A clinical trial entitled “Phase I/II Trial of Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy Type I (CARNI-VAL Type I)” is currently recruiting type 1 SMA patients up to 9 months old. According to study description on ClinicalTrials.gov, investigators aim “to test safety and evaluate early treatment intervention with valproic acid and carnitine in moderating SMA symptoms of Type I infants.” The detailed description goes on to say:

Valproic acid (VPA) is a medicine that has been used for many years to treat patients with epilepsy. Recent research suggests that VPA may be able to upregulate expression of a backup copy of the SMN gene in SMA patient cell lines. In addition, some preliminary data suggests it may prolong survival in animal models of SMA. Because VPA can deplete carnitine in children with SMA Type I, carnitine is added to help prevent possible toxicity.

In this multi-center trial, we will evaluate the effects of VPA/carnitine on infants with SMA type I. A variety of outcome measures, including assessment of safety, will be performed at each study visit to follow the course of the disease. The protocol includes two baseline visits over a period of two weeks, two clinical assessments on medication at 3 and 6 months, and then 6 months additional followup via telephone. Total duration of the study will be approximately 12 months.

This is an international, multi-center trial with study sites at:

• Johns Hopkins University in Baltimore Maryland
• Children’s Hospital of Michigan in Detroit
• Ohio State University Medical Center in Columbus
• University of Utah/Primary Children’s Medical Center in Salt Lake City
• University of Wisconsin Children’s Hospital in Madison
• Hospital Sainte-Justine in Montreal, Quebec, Canada
• Klinikum der Universität zu Köln in Cologne, Germany

For more details about the clinical trial, including eligibility criteria and contact information, click here. For more information about clinical trials in general, click here.

A quick update on the fallout from PerezHilton.com posting about Fight SMA on Monday, May 26:

As we told you in this blog post, the folks at PerezHilton.com recently began posting information about what they call “worthwhile causes” on their site every week or so. On Monday, Perez included Fight SMA in that list. The site posted a link to fightsma.org, a description of our organization and spinal muscular atrophy, and showed a video that we posted on YouTube about SMA sufferer Billy Therriault and his family.

Since that posting on PerezHilton.com, nearly 30,000 people have viewed the Billy Therriault video. It’s gone positively viral, and we’re thrilled about it! Additionally, thousands of new visitors have found the Fight SMA website and learned about this horrible disease.

Here’s just a sampling of the dozens and dozens of comments that have been logged on the PerezHilton site:

Smile says –
I was shocked to see sma awareness on this site. I think it’s great.  My niece died from this at the age of two. It’s an awful disease!!!! Thanks Perez!
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Kelly says –
Perez,
Thank-you for posting this wonderful video about our very dear friend Billy. My son will be 3 in June and also has Type 1 SMA and we live in the same town as Billy. These kids are the TRUE news out there. This IS very important and this disease does NOT discriminate. ANY celebrity…any PERSON reading this website could be a carrier of the SMA gene. While my child and EVERY SMA child is a wonderful blessing…this is a hard life and for your readers who don’t think it is something they should pay attention to, they are very wrong. The more information about SMA the better and the sooner we find a cure the better. Bravo for posting about this disease that affects my child and many others out there.
—————————————-
Maggie says –
My eyes teared up watching that Video. I have two little boys of my own, and I feel blessed that they are healthy. To think that 1 out of every 40 people in the us carry the gene for sma is scary to think about. My heart goes out to the kids and families of the kids that suffer from sma….. I am going to donate we need to find a treatment.

If you haven’t seen the Billy Therriault video, you can view it on the front page of Fight SMA, or on YouTube. See the video everyone is talking about!!! If you haven’t seen the Perez Hilton post, you can find it here.

Columbia University TV ran a great story during their student-run newscast about Fighter Mom Friday.  The Fighter Mom Friday event was on May 9, 2008 in New York City.  It was a day-long workshop for mothers (and others) fighting against serious or life threatening conditions affecting their children.

You can view the Columbia University TV newscast by clicking here.  The FighterMom Friday story is the last one in the newscast.  To save time, you can fast forward.

We’re thrilled to announce that one of the most popular celebrity gossip blogs on the web today chose Fight SMA as one of its “worthwhile causes”. Recently PerezHilton.com began posting information about different charity sites each week. Taking the suggestion of Fight SMA Public Affairs Coordinator Caroline Gibson, the site included Fight SMA in its list. With that listing came a mention on the front page of the wildly popular site, a link back to FightSMA.org, and a blog post that included our most recent YouTube video (also seen on the front page of FightSMA.org).

Click here to read the post on PerezHilton.com!

We’re grateful to PerezHilton.com for telling more people about SMA and for the publicity for Fight SMA. Thank you!

 FB 14 [25:01m]: Play Now | Play in Popup | Download

This episode of Fighting Back Podcast is the first of several to be published in the coming days and weeks that will feature audio from the Fighter Mom Friday seminars. The Fighter Mom Friday workshop, held on May 9, 2008, was designed to educate, inform, and inspire attendees fighting against diseases or conditions affecting their children. The day-long event featured a number of speakers, and a number of them have agreed to allow us to present in podcast form the information they offered during the event.

Episode 14 of Fighting Back features audio from the seminar given by Nancy Jeffrey, senior editor and editor of the “Heroes” section of People Magazine. Ms. Jeffrey gave a wonderful talk on how her magazine handles feature stories (particularly those about diseases) and on how FighterMoms can use media relations in general.

Note: Ms. Jeffrey refers during her talk to a Powerpoint presentation. That presentation is available for download on the Fighter Mom Multimedia page.

Be sure to check back or subscribe to this podcast, so you don’t miss any of the upcoming episodes of Fighting Back!

To listen, you can use the Flash mp3 player above, load the Fighting Back Podcast Feed into your favorite feed reader, subscribe via iTunes or other podcast directories, or simply use the download link above to load the file onto your computer.

If you have feedback, a comment or question, or are interested in having Fighting Back tell your story, please contact us via the Fight SMA contact page. You can also leave a message in the form of a comment on this blog as well.

On May 17, 2008, the community of Midlothian, Virginia joined together to support the Wallace family and the fight to defeat spinal muscular atrophy (SMA). Kenny and Visha Wallace’s daughter Taylor was diagnosed in 2006, and last year, the first 5K in her honor was organized.

MidlothianExchange.com ran piece about the event called “5K boosts hopes for SMA research.” From the article:

Taylor Wallace is probably one of the most vivacious 2 ½ year olds you’ll have the pleasure of meeting. She chases her sisters and parents around their driveway, she plays and giggles, she’s gracious when asking for drawing utensils and she has a big ol’ smile on her face constantly. She also has little to no motor function in her legs because of spinal muscular atrophy, but she’s never let that slow her down and that’s exactly why she now has a 5K race named after her.

The second Taylor’s Hope 5K traced the roads and park around James River High School on Saturday with proceeds split between the Wallace family for medical expenses and FightSMA, an organization based in Richmond and dedicated to funding research for the disease.

“My best friend, her name’s Jen McQueeney, she just offered to do a 5K for us,” Taylor’s mother Valerie “Visha” Wallace said. “She works at a fitness club in the area and she’s managed a lot of races before.”

By Friday afternoon the race had already grown from last year’s turnout of 50 to 66 and still more registered on race day.

Besides money, the Wallace family hopes that the race raises awareness for a disease that is the leading inherited genetic killer of children under the age of 2 according to the organization Fight SMA.

“That’s one of the underlying benefits of this, to get the word out there,” Visha said. “I had never heard of it and it’s the number one inherited genetic killer of children 2 and under so you would think that you would know about it but everyone [who has it] is so little and it doesn’t pass into adulthood, so it isn’t well known.”

SMA causes weakness and wasting of the voluntary muscles in the arms and legs of infants and children. It is caused by an abnormal or missing survival motor neuron gene which is responsible for making the proteins that feed motor neurons. It can also affect the muscles that help in swallowing and breathing. Taylor was diagnosed with the disease in September 2006.

To read the full article and see pictures from the race, click here. Also, click here and select “Midlo 5 5.21.08″ to briefly meet Taylor and her dad Kenny. This year’s “Taylor’s Hope 5k for SMA,” which also included a kid’s run, drew more registrants than last and plans are already in the works for the third 5K to be held May 16, 2009.

Caring for a child with a disability or chronic condition, including spinal muscular atrophy, can be expensive and insurance does not cover all needs. According to the 2005/2006 National Survey of Children with Special Health Care Needs, 20% of families with a child with special health care needs pay $1,000 or more out-of-pocket in medical expenses per year for child.

The UnitedHealthcare Children’s Foundation (UHCCF) is doing something to help. UHCCF is offering grants to “provide financial relief for families who have children with medical needs not covered or not fully covered by their commercial health benefit plan,” according to the UHCCF website. The site also says:

Children who have medical needs are sometimes not insured comprehensively to provide coverage for all of their medical treatments. There are few places for families who have gaps in their commercial health benefit plan coverage to turn to for funding medically necessary services for their children. Children may go without necessary treatment, or, they receive the care and families assume a large amount of debt. The Foundation understands these needs and is willing to help fill this void.

To be eligible, applying families must meet a strict criteria. For all the details, visit http://www.uhccf.org.

An opinion article written by FightSMA co-founder Joe Slay appeared this week in the Richmond Times-Dispatch newspaper.  The op/ed used the Mother’s Day holiday to discuss the power of FighterMoms.

Read it here.

Not only was yesterday Mother’s Day, it’s also the time of year when most colleges are holding their graduation ceremonies. A story on the front page of the Chicago Tribune story yesterday celebrated both. Lucy Trevino, who has Spinal Muscular Atrophy Type 3 and is confined to a wheelchair, graduated this past weekend with an engineering degree. Her mother, Rosa, helped make it possible, by being right there with her in class, to assist with all of the things that SMA wouldn’t allow Lucy to do…

For the six years it took to get through one of the most rigorous programs in the College of Engineering, it was Rosa—a tad shy and always thinking two steps ahead—who got her daughter to every class, lab and study session. She knew which text and notebook to lay on Lucy’s desk. And she turned the pages when a heavy book tired Lucy’s hands.

For two or three hours, as Lucy absorbed lectures in calculus or thermodynamics or circuit analysis, Rosa sat not far away, just in case Lucy needed a sip of water or began choking.

To read the entire wonderful story, please visit the Chicago Tribune website. A video of Lucy and Rosa is also available on that page.

Along with her daughter Megan, FightSMA president Martha Slay is featured on the cover and inside the May issue of Richmond Parents Monthly. With this month’s edition focusing on Mother’s Day, the magazine highlights Martha’s efforts to raise research funding and awareness of Spinal Muscular Atrophy (SMA) and how this work lead to the creation of FightSMA’s Fighter Mom program.

From the article:

Twenty-two years ago, Martha Slay became a mom. And about 21 years ago, she became a Fighter Mom.

Although those weren’t the words she used at the time, that’s when her son Andrew was diagnosed with spinal muscular atrophy, or SMA, the number one genetic killer of babies in the U.S. Martha felt compelled to do something. That something was Andrew’s Buddies, an organization she and her husband Joe founded in 1991 to raise money for SMA research and spread awareness of the disease. Over the past 17 years, the organization has evolved into FightSMA, with chapters across the county that have raised more than $5 million for research.

FightSMA also supports parents whose children have been diagnosed with SMA, helping them becomes advocates—fighters—for their children.

About three years ago, recognizing that mothers of children with other diseases or difficulties were contacting FightSMA for advice and encouragement, the organization created the “Fighter Mom” program.

“We were blown away with what moms were sharing” about becoming activists, said Martha. That collective wisdom is gathered into the Fighter Mom manual. Meant to help parents harness their passion to protect their children, the book is full of nuts-and-bolts advice about raising funds, working with researchers and talking to congresspeople. More information and a link to order the free manual is at www.fightermom.org.

The read the entire article, click here.