On July 21, 2010, the U.S. Senate Committee on Health, Education, Labor and Pensions (HELP) heard testimony from panelists discussing Rare and Neglected Pediatric Diseases. One of these diseases was spinal muscular atrophy (SMA).

Two of the panelists were Dr. Alan Guttmacher and Mr. John F. Crowley.

Dr. Guttmacher, who is the Acting Director at the National Institute of Child Health and Human Development (NICHD), spoke on the importance of SMA and SMA research to NIH and its officials.

Mr. Crowley, CEO and Chairman of Amicus Therapeutics, spoke about patient advocacy, and the admirable work and advocacy that FightSMA has exhibited over the years.

Click here to read the transcript of Dr. Guttmacher’s testimony and here for the transcript of Mr. Crowley’s testimony. For more information about the hearing, including the testimony of other panelists and video of the hearing, click here.

Tags: National Institute of Child Health and Human Development, National Institutes of Health, Rare Disease, research, spinal muscular atrophy, U.S. Senate, video

On Saturday, July 10, Desiree’s Buddies, FightSMA’s New Mexico chapter, held it’s first annual bowling tournament. The fund raised will help support FightSMA’s mission to strategically accelerate the search for a treatment and cure for spinal muscular atrophy (SMA), including FightSMA’s recently launched gene therapy fundraising initiative “Realizing the Dream“.

Thank you to everyone who came out to bowl and to support Desiree’s Buddies.

Tags: desirees buddies, fundraiser, New Mexico, realizing the dream, spinal muscular atrophy

Gwendolyn Strong Foundation Is Campaign Partner

RICHMOND, VA - Richmond-based FightSMA announced today a new fundraising campaign for spinal muscular atrophy (SMA) gene therapy, “Realizing the Dream.” FightSMA is collaborating with the Santa Barbara–based Gwendolyn Strong Foundation, to form a bi-coastal partnership with a common goal: to bring SMA gene therapy to clinical trial.

“Ten years ago, it would have been unheard of to say scientists were approaching a treatment or cure for spinal muscular atrophy,” said FightSMA President Martha Slay. “Today, the dream is being realized in some of the most prestigious labs across the country. Never before has there been such promise for SMA gene therapy.”

Beginning now and for the next three years, families and groups in the SMA community will raise funds to build a safe foundation, deliver genes to an SMA model, and produce adequate vector (gene delivery) supply. These efforts will support Dr. Brian Kaspar (pictured left) of Nationwide Children’s Hospital and The Ohio State University and other collaborating scientists.

FightSMA, working with the Gwendolyn Strong Foundation, a funding source for critical SMA science and awareness initiatives, invites the SMA community to make a decade-old dream come true. “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.

FightSMA’s objective for the balance of 2010 is to complete funding for Phase One and for Year-One of Phase Two of the research program. “The first objective is to build a solid foundation of safety and to eliminate toxicity,” said Dr. Chris Lorson, FightSMA Science Director. Additionally, FightSMA plans to raise another $250,000 to fund the first year of Phase Two (Delivery & Efficacy). The “Realizing the Dream” program will be accomplished through a series of campaigns. Completing these two Phases will bring SMA gene therapy significantly closer to clinical trial.

FightSMA has been instrumental in helping to develop a gene therapy strategy to cure spinal muscular atrophy (SMA), including oligonucleotides and gene replacement vectors. The strides that SMA researchers have made in the gene therapy arena have provided insights into a range of genetic disorders, including other neurodegenerative disease (ALS/Lou Gehrig’s disease, myotonic dystrophy, Huntington disease) and other diseases such as Duchenne muscular dystrophy.

For more information on the FightSMA-Gwendolyn Strong Foundation partnership and “Realizing the Dream” campaign, visit www.fighsma.org or call 804-515-0080.

FightSMA was created to strategically accelerate the search for a treatment and cure for spinal muscular atrophy (SMA), the number-one inherited cause of infant death. The organization pursues this objective by raising awareness and funding for SMA research.

Tags: Brian Kaspar, chris lorson, fundraising, gene therapy, Gwendolyn Strong, Martha Slay, realizing the dream, spinal muscular atrophy

Last year, the Nyhuis family and their friends, family, and community organized their first lemonade stand to raise funds to support FightSMA’s mission to strategically accelerate research toward treatment and cure for spinal muscular atrophy (SMA), a deadly crippler and the number-one inherited genetic cause of infant death. Calling their group “Tatum’s Team,” after the young girl diagnosed with type 3 SMA, they raised $250.

On June 5th, they were at it again, holding another lemonade stand. This year they’re efforts were rewarded 500% as they raised $1,500 from supporters in their Virginia neighborhood and across the country who want to join the fight to end this disease.

Thank you to all the members of Tatum’s Team for your fantastic work!

Tags: fundraiser, SMA Type 3, spinal muscular atrophy, Virginia

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

Tag: 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.

Tags: fightsma, fundraiser, new jersey, spinal muscular atrophy, video

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

Tags: fightsma, Kathy Swoboda, presymptomatic, research, spinal muscular atrophy, Stop SMA

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

Tags: Brian Kaspar, fightsma, gene therapy, realizing the dream, research, spinal muscular atrophy

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.

Tags: Alex MacKenzie, Canada, Childrens Hospital of Eastern Ontario, CML Healthcare, fightsma, Martha Slay, research, toris buddies

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.

Tags: Canada, CML Healthcare, fightsma, research