Science Daily published an article today about a promising new study at NIH’s National Institute of Neurological Disorders and Stroke (NINDS) on mice that might one day lead to a treatment for spinal muscular atrophy in humans. Here’s an excerpt:

“This study shows that treatment can be effective when started after the disease appears,” says Kenneth H. Fischbeck, M.D., of the NINDS, who helped lead the new study. The finding is important because most children with SMA are diagnosed after symptoms of the disease become obvious, he adds. The report appears in the February 22, 2007, advance online publication of The Journal of Clinical Investigation.

The new study, directed by Dr. Fischbeck’s colleague Charlotte J. Sumner, M.D., at NINDS, tested a drug called trichostatin A (TSA) that is in a class of drugs called histone deacetylase (HDAC) inhibitors. These drugs increase the activity of certain genes in the body.

Previous studies have shown that HDAC inhibitors can increase the amount of SMN2 expression in cultured cells and that treating pregnant mice with an HDAC inhibitor can increase the survival of their babies with SMA. Preliminary clinical trials are now underway to test several HDAC inhibitors in children who have SMA. However, the drugs in those clinical trials are weak HDAC inhibitors with other biological effects that may limit their usefulness for treating this disease. More importantly, none of the previous studies has demonstrated that HDAC inhibitors can extend survival when delivered after symptoms appeared. In the new study, the investigators tested TSA, which is a potent HDAC inhibitor, in cells from SMA patients and in a mouse model of SMA. They found that the drug increased the amount of SMN2 gene activity in both the cultured cells and the mouse model.

Next, the researchers gave daily injections of TSA to the SMA mice, starting when the mice were 5 days old. By that time, the mice showed clear symptoms of disease: they were significantly underweight and they had a markedly impaired righting reflex, or ability to get on their feet after being placed on their backs. The treated mice lived 19 percent longer, on average, than mice that did not receive TSA. About three-fourths of the treated mice had improved survival compared to control mice. The other fourth showed no improvement.

The treated mice had less weight loss and better righting reflexes, walking ability, and forelimb grip strength than mice that did not receive TSA. Examination showed that the TSA-treated mice also had larger neurons in the spinal cord, thicker muscle fibers, and more muscle mass than untreated mice. “This is a proof-of-concept experiment,” says Dr. Sumner. “It clearly demonstrates that this treatment can ameliorate the disease in mice.” While the results are exciting, there are still no studies that have proven the effectiveness of HDAC inhibitors in humans, she cautions.

To read the entire article, click here.

To read the entire study report, click here.

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A grandmother is fighting a New Jersey school district to allow her granddaughter, Desiree, who has spinal muscular atrophy, to use her walker while at school. The family says that time using the walker instead of the girl’s wheelchair is recommended by doctors. The school district says that “the walker is not necessary for Desiree to make meaningful educational progress.”

The following is a copy of the report by John Slattery of New York’s WCBS-TV.

Feb 20, 2007 8:13 pm US/Eastern

School Bans Disabled Child’s Walker

(CBS) FRANKLIN LAKES, N.J. The family of 7-year-old first grader Desiree Sheehy is at odds with New Jersey’s Franklin Lakes school district, arguing over whether the child can use a special walker at High Mountain Road School. The child says all she wants is to use her walker at school. “I really like walking in it,” she said at her home.

Sheehy suffers from a congenital condition affecting nerve cells called “spinal muscular atrophy” or SMA. About one in 6,000 babies is affected by the disease. It requires her to stand as much as possible or she will lose bone density and suffer joint problems.

Linda Sheehy, Desiree’s grandmother, who has joint custody of the child with the girl’s father, Kevin Sheehy, cites doctors’ recomendations which say it’s better for Desiree to spend less time in her wheelchair and more time in a special walker. The family believes that proper developement requires her to use the walker for a portion of the day while she’s at school, but the district says she can’t

The Franklin Lakes’ Supervisor of Special Services, John A Caliso, rejected the family’s request for the walker to be used at school, saying the district “has determined the walker is not necessary for Desiree to make meaningful educational progress.”

The family believes the goal is both educational and physical progress, and the therapy the school offers is not enough.

“They increased her physical therapy sessions from twice a week to five sessions a week, and said with their program they were doing the same as the walker,” says Linda, who has decided to fight the battle without a lawyer for now.

To get in and out of the walker, Desiree needs help, but the school already provides a full time aide. “They should say yes to the walker, and then the fight would be over,” she says.

Desiree’s family has filed a complaint against the district, and will ask an administrative law judge to have the district reconsider it’s decision. The State of New Jersey is also investigating the Sheehys’ complaint and is expected to issue a report by April.

To see the footage from John Slattery’s report, click here.

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The National Institutes for Health has released the funding estimates for 2007 and 2008, broken down by disease, condition, and area of research. Funding for spinal muscular atrophy (SMA) remains at $15 million for 2007 and 2008. This is the same level of funding SMA received in 2005 and 2006, despite the NIH Office of Budget predicting that NIH will need to increase its spending to maintain the same level of research activity.

Click here to view the table of NIH funding estimates.

Click here to read the report from the NIH Office of Budget.

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The February 22nd issue of Forbes magazine has an article about an infant’s genetic mutation and how scientists are now seeing this mutation as a possible help for muscular dystrophy patients.

In 2000, a child was born with larger than normal muscles. Doctors confirmed the the boy had a genetic mutation discovered by researchers at Johns Hopkins University a few years earlier. The mutation blocks the gene responsible for myostatin which is a protein that slows muscle growth. Less myostatin equals larger muscles.

Researchers are now working to design drugs that will block myostatins and hope that such drugs would help patients such as those with Duchenne muscular dystrophy. Pharmaceutical company Wyeth developed an experimental antibody drug that increased the muscles of mice in 2002 and a trial involving adults with muscular dystrophy is expected to produce results soon.

But researchers warn that there is still lots of room for failure. The blocking drugs could produce adverse side effects. There are a variety of these proteins and finding the correct one or combination to manipulate will take time. And, the effects of myostatin manipulation may be the greatest only in fetal development.

To read the full article, click here and login. (Membership to Forbes.com is free)

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As Birmingham’s SMAsquerade approaches, the local Fox station interviewed Brandon and Patti Kemp. They spoke about their daughter, Madisyn, who has spinal muscular atrophy (SMA). The Kemp family actively raises money to fund research by supporting the Birmingham SMAsquerade and by organizing the annual Madisyn Kemp Golf Tournament.

Follow this link and click on the video to see the interview and meet the Kemp family.

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Despite the questionable weather in Washington D.C. the National Advisory Neurological Disorders and Stroke Council (NANDSC) is still scheduled to meet February 15-16, 2007.

The NANDSC holds three regular meetings each year (February, May, and September) and each lasts about a day and a half. Each meeting has a portion open to the public, with the reminder of the meeting closed to the public as the council reviews grant applications. The National Institute of Neurological Disorders and Stroke (NINDS) cannot award a research grant unless the application has received the approval of the NANDSC. In addition to reviewing applications, one of the NANDSC’s main roles is “to advise the Institute on policy and procedures affecting the extramural research programs.” The SMA Project was established by NINDS to help advance spinal muscular atrophy research.

Click here to read the meeting’s agenda.

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FightSMA has two exciting events taking place this weekend. Both Birmingham and Atlanta will hold FightSMA’s signature fundraisers: SMAsquerade. Birmingham’s event will be held at Ted’s Garage, a 1920’s warehouse with classic and vintage cars on display, and guests will enjoy the music of the band Laval Lamp. Atlanta’s SMAsquerade will be help at The Trolley Barn, the restored home of Atlanta’s first electric street railway line, and guests will enjoy the sounds of the band Livin’ Large. Both SMAsquerades will take place Saturday, February 17th and will have silent auctions.

A SMAsquerade is just one of the weapons FightSMA has in its arsenal as the battle against spinal muscular atrophy (SMA) wages. Funds raised by SMAsquerades around the country go to further SMA research towards a treatment and a cure.

To learn more about Birmingham’s SMAsquerade, click here.

To learn more about Atlanta’s SMAsquerade, click here.

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Recently, a number of journal articles about Spinal Muscular Atrophy have been published. Below are links to the abstracts of a few of these articles, including some from researchers who have been funded by FightSMA. A subscription to the publishing journal is required to read the full text of the articles, but the abstracts will help you decide if you are interested in reading more.

Recent Advances in Respiratory Care for Neuromuscular Disease
by Anita K. Simonds
Chest. 2006; 130:1879-1886.
Click here to read the abstract

Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis.
by Veronica Setola, Mineko Terao, Denise Locatelli, Stefania Bassanini, Enrico Garattini, and Giorgio Battaglia
Proceedings of the National Academy of Sciences. 2007; 104:1959-1964.
Click here to read the abstract

Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA.
by L. R. Simard, M-C Bélanger, S. Morissette, M. Wride, T. W. Prior, and K. J. Swoboda
Neurology. 2007; 68:451-456.
Click here to read the abstract

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Introduced multiple times by Senator Hillary Rodham Clinton, the Lifespan Respite Care Act of 2006 was approved by both the U.S. House of Representatives and Senate in December of 2006. In her statements to the Senate, Senator Clinton said, “Family caregivers provide 80 percent of all long term care in the United States. But…you don’t get real financial help unless you put your loved one in a nursing home. There is something wrong with that.” Supported in Congress by Senators such as Clinton, Warner, and Snowe, and by Representatives such as Ferguson and Langevin, the Lifespan Respite Care Act of 2006 provides almost $300 million over five years to increase access to respite care services for caregivers of family members with special needs conditions. In the words of Senator Clinton, “I’m grateful that we’re going to be passing this legislation and giving some assistance to these courageous men and women, these parents, these children, these grandparents, these spouses.”

Click here to read Senator Clinton’s announcement of the Act passing

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While covering the musical events of the 8th Annual Hannah’s Buddies Charity Classic to benefit spinal muscular atrophy (SMA) research, including performances by John Bell of Widespread Panic, Bobby Lee Rodgers and The CodeTalkers, Colonel Bruce Hampton and the Aquarium Rescue Unit, and Outformation, a commentator for MoBoogie.net sat down for a conversation with Hannah, the namesake of the event.

Click here to read the interview

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