The year 2007 has been successful for the SMA community on Capitol Hill, most notably with the introduction of the SMA Treatment Acceleration Act in both the U.S. House of Representatives and U.S. Senate. This legislation (H.R. 3334/S. 2042) would provide increased federal support for spinal muscular atrophy (SMA) research and would strengthen a nationwide clinical trials network focused on approval of treatments for SMA. On behalf of our organizations and government relations teams, we are extremely grateful to the many individuals who have reached out to their Members of Congress to gain support for this important legislation. The list of cosponsors is growing each week! As it stands today, 30 Members of the House of Representatives and 10 Senators have signed on. Click here to see the current list. This is a very good early showing of support for this legislation and we are confident the ranks of supporters will grow even more in the New Year.

Again, our heartfelt thanks to each of you who have joined our efforts to advance the cause of SMA in Washington.

Fight SMA released some big news this week. The recent SMAsquerade auction fundraiser in Richmond netted a total of more than $150,000 for spinal muscular atrophy research! Obviously, we’re very proud and would like to thank not only the donors, but also the sponsors of the event. The auction’s presenting sponsor was SunTrust, and the live auction sponsor was Dominion.

The items auctioned this year all fit the theme “Make Tracks.” Event organizers encouraged those in attendance at the event to make their mark by helping to cure SMA, and the attendees responded. The winning bids on several items reached near record levels. The highest bids came on these three items:

• Whale Tracking (Winning Bid: $12,000) - An eight-day whale-watching adventure in the Gulf of California, accompanied by National Geographic Senior Editor Don Belt and National Geographic Photographer Annie Belt.

• Two Days at the Track (Winning Bid: $10,000) - Corporate box seats plus accommodations for the 134th running of the Kentucky Derby, as well as Kentucky Oaks, which is run the day before.

• Tracking Flight (Winning Bid: $6,000) - A three-day hunt for four in St. Charles, Arkansas with Duck Hunt Guides, Inc., including lodging, hunts, meals and licenses.

To help Fight SMA reach its goal of finding a treatment or cure for spinal muscular atrophy, please visit http://www.fightsma.org and click on “donate.”

Read the entire news release about the announcement on PRWeb.

Dr. John Bach (left), Professor of Physical Medicine and Rehabilitation and Professor of Neurosciences at UMDNJ-New Jersey Medical School, is currently conducting a FightSMA funded study entitled “Autonomic Dysfunction in Childhood Onset Spinal Muscular Atrophy.” While autonomic dysfunction in spinal muscular atrophy (SMA) patients has been recognized in clinical practice, it has not been officially studied or reported in literature. Dr. Bach and FightSMA hope to expand the understanding of the relationship between SMA and autonomic dysfunction with this study.

According to Dr. Bach, “about 20% of children with SMA type 1 and 2 have slowing of heart rate below 60 beats per minute. At times the slowing is to below 40 beats per minute and results in loss of consciousness.” Dr. Bach goes on to explain that in some cases children have died suddenly because their heart rates dropped to zero. Heart rate is largely controlled by the “autonomic nervous system” (ANS) which is divided into two systems, the sympathetic and the parasympathetic. The sympathetic part causes the heart to speed up and the parasympathetic causes the heart to slow down. An imbalance between the two parts can result in a heart arrhythmia (a disturbance in the rhythm of the heartbeat) and can cause the heart to stop. Dr. Bach explains:

“Slowing, what we call “bradycardias”, can be a reaction to the heart “racing”, a “tachycardia”. Thus, anything that causes the heart rate to speed up like a fever, mucus plug, or excitement, that is, sympathetic stimulation, might result in a reactive bradycardia. Bradycardias can also occur without a tachycardia. In this case it would be from too little sympathetic activity to counter balance parasympathetic stimulation…The purpose of our study is to determine the sympathetic-parasympathetic balance of the innervations of the heart to help us figure this out.”

Using noninvasive equipment to record heart rate variability and respirations, the study compares the ANS activity of 100 SMA patients to the ANS of 100 control subjects of matching age and gender. Analysis of the data gathered may help identify autonomic dysfunction and determine treatment strategies. Dr. Bach continues to receive SMA patients for this study at his office in New Jersey.

For more information, please contact:
John R. Bach, MD
Physical Medicine and Rehabilitation
University of Medicine & Dentistry of New Jersey
90 Bergen Street, DOC 3100
Newark NJ 07103
Practice Phone: 973-972-2802
Email: bachjr@umdnj.edu
Website: www.doctorbach.com

There was a wonderful article this week in the Lexington (KY) Herald-Leader about a little girl with spinal muscular atrophy who wanted to keep attending preschool, and the technology that allowed it to happen.

Dani Pruitt, who has SMA Type 1 and will turn four years old in the spring, went to preschool at Rosa Parks Elementary for three days each week until recently. It had to come to an end when her mother decided she wasn’t strong enough to survive the viruses that are usually passed around a classroom in the fall and winter. But, Dani wanted to keep going to school. The solution was to place a laptop and a webcam in both the classroom and in Dani’s bedroom. The article picks up the story from there…

Dani insists on participating in all aspects of school. When preschoolers in the Rosa Parks classroom are charged with washing their hands at the sink, Beth Pruitt thinks her daughter can use hand sanitizer.

But Dani presses her.

“With soap and water,” she says. Her mother carries her to the sink.

When it comes time to dance to the Wiggle song, Dani sings along in a whisper as her mother moves her arms, her legs, her fingers so she can make the same motions as her classmates.

“I can’t say enough about Rosa Parks,” says Beth Pruitt. “They look for ways of helping without us asking.”

Dani has outlived the predictions of all of her doctors. Most children with Type I SMA don’t live past two years old. Dani’s mother, Beth, says she doesn’t pay attention to the prognosis anymore.

You can read the entire article here. There’s also a great slideshow of Dani enjoying school, which you can find here.

Scientists in Japan and the United States recently announced a scientific breakthrough that could induce human skin cells to act as embryonic stem cells do. From the New York Times November 27th article “After Stem-Cell Breakthrough, the Work Begins:”

Biologists were electrified on Tuesday, when scientists in Japan and Wisconsin reported that they could turn human skin cells into cells that behave like embryonic stem cells, able to grow indefinitely and to potentially turn into any type of tissue in the body.

The discovery, if it holds up, would decisively solve the raw material problem. It should provide an unlimited supply of stem cells without the ethically controversial embryo destruction and the restrictions on federal financing that have impeded work on human embryonic cells.

But scientists still face the challenge of taking that abundant raw material and turning it into useful medical treatments, like replacement tissue for damaged hearts and brains. And that challenge will be roughly as daunting for the new cells as it has been for the embryonic stem cells.

“Even though we have this nice new sources of cells, it doesn’t solve all the downstream problems of getting them into the body in useful form,” said James A. Thomson of the University of Wisconsin, who led one of the teams that developed the stem cell substitutes. Dr. Thomson was also the first to isolate human embryonic stem cells, about a decade ago.

Still, the new discovery should accelerate progress — if only because with the ethical issues seemingly out of the way, more scientists and money will be drawn to the field.

To read the whole article, click here.

Dr. Douglas Kerr, Associate Professor of Neurology, Molecular Microbiology and Immunology at Johns Hopkins and member of the FightSMA Scientific Advisory Board shares his thoughts on this important development:

I think the iPS studies are tremendously exciting. These are important studies for several reasons. First, it may make for a fairly quick way to derive cells from patients with genetic diseases and to create in vitro models of these diseases by differentiating them into relevant cell types. We could learn a lot mechanistically about these diseases and we could initiate high throughput screening to develop new treatments. Secondly, this could ultimately mean we could autologously transplant patients by making pluripotent stem cells from a patient’s own somatic cells, differentiating those cells into cell damaged by disease and transplanting them. Genetically identical, no risk of infection or immune rejection. But even if this new science is replicated and widely achievable, it is a decade or more to first in human. The ‘cocktail’ for reprogramming skin cells involves viral delivery of 4 genes, including oncogenes given by viral delivery. So, there are several things to worry about. 1) skin cells and indeed all somatic cells have gone through many cell doublings by the time they terminally differentiate. If you de-differentiate them and ask them to be ES-like cells, they go through many more cell doublings in cell culture. Each cell doubling raises the chance of mutations, telomere shortening and the other cellular features of old age. 2) What if the oncogenes used to reprogram the stem cells cannot be controlled and cause cancer? Pluripotency in normal ES cells exists within a developmental program and is regulatable/controllable. Pluriptency in these artificial ES-like cells is likely to be not regulatable and especially with the problems noted above, cancers more likely. 3) the clinical hurdles required for cell therapies with 4 viral vector gene therapies to make these cells pluripotent is going to be far more complex than normal ES cells.

Notice Number: NOT-FD-08-001
Release Date: September 24, 2007
Issued by: Food and Drug Administration/Office of Orphan Products Development and Food and Drug Administration

The Food and Drug Administration’s (FDA) Office of Orphan Products Development (OOPD) is pleased to announce the availability of funds for fiscal year (FY) 2009 and FY 2010 grant awards to support clinical trials on the safety and effectiveness of products for rare diseases and conditions. Contingent on availability of FY 2009 and FY 2010 funds, it is anticipated that $14.2 million will be available for new applications, competing awards, and non competing continuation awards. For FY 2009, the application receipt date is February 6, 2008, and for FY 2010, the application receipt date is February 4, 2009.

These studies are intended to provide acceptable data to the FDA that will substantially contribute to the approval of new products, or new indications for already marketed products. In the FDA OOPD grants program, products for rare diseases and conditions (orphan products) are defined as drugs, biologics, medical devices, and medical foods indicated to treat or diagnose a rare disease or condition with a prevalence of fewer than 200,000 people in the United States.

To read the complete notice, click here.

**********************************

Participating Organizations: Food and Drug Administration (FDA)

Components of Participating Organizations: Office of Orphan Products Development (OPD)

Title: Clinical Studies of Safety and Effectiveness of Orphan Products; Research Project Grant (R01)

Request for Application (RFA) Number: RFA-FD-08-001

Opening Date: January 6, 2008 (Earliest date an application may be submitted to Grants.gov)

Application Submission/Receipt Date(s): February 6, 2008; February 4, 2009

Expiration Date: February 5, 2009

For more information, click here. For additional funding opportunities from the National Institutes of Health, click here.

and

present

Fighter Mom™ Friday
May 9, 2008
8:00 am - 5:00 pm
New York Palace Hotel
New York, New York

FightSMA and the Toy Industry Foundation are pleased to announce Fighter Mom™ Friday, May 9, 2008. The inaugural, day-long workshop will take place at the breathtaking New York Palace Hotel in Midtown Manhattan.

Fighter Mom™ Friday is a celebration for all mothers (and others), whose children face any kind of disease, challenge or disability. It will be a day that provides a special service to moms and other caregivers who need tools to become truly proactive for their children. To kick off Mother’s Day weekend, FightSMA and the Toy Industry Foundation are honored to provide these special women with a day of their very own — a day to honor the Fighter Mom™. This day will be celebrated year after year.

The workshop will be a fun, educational and productive day. FightSMA and the Toy Industry Foundation have collaborated to provide a dynamic agenda for the day, including presentations, a celebrity guest speaker, panelists and toy demonstrations.

Please check here for periodic updates on this exciting event!

The Richmond Chapter of FightSMA was recently highlighted for its 2007 gala SMAsquerade: Make Tracks. The Style Weekly article, Belles of the Ball, discusses the time, effort, and skills that go into special event planning and profiled “the women behind some of Richmond’s big galas for bigger causes,” including FightSMA president Martha Slay. FightSMA’s SMAsquerade raises funding for research into a treatment and cure for Spinal Muscular Atrophy.

There are careers and there are callings. Some women combine the two, and others juggle them, along with families and a host of interests. Whatever the case, to say such women multitask is an understatement. Ask anyone who’s served on a fundraising committee for a nonprofit or lived with someone who has.

Planning for a gala, which often begins as soon as the last event ends, involves countless meetings about everything from budgets to bands, sponsors to spritzers. And there’s the matter of theme. It might be built-in or maybe it’s born each year anew. Deciding how it’s conveyed can be a breakthrough moment.

Big-ticket events that take place annually and raise tens, even hundreds, of thousands of dollars for local charities and institutions easily take on a life of their own. And while the heart of the event is the cause itself, its backbone is the organizer, whether it’s a volunteer or a CEO.

To read the full article, click here.

Hannah’s Buddies, the Tampa, FL chapter of Fight SMA, has set the date for the 2008 Hannah’s Buddies Charity Golf Classic. The ninth annual event is a fundraiser for spinal muscular atrophy research, and will take place on February 8 and 9 in Orlando, FL. It features a golf tournament during the day, a silent auction in the evening, and a concert at night. Already lined up for the concert is John Bell, lead singer of the band Widespread Panic (seen to the left with his goddaughter, Hannah from Hannah’s Buddies). Other musical acts are to be announced.

Here’s the preliminary schedule for the day:

February 8, 2008 at 12:30 p.m. - Shotgun start for the golf tournament at the Grand Cypress Golf Resort in Orlando, FL

February 9, 2008 at 4:30 p.m. - Dinner and silent auction at the House of Blues in Orlando

February 9, 2008 at 8:00 p.m. - John Bell and Friends Benefit Bash

Tickets for the concert are available at the House of Blues.

Check the Hannah’s Buddies chapter page for more details, coming soon!