There’s a new page in the Fight SMA Spinal Muscular Atrophy Guidebook that anyone who is interested in orphan disease research should review.  The “Guidebook” is a one-stop compilation of information on SMA.  Parents of newly-diagnosed children, and even those who have known about spinal muscular atrophy for some time, can use it to answer the questions they might have about SMA.

The new page in the Guidebook is the Directory of Diseases Benefiting from SMA Research.  It’s a list of the more than 20 diseases that receive “collateral benefit” from breakthroughs in the search for a cure for SMA.  The list includes well-known disorders such as Parkinson’s and Alzheimers, as well as those that are lesser-known, such as Batten Disease and Niemann-Pick Disease.  Included in the directory are links to websites where information about the individual diseases can be found.  Fight SMA is inviting anyone with websites about these diseases to submit their sites for possible inclusion in the directory.

A “fighter mom” is a mother with a purpose. She is organized to fight a disease or disorder that’s affecting her child, by raising money for research, raising awareness, and making sure everyone knows there’s a horrible disease that needs our attention. She is a disease advocate. The FighterMom™ program salutes these special moms this Mother’s Day Weekend, and is now providing them a place where they can easily find one another. The program, developed by international nonprofit organization Fight SMA, is relaunching this Mother’s Day weekend as part of an expansion from an informational resource to a community.

FighterMom is the brainchild of Joe and Martha Slay, who founded Fight SMA in 1991 after their son, Andrew, was diagnosed with spinal muscular atrophy (SMA). While theirs is a specific fight against the leading genetic killer of children under two, they believe that the lessons they’ve learned are lessons that can be taught to people fighting other diseases.

As part of the relaunch, the FighterMom website has been redesigned, not only to better present information but also to include the FighterMom Community. The new community includes message boards, the FighterMom Blog, the ability for visitors to easily create their own blogs, and the Fighting Back Podcast (subscribe to the Fighting Back Podcast Feed), which features inspirational stories about people and families fighting serious or incurable diseases.

“Isolation is one of the biggest problems facing FighterMoms, partly because in many cases you really are one of very few people dealing with your disease,” said Mrs. Slay, who is president of Fight SMA. “With this relaunch, we want to create a place with so many like-minded people that visitors can’t help but realize there are others out there just like them.”

The new site is also more organized, and provides a place for visitors to learn about companies like Children’s Wear Digest that support the FighterMom program.

One thing that hasn’t changed is the FighterMom Manual. Written by Joe and Martha Slay, it costs individuals only the price of shipping. The manual includes everything they can teach about how they built Fight SMA. New or veteran FighterMoms can use it to educate themselves on topics such as how to organize and strategies to get attention for your disease.

“People who are organizing to fight a disease run into many of the same problems, even though their situations may be vastly different,” said Mr. Slay. “We believe we can provide a great deal of help to them, and by creating the FighterMom Community we can also provide a place where parents of sick children can learn from and support each other.”

To learn more about the FighterMom program, please go to www.fightsma.org/fightermom!

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.