We are very pleased to announce that legislation to enhance federal support for Spinal Muscular Atrophy (SMA) research, H.R. 2149, the “SMA Treatment Acceleration Act of 2009“, has been introduced in the U.S. House of Representatives by Congressman Patrick Kennedy (D-RI) and Congressman Eric Cantor (R-VA).  On behalf of our organizations and the families affected by this deadly disease, we want to express our gratitude and thanks to Congressmen Kennedy and Cantor for their leadership.

This legislation builds upon the success of the SMA Treatment Acceleration Act introduced in the 110th Congress, which garnered 85 cosponsors in the House and 21 in the Senate, including then-Senator Barack Obama.  The new version of the legislation has been modified slightly to ensure resources for SMA clinical efforts and infrastructure are maximized.

SMA is the number one genetic killer of children under the age of two.  It is an inherited disease that destroys the nerves controlling muscle movement, which affects crawling, walking, head and neck control, swallowing, and breathing.  Approximately one in 40 people, or approximately 7.5 million Americans, carries the gene mutation that causes SMA.  Each child of two carriers of the mutant gene has a one in four chance of being afflicted by SMA.

Among more than 600 neurological disorders, SMA has been singled out by the National Institutes of Health (NIH) as one of the diseases closest to treatment based on scientists’ advanced genetic understanding of the disease and a strong collaboration between families, federal agencies, and patient advocacy groups.  Researchers have identified the gene responsible for SMA, as well as a disease modifying “back-up” gene that has opened the door to promising new treatment pathways.  This research is providing groundbreaking data for SMA and other disorders, including the muscular dystrophies, Lou Gehrig’s disease, Friedriech’s Ataxia, Fragile X syndrome, and Huntington’s disease.

In order to build on the progress being made by investigators and bring treatments to children affected by SMA, a broad coalition of organizations, including Families of SMA, FightSMA, the Muscular Dystrophy Association (MDA) and the SMA Foundation, has united behind the SMA Treatment Acceleration Act of 2009, legislation aimed primarily at supporting a national clinical trials network for SMA.

Specifically, the “SMA Treatment Acceleration Act of 2009” provides for the following:

• Federal support for a national clinical trials network for SMA;
• Federal support to enhance the SMA patient registry and for expanded research on the epidemiology of SMA;
• Establishes an Interagency SMA Research Coordinating Committee to include federal agencies including NIH, SMA researchers, and SMA families, to coordinate government activities relating to SMA, develop a comprehensive strategy for improving and expanding SMA research, make recommendations to strengthen collaborative research across multiple institutes at NIH, and identify barriers to the development of drugs for treating SMA; and
• Provides for the Secretary of HHS to establish a program to provide information and education on SMA to health professionals and the general public

Our organizations are issuing a “Nationwide Call to Action” for all SMA families, researchers, and friends, to help engage every Member of Congress in support of this bill and the great efforts of Congressmen Kennedy and Cantor.

Kenneth Hobby
Families of SMA

Martha Slay
FightSMA

Annie Kennedy
MDA

Cynthia Joyce
SMA Foundation

————————–
NOTE: For more information on the “The SMA Treatment Acceleration Act” please contact any one of our Government Affairs staff:

Spencer Perlman, Families of SMA, spencer@fsma.org

Caroline Gibson, FightSMA, carolinegibson@fightsma.com

Annie Kennedy, MDA, akennedy@mdausa.org

Laura Lay, SMA Foundation, llay@wswdc.com

Click here to download the Joint Announcement.

From the University of Missouri News Bureau:

MU Researchers Discover Target that Could Ease Spinal Muscular Atrophy Symptoms

Jan. 7, 2009
Story Contact: Kelsey Jackson, (573) 882-8353, JacksonKN@missouri.edu

COLUMBIA, Mo. – There is no cure for spinal muscular atrophy (SMA), a genetic disorder that causes the weakening of muscles and is the leading genetic cause of infant death, but University of Missouri researchers have discovered a new therapeutic target that improves deteriorating skeletal muscle tissue caused by SMA. The new therapy enhanced muscle strength, improved gross motor skills and increased the lifespan in a SMA model.

“This therapy does not directly target the disease-causing gene; instead it targets the pathways that affect muscle maintenance and growth,” said Chris Lorson, investigator in the Christopher S. Bond Life Sciences Center and associate professor of veterinary pathobiology in the MU College of Veterinary Medicine. “We administered a particular protein, follistatin, to SMA mouse models to determine if enhanced muscle mass impacts the symptoms of SMA. After treatment, the mice had increased muscle mass, gross motor function improvement and an increase in average life span of 30 percent.”

With the therapy, MU researchers inhibited myostatin, a protein that limits muscle tissue growth. Myostatin activity can be reduced significantly by enabling several proteins that bind to myostatin, including follistatin. When myostatin is inhibited, muscle mass and strength increase.

SMA is caused by the loss of survival motor neuron-1(SMN1). Humans have a nearly identical copy gene called SMN2. Because of a single molecular difference, SMN2 alone cannot compensate for the loss of SMN1.

“While most work in the SMA field has logically focused on targeting the SMN2 gene, the results of this study suggest that skeletal muscle is a viable therapeutic target that may reduce the severity of some SMA symptoms,” said Lorson, who also is the scientific director for FightSMA, a private spinal muscular atrophy research foundation in Richmond, Va. “Because follistatin does not alter the expression level of SMN protein, the most effective treatment would combine strategies that directly address the genetic defect in SMA as well as SMN-independent strategies that enhance skeletal muscle.”

The study, “Delivery of recombinant follistatin lessens disease severity in a mouse model of Spinal Muscular Atrophy,” was published online in the December issue of Human Molecular Genetics. The research team also consisted of graduate students Frankie Rose and Virginia Mattis, and Hans Rindt, an assistant research professor. Recently, Lorson was awarded a $370,000 grant from the Muscular Dystrophy Association to continue his research on the role of muscle in SMA.

Click here for the original news release. To read the study’s abstract, click here.

From the University of Missouri News Bureau:

Molecular Therapy for Spinal Muscular Atrophy Closer to Clinical Use
MU researcher improves efficiency of trans-splicing therapy

Dec. 15, 2008
Story Contact: Kelsey Jackson, (573) 882-8353, JacksonKN@missouri.edu

COLUMBIA, Mo. - Spinal muscular atrophy, a neurodegenerative disorder that causes the weakening of muscles, is the leading cause of infant death and occurs in 1 in 6,000 live births. While trans-splicing (a form of molecular therapy) has had impressive results as a treatment for spinal muscular atrophy in cell-based models of disease, scientists have been unable to translate the therapy to the human body. A University of Missouri researcher has developed a strategy that will enhance trans-splicing activity and bring it closer to being used in the clinical setting.

Spinal muscular atrophy is caused by the loss of survival motor neuron-1(SMN1). In humans, a nearly identical copy gene is present called SMN2. Because of a single molecular difference, SMN2 alone cannot compensate for the loss of SMN1, but it can be used as a primary target for therapeutics, including trans-splicing. Trans-splicing therapy relies on splicing, or uniting, of mutant RNA and therapeutic RNA in order to correct RNA sequence.

To improve efficiency, the researchers developed a trans-splicing system that uses a strand of RNA that can bind to a gene and inactivate it. Turning the gene “off” reduces competition at splice sites and improves the likelihood of achieving the desired results.

“The key to introducing trans-splicing in clinical settings is developing efficient trans-splicing systems,” said Chris Lorson, investigator in the Christopher S. Bond Life Sciences Center; associate professor of veterinary pathobiology in the MU College Veterinary Medicine; and scientific director for Fight SMA, a private spinal muscular atrophy research foundation in Richmond, Va. “We have found that reducing the competition between the splice sites enhances the efficiency of trans-splicing. This strategy provides insight into the trans-splicing mechanism and significantly improves trans-splicing activity in a mouse model of spinal muscular atrophy.”

The study, “Development of a Single Vector System that Enchances Trans-splicing of SMN2 Transcripts,” was published in PLoS ONE and was co-authored by Lorson; MU researchers Tristan H. Coady, Travis D. Baughan and Monir Shababi; and Genzyme Corporation neuroscience researcher Marco A. Passini.

Click here for the original news release.

This work was funded by grants from the MDA, FightSMA, and the National Institutes of Health. To read the published article mentioned in the news release, click here.

From the Press Release:

TREAT-NMD–EMEA workshop on clinical outcome measures in SMA signals collaborative approach to future clinical trials

TREAT-NMD, an EU-funded ‘network of excellence’ that aims to accelerate cutting-edge treatments for rare inherited neuromuscular diseases, announces a successful meeting on spinal muscular atrophy (SMA) outcome measures with the European Medicines Agency (EMEA).

A TREAT-NMD-led workshop hosted at the offices of the EMEA in London helped set the collaborative agenda for future trials in SMA. Participants included 50 representatives from the neuromuscular field, including healthcare professionals, scientists, patients and pharmaceutical industry representatives. EMEA representatives included the chairs of the Human Medicinal Products, Paediatric Medicines and Orphan Drugs Committees. There was active participation from all parties. Input from the International Care Committee (ICC) for SMA ensured that there was global representation at the meeting, the outcomes of which will also be shared with the US Food and Drug Administration (FDA).

In a new development for the neuromuscular field, the workshop focused not on discussing product-specific issues but on establishing broader common ground between the regulatory authorities and those interested in running clinical trials in SMA. In order for trials to move through the approval process without delays, consensus between trial planners and regulators on endpoints and novel methodologies is essential.

The SMA community is working extensively together and the meeting demonstrated this close link as all present spoke with a united voice on the most appropriate outcome measures for particular clinical situations. The community was complimented on its proactive approach to regulatory topics, its organisation and its international teamwork in addressing clinical trial questions for SMA.

To read the full press release, click here.

From the Monday, October 27, 2008 press release by the Social Security Administration:

Social Security Announces Nationwide Launch of Compassionate Allowances
Process Will Fast Track Applications For People with Cancers and Rare Diseases

Michael J. Astrue, Commissioner of Social Security, today announced the national rollout of the agency’s Compassionate Allowances initiative, a way to expedite the processing of disability claims for applicants whose medical conditions are so severe that their conditions obviously meet Social Security’s standards.

“Getting benefits quickly to people with the most severe medical conditions is both the right and the compassionate thing to do,” Commissioner Astrue said. “This initiative will allow us to make decisions on these cases in a matter of days, rather than months or years.”

Social Security is launching this expedited decision process with a total of 50 conditions. Over time, more diseases and conditions will be added. A list of the first 50 impairments — 25 rare diseases and 25 cancers — can be found at www.socialsecurity.gov/compassionateallowances.

This list includes: “Spinal Muscular Atrophy (SMA) - Types 0 And 1.”

To read the full press release, click here.

RICHMOND, June 6, 2008 — This week, the entire Virginia delegation to Congress has unanimously signed on as co-sponsors of the SMA Treatment Acceleration Act, a bill designed to increase federal support for research to develop a treatment for spinal muscular atrophy (SMA), the number-one inherited cause of infant death.

“This tremendous show of support and leadership will bring hope to thousands of families battling this deadly neuromuscular disorder,” said Martha Slay, president of Richmond-based FightSMA, one of the groups that is supporting the legislation.

“The Virginia delegation is setting a wonderful, bipartisan precedent for the rest of Congress and the Senate where we need to continue to build support this year for this legislation,” said Ms. Slay. “It is immensely gratifying that our home state has come through in such a big way.

“We particularly appreciate the support of Congressman Eric Cantor of Richmond, who was the original sponsor, along with Congressman Patrick Kennedy of Rhode Island. We would not be where we are today without Congressman Cantor taking the lead on this legislation,” said Ms. Slay.

The SMA Treatment Acceleration Act authorizes federal funding to:

• Upgrade and unify existing SMA clinical trials sites and establish a national clinical trials network for SMA.
• Establish a Data Coordinating Center to provide expert assistance and advice to SMA clinical trials sites.
• Expand and intensify federally supported research programs with respect to pre-clinical translational research related to SMA.
• Establish a research collaborative at the National Institutes of Health to ensure cooperation across multiple Institutes regarding research related to SMA.
• Enhance and provide ongoing support to the existing SMA patient registry in order to provide for expanded research on the epidemiology of SMA.
• Establish an SMA Coordinating Committee, consisting of representatives from relevant government agencies and the public, to coordinate government activities relating to SMA, serve as the principal advisor to agency heads, and conduct a study to identify barriers to the development of drugs for treating SMA and report findings and legislative recommendations to Congress.
• Require the Secretary of Health and Human Services to collaborate with the FDA and the Coordinating Committee to make recommendations for improving and expanding existing industry incentives to promote SMA drug development.
• Establish and implement a program for providing information and education on SMA to health professionals and the general public related to advances in the diagnosis and treatment of SMA and the provision of care to SMA patients.

The SMA Treatment Acceleration Act is supported by Families of SMA, FightSMA, the Muscular Dystrophy Association, and the SMA Foundation.

Co-sponsors from Virginia are: Senator John Warner, Senator Jim Webb, Congressman Eric Cantor, Congressman Rick Boucher, Congressman Jim Moran, Congresswoman Thelma Drake, Congressman Robert Wittman, Congressman Bobby Scott, Congressman Randy Forbes, Congressman Virgil Goode, Congressman Bob Goodlatte, Congressman Frank Wolf, and Congressman Tom Davis.

FightSMA, a nonprofit 501c3 corporation, was founded in Richmond, VA, in 1991 with the mission “to strategically accelerate research for a treatment and a cure for spinal muscular atrophy (SMA), the leading genetic cause of infant death.”

For more information, contact FightSMA at www.fightsma.org or 804.515.0080.

Not only was yesterday Mother’s Day, it’s also the time of year when most colleges are holding their graduation ceremonies. A story on the front page of the Chicago Tribune story yesterday celebrated both. Lucy Trevino, who has Spinal Muscular Atrophy Type 3 and is confined to a wheelchair, graduated this past weekend with an engineering degree. Her mother, Rosa, helped make it possible, by being right there with her in class, to assist with all of the things that SMA wouldn’t allow Lucy to do…

For the six years it took to get through one of the most rigorous programs in the College of Engineering, it was Rosa—a tad shy and always thinking two steps ahead—who got her daughter to every class, lab and study session. She knew which text and notebook to lay on Lucy’s desk. And she turned the pages when a heavy book tired Lucy’s hands.

For two or three hours, as Lucy absorbed lectures in calculus or thermodynamics or circuit analysis, Rosa sat not far away, just in case Lucy needed a sip of water or began choking.

To read the entire wonderful story, please visit the Chicago Tribune website. A video of Lucy and Rosa is also available on that page.

Publicity works. That’s the lesson from the story of an SMA family that was turned down for a power wheelchair by their insurance company.

Realizing their son would never walk, the parents of three-year-old Liam Russell, who has Spinal Muscular Atrophy Type II, filed a claim with their insurance company, Assurant, for a power chair. Assurant, however, refused to pay for even a portion of the chair, saying their policies don’t cover electric wheelchairs.

Liam’s parents did two things in response to this, showing they’re true “Fighter Parents” — first, they started a fundraising campaign for donations to buy the chair themselves. They also appeared on national television to tell their story. ABC’s Good Morning America did a story on the family’s predicament and their insurance company’s response.

Lo and behold, Assurant responded after the airing of the story that they were reviewing their policies regarding power chairs. Shortly thereafter, they announced that they would in fact provide coverage for power chairs for new policy holders.

The Russell family will not need Assurant’s help. Their fundraising efforts brought them enough money to purchase Liam’s chair. However, their publicity efforts will help future families in similar situations.

To see video from the GMA story (and Liam, who is adorable), please visit the ABC News video site.

FightSMA New York’s Second Annual Gallery Walking Tour will take place on Saturday, Nov. 3 from 2-4 pm at some of Chelsea’s most innovative and inspiring galleries.

New York, New York (PRWEB) October 31, 2007 — Participants in an upcoming walking tour of art galleries in New York’s Chelsea neighborhood will not only learn about featured artists and the inner workings of art galleries, they’ll also raise money for a child-killing disease. The SMA Walking Tour, to be held on November 3, 2007, will raise funds for research into spinal muscular atrophy. The tour will visit six different locations over a two hour period, allowing participants a behind-the-scenes look at how art galleries operate.

Spinal muscular atrophy (SMA) is the leading genetic killer of children under two. The neuromuscular disease causes a wasting of the muscles, robbing its victims of the ability to run, walk, crawl, play and, in many cases, even breathe or swallow.

“I’d like to thank the participants of the walking tour in advance for their support,” said Kathy Tompkins, chair of FightSMA’s New York chapter. “It’s critical that we find a cure for this disease, particularly since research into SMA benefits dozens of other disorders.”

The event is organized by Andrew’s Buddies of New York, the New York chapter of international nonprofit Fight SMA. The tour will begin at 2:00 p.m. and end at 4:00 p.m. Participants will start at Rare Gallery (521 West 26th Street) and continue on to DAmelio Terras, Friedrich Petzel, Nicole Klagsbrun, Lombard-Freid Projects, and Postmasters Gallery. Each gallery director will speak about the style of the emerging artist featured in the current exhibition.

The suggested contribution is $25 per person.

For more information ont the walking tour, please visit www.fightsma.org or call Caroline Gibson at (804) 515-0080.

About Fight SMA:
Headquartered in Richmond, Virginia, Fight SMA (also known as Andrew’s Buddies) is an international nonprofit group dedicated to accelerating research for a treatment or a cure for spinal muscular atrophy (SMA), a neuromuscular disorder that kills more babies than any other genetic disease. For more information on spinal muscular atrophy and Fight SMA, please visit http://www.fightsma.org The latest SMA news and research information is available at the Spinal Muscular Atrophy Blog, at http://www.fightsma.org/blog

We are very pleased to announce that legislation to enhance federal support for Spinal Muscular Atrophy (SMA) research, H.R. 3334, “The SMA Treatment Acceleration Act”, has been introduced in the U.S. House of Representatives by Congressman Patrick Kennedy (D-RI) and Congressman Eric Cantor (R-VA). U.S. Senator Debbie Stabenow (D-MI) and Senator Johnny Isakson (R-GA) plan to introduce companion legislation in the Senate when Congress returns from its August district work period. On behalf of our organizations and the families affected by this deadly disease, we want to express our gratitude and thanks to Congressmen Kennedy and Cantor and Senators Stabenow and Isakson for their leadership.

SMA is the number one genetic killer of children under the age of two. It is an inherited disease that destroys the nerves controlling muscle movement, which affects crawling, walking, head and neck control, swallowing, and even breathing. Approximately one in 40 people, or approximately 7.5 million Americans, carry the gene mutation that causes SMA. Each child of two carriers of the mutant gene has a one in four chance of being afflicted by SMA.

Among more than 600 neurological disorders, SMA has been singled out by the National Institutes of Health (NIH) as the disease closest to treatment based on scientists’ advanced genetic understanding of the disease and a strong collaboration between families, federal agencies, and patient advocacy groups. Researchers have identified the gene responsible for SMA, as well as a disease modifying “back-up” gene that has opened the door to promising new treatment pathways. Research involving the modulation of genes stands to benefit not only SMA, but other genetic disorders, including Duchenne Muscular Dystrophy, Parkinson’s, and Alzheimer’s. In recent Congressional testimony by the NIH, it was noted that “research on SMA illustrates the path from gene to understanding to treatment.”

In order to build on the progress being made by investigators and bring treatments to children affected by SMA, a broad coalition of organizations, including FightSMA, Families of SMA, and the SMA Foundation, has united behind the SMA Treatment Acceleration Act, legislation aimed primarily at supporting a national clinical trials network for SMA.

Specifically, “The SMA Treatment Acceleration Act” provides for the following:

• Federal support for a national clinical trials network for SMA;
• Federal support to enhance the existing SMA patient registry and for expanded research on the epidemiology of SMA;
• Establishes an SMA Coordinating Committee to include federal agencies, SMA researchers, and SMA families, which shall study barriers to development of SMA treatments;
• Establishes a trans-Institute research collaboration at NIH under the Director to ensure that all relevant Institutes are contributing and collaborating on SMA research;
• Requires the Secretary of the U.S. Department of Health and Human Services (HHS) to study and report to Congress on the use of incentives to promote SMA drug development among private industry;
• Provides for the Secretary of HHS to establish a program to provide information and education on SMA to health professionals and the general public

Our organizations will be issuing a “Nationwide Call to Action” for all SMA families, researchers, and friends, to help engage every Member of Congress in support of the this bill and the great efforts of Congressmen Kennedy and Cantor and Senators Stabenow and Isakson.

Cynthia Joyce
SMA Foundation

Kenneth Hobby
Families of SMA

Martha Slay
FightSMA

NOTE: For more information on the “The SMA Treatment Acceleration Act” please contact any one of our Government Affairs staff:

Laura Breiteneicher
SMA Foundation
laurab@wswdc.com

Spencer Perlman
Families of SMA
spencer@fsma.org

Caroline Gibson
Fight SMA
carolinegibson@fightsma.com