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Families of Spinal Muscular Atrophy Advocacy Update 2013

January 15, 2013.

Over the past half-decade, Families of SMA has led the way in the conceptualization and introduction of the SMA Treatment Acceleration Act, securing language in Congress’s annual appropriations bills urging greater federal support for SMA biomedical research at the National Institutes of Health (NIH) (the federal government’s medical research agency), and engaging policymakers on a wide array of matters relative to the therapy development and approval processes.  Due to these efforts the federal government’s investment in SMA research and the SMA drug pipeline have never been more robust than at present.

The increased NIH support for SMA research has accelerated the SMA drug pipeline.  Families of SMA has worked closely with lawmakers and the NIH over many years to develop what has become a highly effective and sophisticated collaborative research enterprise that supports several basic, translational, and clinical therapy development research programs for SMA.  Under this three-stage construct, Families of SMA and our partners in government and industry work cooperatively to leverage resources and spur discoveries. 

• In stage one, Families of SMA provides the initial seed funding for promising drug discovery programs.  This work is funded by the efforts of our families and supporters and is critical to jumpstarting the therapy development process. 
• In stage two, the NIH subsequently awards grants to meritorious projects to support further development of the therapies and prepare them for introduction into the clinic.  Research at this stage becomes increasingly expensive and requires the government’s intervention. 
• The most promising therapies advance to stage three, in which biotechnology and pharmaceutical partners support and conduct the highly complex and expensive Phase II and III clinical trials that are necessary to secure drug approval from the U.S. Food and Drug Administration (FDA).  Only industry possesses the expertise and resources to support research at this stage of the process. 

There are multiple examples of the success of this paradigm:

Quinazoline Program: Families of SMA began funding a project to turn up the SMN promoter to produce more SMN protein in 2000 using the compound Quinazoline.  The project was licensed to Repligen Corporation in 2009 and received FDA Orphan Drug status that same year.  The FDA approved a Phase I clinical trial in May 2011.  This program was recently licensed to Pfizer for development.

Tetracycline Program: Families of SMA began funding a project to correct the defective splicing in SMN2 using the compound Tetracycline in 2006 in collaboration with Paratek Pharmaceuticals.  The NIH awarded Paratek a multi-million dollar grant through its Cooperative Program in Translational Research (CPTR) in 2009 to further the research.  The goal of this program is to submit an investigational new drug (IND) application to the FDA.

Antisense Oligonucleotides Program: This therapeutic approach uses small pieces of genetic material (oligonucleotides) to improve the functioning of the SMN2 gene.  Families of SMA funded the early proof-of-concept research for this therapeutic strategy.  ISIS Pharmaceuticals received FDA approval permitting it to initiate a Phase I clinical trial in 2011 and recently began to collaborate on the clinical development of the project with Biogen Idec.

Gene Therapy Program: Gene therapy aims to replace the defective SMN1 gene with a healthy version.  Families of SMA awarded several grants to support ongoing research at The Ohio State University.  The result of an application submitted to the NINDS requesting additional support for this effort is currently pending.

The NeuroNEXT Network: In 2011, the NIH created “NeuroNEXT: Network for Excellence in Neuroscience Clinical Trials,” a network of 25 sites across the country providing clinical trials infrastructure for neurological disorders.  NeuroNEXT is very similar to the clinical network envisioned in the SMA Treatment Acceleration Act.  The first research project to utilize NeuroNEXT is a SMA biomarker study at the Ohio State University, which aims to identify an efficient and precise means of measuring the impact of drug treatments.

Newborn Screening: In 2010, the NIH awarded funding to support a multiyear clinical investigation of newborn screening in SMA.  The grant is funding a study to test the efficacy of screening every newborn in Utah for SMA and enrolling identified infants into a medical home to coordinate and provide proactive care interventions and protocols.  This effort will assess the impact of providing pre-symptomatic care on patient outcomes.

The SMA Project: In 2003, NINDS selected SMA from among the 600 neurological disorders under its purview to initiate a government-directed drug development program.  The SMA Project tested the ability of Indoprofen analogs to increase SMN protein.  Pre-clinical work has been completed and licensing opportunities are being pursued at the present time.

Pending Applications: Several highly competitive SMA-related research projects are awaiting the results of their applications to the NIH, including various basic research studies and initiatives related to drug development and gene therapy. 

Looking Ahead
Families of SMA is proud of the success of the legislative plan put into effect in 2007, but more work remains to be done.  We will continue to engage lawmakers and policymakers throughout the federal government to spur continued development and approval of one or more therapies.  We look forward to continuing to work together in these efforts – words cannot express our gratitude for your ongoing support and efforts.


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