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FightSMA and Spinal Muscular Atrophy Research

(October 2015) -- The FightSMA story began in November 1991 in Richmond, Virginia, with a press conference run by kindergarteners and a breakneck, 30-day campaign to raise $100,000 to buy SMA gene-hunting equipment for a lab at Columbia University in New York.

The kids—and the city—beat their goal on two counts, raising $125,000…in just 25 days.

A DNA Sequencer was rolled in to Dr. Conrad Gilliam’s lab at the campaign’s end, in time for a sixth birthday party for Andrew Slay, who had been diagnosed with SMA. The cake, candles, and sequencer were covered by the Associated Press and CNBC; it was estimated that the “big green gene machine” sped up the hunt for the SMA gene twenty-fold.

That 1991 episode was emblematic of the approach that FightSMA would take over the next 25 years. FightSMA’s science advisers would always ask:

"What’s the most important thing we can do NOW to accelerate SMA research?"

That is still true today, as FightSMA Science Director Chris Lorson explained in early 2015: “The door is now open to a number of exciting therapeutic strategies with the entry of the first round of SMA-specific compounds into clinical trials. However, the development of additional high-impact targets will be essential as clinical trials provide feedback on what is just the first wave of SMA-specific therapeutics.”

“As a beginning assistant professor of genetics at Columbia University, I was mindful not to come across as too intense.  That was before I met Joe Slay. Over a frantic, 30-day period in the fall of 1991, Joe and the wonderful citizens of Richmond raised over $100,000 to purchase an automated DNA sequencer for my lab. An unheard of acquisition for a starting professor, my group ran that machine night and day until we excavated more than 5 million base pairs of DNA that included the gene responsible for SMA. The citizens of Richmond help change the course of history that fall.”
T. Conrad Gilliam, PhD
Dean for Research 
Biological Sciences Division 
University of Chicago
October 2015


FightSMA’s 25 Years of SMA Research Support: Then and Now

FightSMA has funded spinal muscular atrophy research at 45 universities and research institutions in the United States, Canada, the United Kingdom, France, and Italy. Guided by its Scientific Advisory Committee Co-Chairs, Dr. Alex MacKenzie of the Children’s Hospital of Eastern Ontario Research Institute and Dr. Chris Lorson, of the University of Missouri, FightSMA has sought out research projects that were strategically critical.

Highlights of FightSMA-funded research:

-The purchase in 1991 of a DNA Sequencer for Dr. Conrad Gilliam, then of Columbia University, accelerated “mapping” of the gene responsible for SMA by twenty-fold.

-In 1997, FightSMA was the largest funder of the first SMA clinical trial, a pioneering nine-city, placebo-controlled trial of the drug Gabapentin to test its effect on muscle strength in adult SMA patients.

-In 2001, FightSMA funded the development of an SMN2 assay in the laboratory of Dr. Elliot Androphy at the Tufts University School of Medicine. This enabled high-throughput screening of more than 1,000,000 compounds to find those that could turn up the existing SMN2 gene’s production of SMN protein. The basic design of this assay has since been used and proven effective by numerous academic and pharmaceutical investigators.

-Stimulated by a series of annual visits to the American Society of Gene Therapy conference in the early 2000s, FightSMA funded the first-ever in vivo gene therapy for an SMA mouse model at Oxford Biomedica (under the direction of Drs. Mimoun Azzouz and Nicholas Mazarakis in 2004). This work demonstrated retrograde transport from muscle to nerves and provided an important proof-of-concept for gene replacement in SMA.

-FightSMA funded a powerful means for measuring a compound’s ability to increase protein in hundreds of thousands of wells, a tool called an ELISA (Enzyme-Linked Immunosorbent Specific Assay), developed by Dr. Glenn Morris of Northeast Wales Institute. This was made freely available on an open-access basis to SMA labs around the world.

-FightSMA provided support for a single-center clinical trial conducted in 2007-2008 by Dr. Kathryn Swoboda at University of Utah to evaluate effects of sodium phenylbutyrate in pre-symptomatic infants with Type I and Type II SMA.

-In 2006, Dr. Chris Lorson’s lab at the University of Missouri was funded to examine the functional significance of the SMN C-terminus (the “end” of the protein). This led to the discovery that drugs such as aminoglycosides improved protein stability by altering the length of the truncated SMN2-derived SMN protein.

-FightSMA has provided funding for the development of a large animal SMA model  at the University of Missouri under the direction of Dr. Monique Lorson.  Currently (in 2015), there is no genetically faithful swine model for SMA; such an achievement will be central for the analysis of SMN2-targeting therapeutics such as ASOs and a variety of small molecules.

-In another FightSMA initiative, Dr. Alex Mackenzie at CHEO Research Institute in Ottawa, Canada was funded as part of a collaboration to “data mine” genes that were co-regulated with SMN. With assistance from Johnson & Johnson and the Broad Institute, the P38 kinase signaling pathway was identified as a regulator of SMN levels. A number of existing compounds target this important, well-studied cellular pathway. Then in 2015 based on this work, in collaboration with the Gwendolyn Strong Foundation, FightSMA supported the initiation of a clinical trial testing the nonsteroidal anti-inflammatory drug (NSAID) Celecoxib as an SMN2-inducer which increases SMN protein levels.

-With its collaborating partner, the Gwendolyn Strong Foundation, FightSMA  contributed funding to SMA gene therapy research at Nationwide Children’s Hospital in Columbus, OH, in the lab of Dr. Brian Kaspar.  Dr. Kaspar and colleagues have subsequently formed a company (AveXis) that has now performed the “first-in-human” delivery of SMN AAV gene therapy.

-In early 2015, FightSMA announced with the Gwendolyn Strong Foundation, a total of $500,000 in “Emerging Investigator” grants to some of the most exciting of the next generation of SMA researchers, including:

  • Ottawa Hospital Research Institute: Dr. Lyndsay Murray
  • Johns Hopkins School of Medicine: Dr. Constantin d’Ydewalle
  • Cincinnati Children’s Hospital: Dr. Steven Crone
  • University of Missouri: Dr. Hansjorg Rindt
  • Ohio State University: Dr. Kevin Foust
  • Uniformed Services Univ. of the Health Sciences: Dr. Barrington G. Burnett
  • Indiana University School of Medicine: Dr. Sara Custer
  • Children’s Hospital of Eastern Ontario: Dr. Faraz Farooq
  • University of Oxford: Dr. Melissa Bowerman
  • University of Missour: Dr. Erkan Osman
  • Indiana University School of Medicine: Dr. Anne Reitz
  • Columbia University: Dr. Eileen Workman

-Concerned with the day-to-day, real-world health issues of SMA patients, FightSMA also recognized early on the role of the autonomic system in SMA and the critical centrality of respiratory support.  FightSMA has promoted professional discussion of rational dietary approaches to SMA and sponsored online webinars, bringing experts in respiratory, cardiac, exercise, orthopedic, nutrition, and social issues to SMA families around the world.

-For more than two decades, FightSMA has convened leading SMA researchers at the annual FightSMA research conference in Washington, D.C., an event considered by researchers as one of the most valuable exchanges of new thinking about SMA that they experience.

-Over the past 25 years, FightSMA has worked with such individuals and entities as NFL Hall of Famer Howie Long, the NBC Today Show, Parents Magazine, USA Today, the Associated Press, NBC’s Lester Holt, Rosie O’Donnell, RealClearPolitics, CNN, the Graham Rahal (RLL) Honda-IndyCar racing team, Steak n Shake restaurants, Target Stores, the Department of Health and Human Services (HHS), the National Institutes of Health (NIH), the United States House of Representatives and Senate, and the White House.  The goal always has been to bring higher levels of visibility and support to fight SMA.


“In the current NIH funding climate, new investigators, like me, are finding it extremely difficult to maintain our work on SMA. FightSMA’s annual research meeting and Emerging Investigator Award Program support novel research concepts and provide the forum to rigorously challenge these new concepts.”
Barrington G. Burnett, PhD Uniformed Services University of the Health Sciences October 2015


The FightSMA research story continues. Heading into 2016—its 25th year—FightSMA plans a robust series of initiatives to realize three strategic goals:  

  • To expand financial support for SMA research.
  • To create a higher level of awareness for spinal muscular atrophy
  • To position FightSMA for the future, with a new generation of leaders, some of whom were kindergarteners when FightSMA began in 1991.

(For a full listing of institutions receiving research grants from FightSMA, click here.