The Society for Neuroscience (SfN) is the world’s largest organization of scientists and physicians devoted to advancing understanding of the brain and nervous system. SfN’s 40th annual meeting, Neuroscience 2010, will be held November 13-17 in San Diego, California. As in past years, the exhibit hall will have an “SMA Organizations” booth devoted to raising awareness of spinal muscular atrophy (SMA) among the researchers and scientists attending the meeting.

In addition, Families of SMA, FightSMA, MDA, and SMA Foundation will be sponsoring a satellite event. Entitled “Nucleic Acids to the Rescue: Gene and Antisense Oligonucleotide Therapies for SMA,” the symposia meeting will be held Monday, November 15th at the Manchester Grand Hyatt, just a block from the SfN meeting site. (This event is not sponsored by the Society for Neuroscience.)

Click on the image below to view the save the date.

Work in the Lorson lab at the University of Missouri, the DiDonato lab at Northwestern University, and the Kaspar lab at Nationwide Children’s Hospital have recently shown functional and developmental cardiac defects in two severe models of spinal muscular atrophy (SMA). The studies were conducted with mouse models, not SMA patients, and all three were recently published in the journal Human Molecular Genetics.

According to Dr. Chris Lorson, FightSMA’s Science Director and also an author of one of the studies, “collectively these results highlight the importance of additional tissues in SMA that may contribute to the overall pathology in SMA - most likely in more severe cases. This is especially important when developing and testing potential therapeutics in SMA models and as novel compounds progress towards the clinic.”

Click the links below to read the article abstracts:

• Lorson Lab: Cardiac defects contribute to the pathology of spinal muscular atrophy models
• DiDonato Lab: Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice
• Kaspar Lab: Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

To all of our Friends in the Fight:

It’s hard to believe that the summer months are quickly coming to a close. Many of you were just with us in Washington, April 27th for our Annual Conference, The Good Fight! We hope the summer has been fun, relaxing and restful for you all.

As we continue our hard work on the SMA Treatment Acceleration Act (H.R.2149, S.1158) and enter the month of August, we need your help. Elected officials in Washington represent our interests. We want to see a treatment and cure for spinal muscular atrophy (SMA). We need this final push, from August going forward, for Congress to pass OUR bill!

Every August, your Senators and Members of Congress head home for the district work period: a time to attend local events and interact with their you, constituents. This is a wonderful opportunity to see your Congressional representatives and ask for their help in passing the SMA Treatment Acceleration Act.

With November and elections just around the corner, time is of the essence. There are very few legislative days before the current Congress comes to a close at the end of this year.

Some of your representatives will be hosting “town hall” events or open houses where they welcome constituents - like you - to come and voice their top concerns. If you would be interested in attending one of these town halls to make your voice heard, you can call their district offices and ask if they plan on hosting a town hall or similar event. If not, find out if they will be attending local events where you might be able to speak with them: a festival, 5k race, opening of a community center, etc. You can even ask the district scheduler about making a specific appointment to see your member and tell your family’s story.

Remember: these Members of Congress are hired by YOU, the voter. They need to get face time with their constituents before Election Day in November. This is a wonderful opportunity to voice your opinion and support of the SMA Treatment Acceleration Act. They need to hear from you!

Once you’ve found an opportunity to meet your representative, what do you say?

• If your member is not a cosponsor, ask them to cosponsor the bill. Make it personal (i.e. tell your family’s SMA story/connection) and make sure to mention the name and number of the bill. (H.R.2149 in the House, S.1158 in the Senate).
• If your member IS a cosponsor of the bill, be sure to say “thank you!” Then, ask them to contact the Energy and Commerce Committee and let the committee know that passing the SMA Treatment Acceleration Act this year is one of their top priorities.

If you would like further talking points, or any question answered before meeting with your Member, FightSMA is here to help. Feel free to call Caroline Gibson anytime at 804-515-0080, or just send her an email at carolinegibson@fightsma.com. Caroline is here to to help you make this urgent and critical outreach.

Thank you all for your incredible hard work and dedication to seeing this bill through. We are a mighty army. United, we can and will see our dream come true: passage of The SMA Treatment Acceleration Act.

Yours in the fight,
FightSMA

In case you missed it, check out the follow-up post “August Targeted Grassroots Efforts.”

Dear Friends of FightSMA,

For the past two decades, FightSMA/Andrew’s Buddies Corporation has been dedicated to finding a treatment or cure for spinal muscular atrophy (SMA), the number-one genetic killer of babies under the age of two. FightSMA has brought attention to the disease through national and local media outlets, and the organization has worked tirelessly to raise money to fund critical research studies and campaigns. Thanks to the generous support of our friends in the fight, FightSMA has funded SMA researchers at academic institutions and biotech corporations in the United States, the United Kingdom, France, Italy and Canada. We have been involved since the initial (and successful) search for the gene that causes SMA and continue in the more recent efforts to identify compounds which can compensate for the faulty gene and, ultimately, provide treatment for the disease. (Read more about FightSMA’s work.)

We have been able to accomplish many great things over the years, thanks to the ongoing dedication of our friends, like you.

If you love the work that FightSMA is doing, this is another chance to help us! You have an exciting opportunity to help make even more of a difference in our community. The review website GreatNonprofits is conducting a campaign to identify the top-rated health nonprofits in the country.

Won’t you help us participate in the campaign by posting a review of your experience with us? All reviews will be visible to potential supporters and volunteers. It’s easy and only takes 3 minutes!

Click here to start your review. (Listed as Andrew’s Buddies Corporation.)

With your help, we can gain greater visibility in our community.

Thank you,
FightSMA

Thank you to everyone who came out for 4th Annual Rubber Duck Race, organized by Patrick’s Buddies/FightSMA New Jersey, Sunday, May 23, 2010 in Westfield, New Jersey’s Mindowaskin Park. The crowds turned out for an awesome race and helped raise funds to support the search for a treatment and cure for Spinal Muscular Atrophy (SMA), a deadly crippler and the number-one inherited genetic cause of infant death.

Special thanks to the members of the Rutgers Scarlet Knights football team who showed their support for the fight against SMA and to the volunteers who made the event possible.

Pictured above: Patrick with Eric LaGrande and Mohammed Sanu
from the Rutgers Scarlet Knights

Check out more pictures and video from the Duck Race on the Westerfield Patch’s website.

Prepared by Kathryn J. Swoboda, MD
Director, Pediatric Motor Disorders Research Program, University of Utah School of Medicine

Several years ago, Chang and colleagues published the initial observation that sodium byturate appeared to improve survival and motor function in a mouse model of SMA. Spurred by these observations, Butchbach and colleagues in the Burghes laboratory at Ohio State University subsequently began to painstakingly study other butyrate derivatives. Some of these compounds, when administered early in the course of disease in the SMA animal model, significantly improved survival, but the timing of administration proved critically important. It was clear that the compounds varied in potency, and that any benefit diminished significantly if treatment intervention were delayed. However, one of these butyrate derivatives, sodium phenylbutyrate, had been in clinical use for decades in the treatment of newborn infants with urea cycle disorders. The hypothesis that this compound, given early in the course of the disease, might improve outcomes ultimately resulted in the launch of the STOP SMA study in 2006: a phase I/II open label Study of sodium phenylbutyrate in pre-symptomatic infants with Spinal Muscular Atrophy. These efforts have been generously supported by many: FightSMA, MDA, FSMA, and the Kylee Galbraith Memorial SMA Research Fund at the University of Utah, with medication graciously provided by Ucyclyd Pharma.

We completed enrollment for the STOP SMA trial in April 2010, and early results appear promising: of six infants expected to develop type I, survival and respiratory support needs are considerably improved compared to their affected siblings and symptomatic type I infants in the database, and one infant achieved independent sitting. In addition, two of six children expected to develop type II disease achieved independent walking. In addition to the improved motor outcomes, electrophysiologic data indicate that these children have less significant denervation than expected for age based on a natural history studies. However, the next few months will undoubtedly prove critical in moving this work forward to achieve the ultimate goal of this project: demonstrating the feasibility of rapid identification of newborns with SMA in order to permit early intervention for the many promising new therapies on the horizon.

Over the next year, we anticipate completion of the final dataset for the STOP SMA trial, data analysis and dissemination, development of a STOP SMA trial registry and database for prospectively identified SMA subjects, and planning for the next steps forward to identify infants via newborn screening, using a recently validated pilot newborn screening assay. For the STOP SMA protocol, we developed a proactive monitoring program with protocol-driven interventions for nutrition and respiratory care, modeled after the current cystic fibrosis clinic model. However, further pilot studies are necessary to determine how to best implement such a program in several states in anticipation of the launch of a nationwide prospective newborn follow-up program in infants diagnosed with SMA on newborn screening. Development of this database, and dissemination of best practices and proactive monitoring protocols to physicians and parents will improve the quality and length of life and the standard of care provided to children with SMA. We are extremely grateful for the additional funds provided via the Pepsi Challenge, Stop SMA and FightSMA at this crucial time to move this project forward as quickly and efficiently as possible.

Kathryn J. Swoboda, MD
Associate Professor, Neurology and Pediatrics
Diplomate, American Board of Medical Genetics
Director, Pediatric Motor Disorders Research Program
University of Utah School of Medicine

RICHMOND, VA — Richmond-based FightSMA, a nonprofit dedicated to developing a treatment for the deadly childhood crippler spinal muscular atrophy (SMA), is awarding a $250,000 research grant to Dr. Brian Kaspar, a principal investigator at Nationwide Children’s Hospital and associate professor of The Ohio State University.

The grant will support safety and toxicity studies for AAV(-9), a potential “delivery system” for gene therapy for the treatment of SMA. “Our SMA gene therapy program at Nationwide Children’s Hospital and The Ohio State University continues to show great promise for treating SMA patients,” said Dr. Kaspar. “With this award, we will be able to test our therapy for potential safety or toxicity issues and provide important information for the regulatory process as we advance our program to the clinic in a swift and safe manner. We are all very thankful for the support of FightSMA.”

The grant has been made possible by funding both from FightSMA (www.fightsma.org) and from its associated partner organization, the Gwendolyn Strong Foundation (www.gwendolynstrongfoundation.org). “We are tremendously excited about the potential for gene therapy in SMA and our continuing collaboration with the Gwendolyn Strong Foundation and the SMA Community,” said FightSMA President Martha Slay. “Gene therapy research is a marathon run, but the work of Dr. Kaspar will advance the field significantly for SMA.”

Spinal muscular atrophy (SMA) is the leading genetic cause of infant death. SMA is caused by the absence of a gene that is critical for muscle strength, the SMN (”survivor motor neuron”) gene. That gene is absent in approximately one in 30 individuals. If both a man and woman are lacking the necessary SMN gene, the chances are 25% that any of their children will manifest SMA.

An objective of gene therapy is the restoration of the missing gene through delivery systems called “vectors.” Adeno-associated virus (AAV) is considered to be an attractive candidate for the construction of vectors.

FightSMA was created in 1991 with the mission to “strategically accelerate the development of a treatment or a cure for spinal muscular atrophy.” Working with the guidance of an international Scientific Advisory Committee, FightSMA has awarded SMA research grants at more than 40 universities and research institutions in the United States, Canada, the United Kingdom, France, and Italy. FightSMA has chapters across the United States and in Canada.

For more information, contact: www.fightsma.org or 804.515.0080

FightSMA Canada has been awarded a C$250,000 research grant from CML HealthCare of Mississauga. The Children’s Hospital of Eastern Ontario (CHEO) Foundation will match the grant, providing a total of C$500,000 to advance spinal muscular atrophy (SMA) research. The multi-year grant will support investigation into “clinic-ready agents” that can increase the presence of Survivor Motor Neuron, a protein that is essential for muscle strength and is deficient in children diagnosed with SMA.

“SMA is a devastating disease,” said CHEO research institute’s Dr. Alex MacKenzie. “It is the number-one genetic cause of death among infants.  This generous gift from CML HealthCare and the CHEO foundation will be key to moving the fight against SMA forward and will provide the thousands of children fighting this terrifying disease with hope for an effective treatment in the future,” said Dr. MacKenzie.

“CML HealthCare is excited about supporting the fight against SMA,” said Kent Nicholson, Executive Vice President and Chief Operating Officer. “We are very impressed and inspired by the determination and dedication of the researchers and families fighting SMA, and we are proud to be a part of the fight.”

“I want to express my appreciation for the support that CML HealthCare has provided and for their continued dedication in helping us find a cure for SMA,” said Tracy Lacey, President of FightSMA Canada. “CML’s efforts have made our recent research funding campaign one of the most successful that we have ever had.”

As a leading Canadian provider of diagnostic medical services, CML HealthCare is dedicated to providing patients with Care. Confidence. Comfort.™ The nearly 40-year-old company is one of largest providers of medical imaging services in North America and one of the largest community-based providers of laboratory testing services in Ontario.

“It is companies with vision, like CML HealthCare, that are truly changing our world,” said Martha Slay, President of FightSMA. “We all benefit from their generosity and from their example.”

FightSMA is an international nonprofit corporation dedicated to developing a treatment for spinal muscular atrophy (SMA). FightSMA has awarded SMA research grants to more than 40 universities and research institutions in Canada, the United States, the United Kingdom, France, and Italy.

CML HealthCare of Mississauga, Ontario has partnered with FightSMA Canada, to help find a cure for spinal muscular atrophy (SMA), the leading genetic cause of death among children under the age of two. The awareness of the devastating impacts of SMA is low among the general public. The new partnership will provide a greater voice in the efforts to raise funds and increase awareness of SMA in communities across Canada.

Spinal Muscular Atrophy (SMA) refers to a group of diseases, which affects the motor neurons of the spinal cord and brain stem. The disease does not discriminate on the basis of gender or ethnicity.

“CML HealthCare is proud to be a partner in the fight against SMA, “said Paul Bristow, President and Chief Executive Officer. “We take great pride in supporting research that gives those individuals with SMA a fighting chance.”

“FightSMA is excited to formalize our partnership with CML Healthcare in our efforts to find a cure. Working with CML over the past 2 years we have done great things together and we look forward to the future opportunities that this partnership provides to raise money and awareness for all of the individuals and families affected by SMA,” said Tracy Lacey, President of FightSMA Canada.”

As a leading Canadian provider of diagnostic medical services, CML HealthCare is dedicated to providing patients with Care. Confidence. Comfort.™ The nearly 40-year-old company is one of largest providers of medical imaging services in North America and one of the largest community-based providers of laboratory testing services in Ontario.

FightSMA is an international nonprofit corporation dedicated to developing a treatment for spinal muscular atrophy (SMA). FightSMA has awarded SMA research grants to more than 40 universities and research institutions in Canada, the United States, the United Kingdom, France, and Italy.

 FB23 [7:40m]: Play Now | Play in Popup | Download

In this episode of Fighting Back Podcast, we talk with Chad Boerst from Hill-Rom.  Hill-Rom is a sponsor of the 2010 FightSMA Annual Conference, in Washington D.C.  The company was also a sponsor of the 2009 conference.

Chad tells us about the products that Hill-Rom manufactures and sells that help SMA patients and families, and why Hill-Rom is such a big supporter of FightSMA.

To listen to our interview with Chad, can use the Flash mp3 player above.  You can also load the Fighting Back Podcast Feed into your favorite feed reader, subscribe via iTunes or other podcast directories, or simply use the download link above to load the file onto your computer.