual Community Survey: This project aims to both better understand the natural history of SMA through the patient view, and to document the changes in SMA as new treatments become available. This data is collected when new patients first contact us and using the annual community survey, in order to better understand real-world experiences of people living with SMA. This data informs healthcare providers, regulators, and payers on SMA and its changing landscape.
  • Enhance and Advance Drug Development: By bringing the voice of the patient to regulators, we can improve their understanding of the shifting burden of SMA and what remains clinically meaningful for affected individuals and caregivers. Several projects in 2019 that supported this effort include the development of a resource booklet on the complex topic of combining treatments, the publication of the findings of the “Benefit-Risk Community Survey in SMA” in Clinical Therapeutics, and a survey on clinical meaningfulness in teens and young adults.

Cure SMA Care Center Network and SMA Clinical Data Registry

In FY19, we provided $1.4 million in support of the Cure SMA Care Center Network and SMA Clinical Data Registry development. The goal of the Cure SMA Care Center Network is to develop an evidence-based standard of care that will improve the lives of all those affected by spinal muscular atrophy. The Network will also help expand access to approved SMA treatments, increase the number of sites for SMA clinical trials, and help accelerate and enhance insurance coverage and reimbursement.

Additionally, the SMA Clinical Data Registry was developed to enable data comparing each Center to other deidentified care centers. Data analysis for care outcomes, areas of care variance across Centers, and opportunities for improvement of care are also the intent.

Newborn Screening Grants

We provided $1 million in FY19 for grants to 12 states in support of newborn screening. This included staffing, equipment, and assay validation needs in order to implement newborn screening for SMA.

SMA Researcher and Clinical Care Meeting

To bring together more than 500 SMA researchers and 150 clinicians from around the world, we provided $500,000 in conference and travel expenses for attendees of the 2019 Researcher and Clinical Care Meetings in California.

Cure SMA Funding Leads to 17 New Research Publications in 2019

An important goal of our research funding strategy is to share scientific findings with the broader scientific community. Scientists who receive Cure SMA funding often publish their research in peer-reviewed journals. This means that other scientists can learn from their results, paying dividends across the wider landscape of SMA research and allowing us to multiply the impact of our funding.

In 2019, Cure SMA-funded research led to the publishing of 17 journal articles. For a list of these publication please click here. Journal publishing is competitive, and only the best and most intriguing results are published. Congratulations to all these authors on their accomplishment, and thank you for helping us move SMA research forward.