This summer, FightSMA and the Gwendolyn Strong Foundation (GSF) partnered in an effort to raise funding for spinal muscular atrophy (SMA) gene therapy research.

GSF’s goal is to raise $200,000 before the end of 2010. Today, they announced that they have reached the halfway mark.

From GSF:

Less than TWO months after launching our “$200K For SMA” fundraising campaign in support of promising SMA focused gene therapy research at Nationwide Children’s Hospital and The Ohio State University, friends, families, colleagues, coworkers, communities, and total strangers across the country - some impacted by SMA and many not - have come together to organize and execute an impressive laundry list of wonderful fundraisers totaling over - DRUM ROLL PLEASE - One Hundred Thousand Dollars. That’s right. $100,000!!! In…just…TWO…months.

There’s just no other way to say it - what’s happening here is incredible, inspiring, and humbling. And we are personally honored to be part of all of this positivity - it fuels us to push forward and do more. At our core, we’ve always believed in the power of the individual. And as individuals, if we collectively work together in a positive, productive fashion, we can have an enormous impact and change the status quo.

Click here to read the full announcement.

A huge “THANK YOU!” goes out to everyone who has been involved in raising funds for GSF’s “$200K for SMA” (read the list here) and FightSMA’s “Realizing the Dream” - campaigns worked together towards the same goal: to bring SMA gene therapy to clinical trial.

The web magazine, Slate, has a thought-provoking article entitled “The Medical Revolution: Where are the cures promised by stem cells, gene therapy, and the human genome?” which addresses the difficulties of developing new therapies.

To read the article, click here.

The following are three National Institutes of Health (NIH) funding opportunities that may be of interest to researchers working toward a treatment and cure for spinal muscular atrophy (SMA), a deadly crippler and the number-one inherited genetic cause of infant death.

Exceptional, Unconventional Research Enabling Knowledge Acceleration (EUREKA) (R01)
Application Due Date: October 21, 2010
Solicits proposals for exceptionally innovative research on novel hypotheses or difficult problems, solutions to which would have an extremely high impact on biomedical or biobehavioral research. Support may be requested for up to $800,000 in direct costs (excluding consortium F&A) over a four-year period, not exceeding $250,000 (direct costs, excluding consortium F&A) in any one year. (Note, that over the last three years the EUREKA mechanism has had a success rate much more in line with standard R01 applications. Each of these offers an opportunity not as easily addressed in regular NIH funding mechanisms.)

NIH Common Fund Transformative Research Projects Program (R01)
Application Due Date(s): October 27, 2010
Solicits applications proposing groundbreaking, exceptionally innovative, high risk, original and/or unconventional research with the potential to create new scientific paradigms or challenge existing ones. Budget requests should be commensurate with project needs for up to a five-year project period. Up to one third of the budget for this FOA will be reserved projects exceeding $1 million dollars in direct costs.

Scalable Assays for Unbiased Analysis of Neurobiological Function (R01)
Application Due Date: November 17, 2010
Solicits applications to develop novel, robust analytical platforms using in vitro assays to reveal changes in neuronal and/or glial function. The goal is to adapt state-of-the-art measures of basic cellular processes or molecular events that are key mediators of brain function with the intent to probe mechanisms and/or perturbations in an unbiased and efficient manner. The novel assay platforms would provide opportunities to measure neurobiological endpoints and build a pipeline to be used in the context of target identification and drug discovery.

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.

“We are very encouraged by the ability of gene delivered follistatin to increase muscle mass and strength along with a relatively clean safety profile in our studies to date,” say Drs. Jerry Mendell and Brian Kaspar of The Research Institute at Nationwide Children’s Hospital. “While the first trials of follistatin are planned for Becker Muscular Dystrophy and Inclusion Body Mysositis, if proven safe and efficacious, Spinal Muscular Atrophy patients may also benefit from this treatment.” Work in the Kaspar Laboratory is currently testing gene delivered Follistatin in various SMA models.

From Nationwide Children’s Hospital:

Parent Project Muscular Dystrophy Awards $600K to Nationwide Children’s Hospital for Gene Therapy Study

Dr. Jerry Mendell Leading Follistatin Gene Therapy

Columbus, OH - 8/10/2010

Parent Project Muscular Dystrophy (PPMD), the largest non-profit organization in the United States focused on finding a cure for Duchenne muscular dystrophy (Duchenne), announced that PPMD will award a $600,000 grant to Nationwide Children’s Hospital in Columbus, Ohio to conduct clinical testing of a promising gene therapy technique for muscle disease.

Investigators, led by Jerry Mendell, M.D., director of the Center for Gene Therapy in The Research Institute at Nationwide Children’s Hospital with co-investigator Brian Kaspar, Ph.D, will inject a modified virus (vector) carrying the gene for the muscle growth-stimulating protein follistatin into the quadriceps muscles of volunteers with Becker muscular dystrophy and sporadic inclusion body myositis. The goal of the study is to verify that the procedure is safe and to document any increase in quadriceps muscle size and function. People with these diseases have overall muscle weakness but with particular weakness of the quadriceps muscle, which is important for standing and sitting. Preliminary studies in mice with muscular dystrophy and in non-human primates demonstrated that follistatin delivered in this manner can cause significant increases in the size of injected muscles. Improvements in the strength of the mice and non-human primates were documented.

PPMD funding for the project will cover the costs of manufacturing the clinical grade viral vectors, and the costs associated with the clinical testing. If the initial study is successful, the investigators will expand the research to a phase II study and will also make plans to test it in Duchenne muscular dystrophy and other muscle diseases. The first clinical studies are planned to start in early 2011.

“This is the first time a gene therapy approach has been used to supply genes that generically stimulate muscle growth rather than directly replacing missing muscle proteins,” explains Sharon Hesterlee, Ph.D., PPMD Senior Director of Research and Advocacy, “Other applications could include the treatment of muscles that have been injured directly through accidents or indirectly through disuse.”

To read the rest of the announcement, click here.

In October, a workshop and a course will be held that may be of interest to researchers and medical professionals involved with spinal muscular atrophy (SMA).

At the beginning of October, the Center for Continuing Medical Education at Columbia University in New York will hold a course to update clinicians and caregivers about therapies in development, the new consensus on patient management, and ways to participate in upcoming clinical trials. Supported by a grant from the New York-based SMA Foundation, “Recent Advances in SMA and Other Pediatric Neuromuscular Diseases” will be held October 2nd and is “an intensive one-day course designed for medical professionals, including physicians, nurses, genetic counselors, physical, occupational, and respiratory therapists, with an interest in pediatric neuromuscular diseases.” For more information about the course, click here.

Later in the month, a three-day workshop (October 18-20) about conducting research on rare diseases and orphan products will be held in Rockville, Maryland. Sponsored by the Food and Drug Administration (FDA), agencies of National Institutes of Health (NIH), the National Organization for Rare Disorders (NORD), and Duke University Medical Center, the “Accelerating Therapies for Rare Diseases” workshop “focuses on FDAs regulatory requirements and the clinical trial issues that are especially relevant to rare disease research.” Speakers will include members of academia, government agencies, and the private sector. For more information about the workshop, click here.

From Nationwide Children’s Hospital:

Spinal Muscular Atrophy May Also Affect the Heart

Study details new findings in mouse model of disease; highlights existing gene delivery approach that may provide therapy

Columbus, OH - 8/11/2010

Along with skeletal muscles, it may be important to monitor heart function in patients with spinal muscular atrophy (SMA). These are the findings from a study conducted by Nationwide Children’s Hospital and published online ahead of print in Human Molecular Genetics. This is the first study to report cardiac dysfunction in mouse models of SMA.

SMA is a debilitating neurological disease that leads to wasting away of muscles throughout the body. Historically, scientists and physicians believed that SMA only affected skeletal muscles; however, new data suggests that this genetic disease may also impact the heart.

“A few studies regarding SMA patients have implicated the involvement of the cardiovascular and the autonomic nervous system,” said the study’s co-author Brian Kaspar, PhD, principal investigator in the Center for Gene Therapy at The Research Institute at Nationwide Children’s Hospital. “However, there have been few to no highly powered and controlled studies to determine how common these cardiovascular anomalies are in these patients.”

The reports of altered blood flow and slowed heart rate in some SMA patients prompted Kaspar’s team to examine whether a cardiac deficit is present in a mouse model of severe SMA, developed by Arthur Burghes, PhD, professor of Molecular and Cellular Biochemistry at The Ohio State University College of Medicine, which is routinely used for drug and therapeutic-based screening.

They analyzed heart structure of the SMA mice compared with normal mice, and found that there were significant structural changes occurring in the heart of the SMA mice, along with severely impaired left-ventricular function. SMA mice also had significantly lower heart rates. After examining the underlying structure of the mouse heart cells they found it similar to the cellular structure of a heart biopsy from patient with type 3 SMA.

To read the rest of the article from Nationwide Children’s Hospital, click here.

To read the abstract of the journal article, click here.

To learn more about gene therapy, click here.

To learn more about spinal muscular atrophy, click here.

Following the publication of his team’s gene therapy work with AAV-9 in spinal muscular atrophy (SMA) mouse models (Foust et al., Nature Biotechnology), Dr. Brian Kaspar participated in Nationwide Children’s Hospital’s monthly podcast about neuromuscular research. In this podcast, Dr. Kaspar spoke about a number of topics including:

• What is spinal muscular atrophy (SMA)
• The genetics of SMA
• The difficulty developing treatments for SMA
• The results AAV-9 has shown in SMA mouse models
• The need for additional studies before moving to human trials
• The next steps toward the clinic

The podcast is available by clicking here and scrolling to the May podcast. At the time of this post, there is a problem in how the podcast is available on the Nationwide Children’s Hospital website. The audio file has a comma added at the end of the file type which prevents players from recognizing file type. In order to play the podcast, simply download it to your computer, select the file name, and remove the comma. Your computer should then recognize the podcast as a MP3 file.

Recently, FightSMA launched the “Realizing the Dream” fundraising campaign which partners with the Gwendolyn Strong Foundation to advance a common goal: to bring SMA gene therapy to clinical trial. These efforts will support Dr. Kaspar and other collaborating scientists. To learn more about the gene therapy campaign and how you can get involved, click here.

In the current issue of Quest magazine, our friends at MDA discuss a recent multi-center study that suggests spinal muscular atrophy (SMA) patients who are unable to walk but are otherwise considered to have “relatively high motor function” are at a higher risk for weight gain. This is when compared to SMA patient who do walk and to SMA patients who do not walk but have a lower level of motor function. The results seem to reinforce the importance of managing nutrition in the care of SMA patients.

To read the entire article in Quest, click here. To read the abstract of the study, click here.

For more information about SMA and nutrition, check out the links below.

• “Spinal Muscular Atrophy GI and Nutrition Care” on FightSMA’s website
• “Investigating the Impact of Nutrition on SMA” from the FightSMA’s blog
• A Family Guide to the Consensus Statement for Standard of Care in Spinal Muscular Atrophy
  Published by The Patient Advisory Group of the International Coordinating Committee (ICC) for SMA Clinical Trials
• Consensus Statement for Standard of Care in Spinal Muscular Atrophy
  Prepared by the Standard of Care Committee for Spinal Muscular Atrophy, a standing committee of the International Coordinating Committee for Spinal Muscular Atrophy

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.