Originally published on October 24, 2013.

Cure SMA invests in four research areas:  Basic Research, Drug Discovery, Clinical Research, and Care Research. Cure SMA has invested over $55 Million in research since 1984, with $35 Million in the past decade alone. In 2013, we provided funding to 25 different research projects across these four areas.
 
We believe that investment in all of these research areas is essential in finding effective SMA treatments and eventually a cure for the disease. Basic Research into SMA biology tells us what causes the disease. Understanding what causes SMA reveals new and better ways of making new drugs. Then Drug Discovery programs convert Basic Research findings into SMA drug candidates.  Clinical Research gives the infrastructure needed to test drug candidates. Care Research identifies the best care practices to improve the quality of life of SMA patients.

2013 Funding Summary:

Basic Research to Understand SMA:

In 2013 we provided funding to 11 different basic research projects on SMA. In early 2014 we anticipate funding $700,000 in basic research towards another 6 or 7 projects. With these new grants, we will have invested almost $10 Million to Basic Research since 2004. The Basic Research projects with Cure SMA funding in 2013 include:

1.    Motor axon development in SMA. Charlotte Sumner, MD, Johns Hopkins University
2.    Regulation of HDAC5 phosphorylation by Cdk5 in SMA. Yong-Chao Ma, PhD, Northwestern University
3.    The role of glia cells in SMA. Chien-Ping Ko, PhD, University of Southern California
4.    Arginine Methylation as a Regulator of SMN in Motoneurons. Jocelyn Côté, PhD, University of Ottawa
5.    The role of vehicle coat protein alpha-COP in models of SMA. Sara Custer, PhD, Indiana University
6.    The when and where requirements of SMN in mild SMA. Christine DiDonato, PhD, Northwestern University
7.    Stem Cell Models of SMA. Christopher Henderson, Ph.D., Columbia University
8.    Validation of Spinal Muscular Atrophy Biomarkers in VALIANT Subjects. Stephen Kolb, MD, PhD, OSU
9.    Selective Vulnerability of Distinct Motor Neuron Pools in SMA.  Rashmi Kothary, PhD, University of Ottawa.
10.    Novel genetic determinants of severity in SMA model mice. Umrao Monani, PhD, Columbia University
11.    SMN in mRNA transport and local protein synthesis in motor axons.  Wilfried Rossoll, PhD, Emory University.

Drug Discovery to Identify New Therapies: 

There are now 15 drugs in the SMA drug pipeline with 3 in clinical trials and several more anticipated to start in 2014. Cure SMA has been involved in two-thirds of all SMA drug programs and has invested over $19 Million since 2000. Cure SMA believes it is critical to build the SMA drug pipeline using multiple approaches, so there are back-ups if the current lead programs fail, given just 10% of drugs in clinical trials obtain FDA approval.  Cure SMA is currently funding 6 Drug Discovery programs on: 

1.    Gene Therapy to Dr. Brian Kaspar at Nationwide Children’s Hospital
2.    The Isis Antisense Drug to Dr. Adrian Krainer at Cold Spring Harbor Laboratory
3.    New Antisense Drugs to Dr. Arthur Burghes at OSU and Dr. Chris Lorson at the University of Missouri
4.    Drug Screens in Motor Neurons to Dr. Lee Rubin at Harvard
5.    Muscle Enhancing Drugs to Dr. Jeff Jasper at Cytokinetics
6.    Novel Small Molecules at to Dr. Peter G. Schultz at CALIBR

Care Research to Improve Quality of Life:

In 2013 Cure SMA initiated a new program in Clinical Care Research. The results of funded projects will build an evidence base for the clinical management of SMA, improving the quality of life for patients.  We funded four Care Research projects in June of 2013 to:

1.    Oscar Mayer, MD at The Children’s Hospital of Philadelphia
2.    Timothy Lotze, MD at Texas Children’s Hospital
3.    Matthew Halanski, MD at University of Wisconsin
4.    Kathryn Swoboda, MD at University of Utah

Clinical Research to Effectively Test Drugs:

In 2001 Cure SMA started the Project Cure SMA Trial Network.  The network developed clinical infrastructure and protocols to test candidate drugs for SMA.  Overall they conducted 5 clinical trials. Cure SMA continues to fund collaborative projects to build clinical trial infrastructure and has invested $7 million in this area. Our 2013 Clinical Research projects include:

1.    The SMA Patient Registry to aid in clinical trial recruitment
2.    Stephen J. Kolb MD at OSU for patient recruitment for the NIH NeuroNext Biomarker Trial
3.    Parent Project MD for a collaborative study exploring expectations in clinical trials
4.    Collaborative SMA Community Project to optimize clinical trial outcome scales