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

Nutrition is a critically important variable in the well-being of spinal muscular atrophy (SMA) patients, and there are many complex issues to be considered in the dietary management of an individual SMA patient. While as a community, we have made much ground toward a consensus on best practices for management of respiratory care issues, nutrition is still a relatively uninvestigated, and controversial, subject. This is an extremely important issue, particularly with regard to type 1 SMA children, who are extremely fragile, and often require special attention and management of dietary issues.

With support from SMA Angels Charity, the Pediatric Motor Disorders Research Program at the University of Utah has launched a new website, www.smaandnutrition.org to help SMA families provide SMA researchers with information that will help them investigate the impact of nutrition on the disease and to help SMA families evaluate their current nutritional regimen. From now until June 14, we’d like to especially ask all families with type 1 SMA patients to complete the SMA Type 1 Nutritional Survey, whether or not your child is on any special kind of special diet. This on-line survey should take approximately 15 minutes. The survey includes questions about feeding regimens and methods; select medications, equipment, and medical interventions; specific type of formulas regularly given to the patient; and how the diet is determined and adjusted. The short-term goal is to gather data on the frequency of use of special diets for type 1 children and to better identify the similarities and differences of types of special diets currently prescribed. We hope to gather information from as many possible families before June 14, and hope to present preliminary results in June.

**Please Note: Ideally, all participating families will fill out a detailed dietary record when they submit answers to the nutritional survey. The ultimate goal of this website is to serve as a tool to help provide feedback to families about their child’s diet, resulting in a report about possible nutritional deficiencies and recommendations that you can share with your local dietician and care providers. However, depending on how many responses received to this initial request, dietary record analysis may be delayed. During this initial launch period, they hope to assess how useful a tool this may be by assessing the interest of the community in this project. Ultimately, this project will only be successful with a majority of the community participating. Your participation is greatly appreciated!

The www.smaandnutrition.org also provides a link to the nutritional guidelines for SMA patients on the University of Utah School of Medicine research website. These guidelines need to be refined by real data from SMA patients. Participation in the survey requires a login and password. In order to receive login information for the website, SMA patients must be enrolled in the IRB approved research study “Clinical and Genetic Studies in SMA” which allows University of Utah to collect data about you or your child’s experiences and medical issues in living with SMA. Participants or their parent/guardian must sign a consent form to allow University of Utah to contact you to ask additional questions about you or your child’s medical history. It is not necessary to participate in the full study; you may elect to participate just for the nutritional part. To obtain a login, email smadiet@gmail.com or contact the Pediatric Motor Disorders Program research office for more information at 801-585-9717.

The material above was prepared with the assistance of individuals at the University of Utah’s Pediatric Motor Disorders Research Program and at SMA Angels Charity, Inc..

The 2010 FightSMA Annual Conference, entitled “The Good Fight,” opened in yesterday, April 25th, at the L’Enfant Plaza Hotel in Washington, D.C with an international collection of researchers gathering to discuss spinal muscular atrophy (SMA) and related sciences. FightSMA’s Science Director, Dr. Chris Lorson, started off the meeting with a brief introduction before attendees heard from Dr. Kathy Swoboda from the University of Utah, Dr. Rashmi Kothary from Ottawa Health Research Institute, Dr. Livio Pellizzoni from the Columbia University Center for Motor Neuron Biology and Disease, and Dr. Allison Ebert University of Wisconsin-Madison. After dinner, Dr. Charlotte Sumner of the Johns Hopkins University School of Medicine, Dr. Barrington Burnett of National Institute of Neurological Disorders and Stroke, and Dr. Michael Sendtner from the University of Wurzburg (Germany). Topics of the evening included SMA clinical trials, mouse models, and iPS cells.

The researchers’ portion of the conference resumes today with additional presentations and discussions wrapping up shortly before the families and friends portion opens at 5:00PM with an introduction by FightSMA’s president, Martha Slay, and a Science Update by Dr. Lorson. This and the “Thriving with SMA” panel will be available by webcast, free of charge, for families and caregivers unable to attend the conference in person.

The H1N1 flu has added even more stress to a season that is already very tense for families affected by spinal muscular atrophy (SMA) - cold and flu season. Here are a couple of notes that will hopefully help these families.

Doctors have recommended that SMA patients get both the regular and swine flu shots.

MDA has advised that “the intranasal form (sprayed into the nose)…variety of the vaccine is not recommeded for those affected by neuromuscular disease since it contains an attenuated (weakened) form of the H1N1 virus.”

Dr. Kathy Swoboda, of the University of Utah, has recommended that parents of “fragile children with SMA to get a prescription if possible for tamiflu, to be started at the earliest onset of flu-like symptoms” and that “those vulnerable individuals who are exposed to actively infected family members living within a household should begin treatment as well.” She also recommended that families “consult with your doctor regarding individual specific circumstances.” (For more information, click here. SMASpace membership and login required.)

Additional resources for getting through this flu season:

• CDC’s 2009 H1N1 Flu (Swine Flu)
• Action Steps for Parents of Children at Higher Risk for Flu Complications
• MDA’s H1N1 Resource Center
• Flu.gov
• H1N1 Flu Self-Evaluation
• CDC Says “Take 3” Actions To Fight The Flu

Sarah Kennedy had just given birth to her second daughter last December when her 16 month old daughter, Brielle, was diagnosed with spinal muscular atrophy (SMA) type II. Five days after hearing this devastating news, her husband Eric was deployed to Afghanistan with the Army. While they were apart, Eric and Sarah were forced into action to determine how best to care for Brielle and also to deal with the possibility that the new baby, Brooke, may also be affected by the disease. While Eric was deployed, Sarah tackled the heavy work of contacting doctors and therapists and creating a plan for Brielle’s treatment and on top of all that, decided to have Brooke tested. When Brooke also tested positive for SMA type II, she was enrolled in the “Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants with Spinal Muscular Atrophy” (or “STOP SMA”) study being conducted by Dr. Kathryn Swoboda at the University of Utah, with funding from FightSMA.

Brielle with Chad Knaus

The extended Kennedy Family became involved with the larger SMA community, participating in fundraisers and contacting their Congressional Representatives about the SMA Treatment Acceleration Act. Sarah’s sister in North Carolina, Christen, introduced her co-workers at Hendrick Motorsports to SMA. After meeting Brielle for the first time at a race in Michigan, (with Christen’s help), Chad Knaus, the crew chief for three-time NASCAR Sprint Cup Champion driver Jimmie Johnson, became interested in this little known disease and asked what he could do to help raise awareness.

Chad started by adding informational links about the disease to his personal website, but recently he has gone a step further. Chad will be sponsoring a hole at the upcoming Jimmie Johnson Foundation Annual Golf Tournament and has chosen to include the FightSMA logo on the sign posted at the sponsored hole. We thank Chad Knaus and the Jimmie Johnson Foundation for including FightSMA and for this wonderful opportunity to raise awareness of SMA.

Jeff Horton is a Dad.  But he’s not just any Dad — he’s a Fighter Dad.  After his daughter, Evie, was diagnosed with Spinal Muscular Atrophy (SMA), Jeff became proactive in getting the word out about the disease.  SMA, as you might know, is the number-one inherited killer of children under the age of two.

In April 2009, Jeff attended his first FightSMA Annual Conference in Washington, DC, and participated in the annual Capitol Hill Day.  You can see him to the right with Congressman Gregg Harper of Jeff’s home state of Mississippi.  In preparation, Jeff did some work “in the field” back home in order to gain the support of his Members of Congress.  He had one goal: to get all of his Members to sign on as cosponsors for the SMA Treatment Acceleration Act.

Jeff agreed to share his experience with FightSMA and our blog readers.

…Click here to read more.

The Virginian-Pilot newspaper printed a story Sunday about the family leading FightSMA’s chapter in Virginia Beach, Virginia. The article touched on aspects that many families affected by spinal muscular atrophy (SMA) face: the shock of the diagnosis, the struggle to fight the disease, and the loss of a child. But, the article also recognized the promise and hope brought about by research being done around the country and the need for the fight to continue.

The Saville Family openly speaks about their experience of learning their daughter Morgan had SMA, of raising awareness and funding, of seeking treatment, and of her death in 2005. They also discuss how their efforts to defeat SMA have been renewed following their new baby’s birth, diagnosis, and enrollment in Dr. Kathy Swoboda’s pre-symptomatic study, funded in part by FightSMA. Stacy Saville and her son, accompanied by Virginian-Pilot photographer Genevieve Ross, attended the FightSMA Annual Conference in April and traveled to Capitol Hill to advocate for the SMA Treatment Acceleration Act.

To read the full article, click here. Below is a lovely slide show that the paper also put together.

The 2009 version of “The Good Fight”, FightSMA’s Annual Spinal Muscular Atrophy Conference, wrapped up on Tuesday, April 28 and it was another successful year!

Here are a few of the highlights:

• 20 researchers and two additional graduate students from the National Institute of Neurological Disorders and Stroke (NINDS) were in attendance.

• Three of the attending scientists joined five additional doctors and healthcare professionals in an educational panel for attendees of the “Families and Friends Conference.”  This year’s panelists were Thomas Crawford, M.D., Tina Duong, MPT, Craig P. Eberson, M.D., Sally Evans, M.D., Sarah Feasel, MEd, RD, LD, CNSC, Mary Schroth, M.D., Kathy Swoboda, M.D., and Alex MacKenzie, M.D., Ph.D.

• On April 28, many of the families, friends and researchers descended on Capitol Hill to advocate for Spinal Muscular Atrophy and the SMA Treatment Acceleration Act, visiting the offices of more than 65 Congressional Representatives.  After a productive day, the SMA community was thrilled to learn that HR 2149, the SMA Treatment Acceleration Act, had been re-introduced in the House of Representatives.  FightSMA thanks all of our families, friends and researchers for kicking off the 2009 advocacy efforts in a big way!

• For the first year, FightSMA offered a webinar of the Families and Friends panels.  The webinar was a success, with 30 participants from 13 U.S. states and a total of four countries.  Those who utilized the webinar said the experience was great!

We’re thankful for the contributions of everyone who made this conference a success, and for our sponsors, who made it possible: PTC Therapeutics, Genzyme, Hill-Rom Company, ISIS Pharmaceuticals, Psychogenics, Permobil, The Medi-Kid Co., and Exceptional Parent Magazine.  A special “thank you” goes to Hill-Rom Company and Genzyme, which not only sponsored the event, but also sent representatives to attend the Families and Friends Conference!

FightSMA is providing funding for a new study called “Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants with Spinal Muscular Atrophy” or “STOP SMA” being conducted by the laboratory of Dr. Kathy Swoboda at University of Utah School of Medicine. The study will assess the safety, tolerability and potential efficacy of sodium phenylbutyrate (NaPB) in presymptomatic infants genetically confirmed to have SMA.

Sodium phenylbutyrate (NaPB) is a medicine that has been used for many years to treat patients with urea cycle disorders. Recent research suggests that NaPB may be able to prolong survival in animal models of motor-neuron disease. In addition, pilot data in human infants have suggested a possible benefit of early administration of NaPB. Since significant motor-neuron loss occurs in the first few weeks to months of life in the most severely affected infants, the earlier that NaPB treatment can be started, the greater the potential benefit in delaying onset and lessening severity of SMA symptoms.

For more information about this study, including eligibility criteria, and for links to other clinical trials, please visit the FightSMA website.

The Utah chapter of Fight SMA, Dylan’s Friends, alerted us an interesting article that ran recently in the Salt Lake Tribune.  At least one parent whose child is participating in a clinical trial for a treatment for spinal muscular atrophy type 2 is reporting what she believes is some success.  The trial, conducted by Salt Lake City neurologist Kathryn Swoboda, is looking into using the drugs carnitine and valproic acid to treat kids with the intermediate form of SMA.  Slated to wrap up in November, the study will help determine whether the drugs help salvage the nerves of children who have Type 2 SMA.

The parent quoted in the article said her son was stronger and has better mobility than before starting the medication.

Here’s an excerpt from the article…

For the past six months, all 90 children participating in the study have been on the drugs. During the first six months, however, half were on placebos. Neither the patients and their families nor Swoboda know which children - at six sites around the country - received the drugs in the first six months.

Valproic acid, approved by the Food and Drug Administration to treat epilepsy, psychiatric disorders, migraine headaches and pain, has also been shown to increase the protein critical to the health of motor neurons, or nerve cells in the spinal cord. The carnitine - a nutrient that helps the body turn fat into fuel - replaces that which is depleted by the valproic acid.

You can read the entire article on the Salt Lake Tribune website.