Ski-a-thon celebrates Mitchell’s life

October 10, 2011

Ski-a-thon celebrates Mitchell’s life

The Daily Advance | October 8, 2011 | By Toby Tate

EURE — This year’s Haley Mitchell Ski-a-thon for Spinal Muscular Atrophy (SMA) is significant not only in the fact that it’s the last one, but also because it would have been Haley’s 14th birthday.

“It’s tough to be here this year without Haley,” said Valerie Mitchell, Haley’s mother. “Personally I just don’t have it in me to keep doing this big event.”

SMA is a deadly neuromuscular disease that deteriorates the spinal cord cells that control muscular function. Afflicted with SMA since birth, Haley was given only two years to live. She beat the odds, passing away on Oct. 26, 2010, just 2½ weeks after her 13th birthday.

Haley’s father Jeff Mitchell, who was waterskiing at Saturday’s event at Beaver Lake in Gates County, said he was happy with the turnout and the support they have received over the years. To date, the ski-a-thon has raised about $400,000 for Families of SMA, according to Mitchell.

Click HERE or on the image below to read more…

The Story and Purpose Behind Zane’s Run

September 22, 2011

The Story and Purpose Behind Zane’s Run

Malvern Patch | September 20, 2011 | By Pete Kennedy

Vodpod videos no longer available.

In 2009, Keith and Hillary Schmid lost their 5-month-old daughter, Zane, to type I Spinal Muscular Atrophy, a genetic disease that did not affect Zane’s twin sister Avery.

That year, the Schmids organized Zane’s Run, a 5K held at Sugartown Elementary School. The proceeds of the run helped supply informational packets and car seats to families facing the disease. The third annual Zane’s Run will take place Sept. 25 this year.

View the attached video to learn more about the Schmids’ story.

The Schmids hope to raise awareness and encourage people to be tested for SMA.

“Both parents have to be carriers of the disease to have a child with SMA,” Hillary Schmid said. “[Two carriers] have a 25 percent chance of having a child with SMA, a 50 percent chance of having a child be a carrier, and the other 25 percent chance that the child will be unaffected.”

Click HERE or on the image below to read more…

Families of SMA Awards $3 Million in New Spinal Muscular Atrophy Research Funding

July 21, 2011

Families of SMA Awards $3 Million in New Spinal Muscular Atrophy Research Funding

FSMA (Press Release) | July 19, 2011

Families of Spinal Muscular Atrophy (FSMA) is dedicated to creating a treatment and cure for Spinal Muscular Atrophy (SMA) by funding and advancing a comprehensive research program.  The new funding awards will be allocated into three distinct research areas: 1)Basic Research to understand the disease and provide seed ideas for drug making, 2)Drug Discovery to develop new SMA therapies, and 3)Clinical Research to provide the means to test new drugs effectively.

Click HERE or on the image below to read more…

Results From CARNI-VAL Clinical Trial Published: A Twelve Month Prospective, Open-label Trial of VPA and L-carnitine in Ambulatory Children with SMA

July 11, 2011

Results From CARNI-VAL Clinical Trial Published: A Twelve Month Prospective, Open-label Trial of VPA and L-carnitine in Ambulatory Children with Spinal Muscular Atrophy

FSMA | July 6, 2011

The second set of results from the Families of Spinal Muscular Atrophy funded CARNI-VAL clinical trial in ambulatory children published in PLoS ONE. The trial was completed by the Project Cure SMA Clinical Trial Network. The trial was registered at with identifier: NCT00227266.

Multiple lines of evidence, including treatment of patient-derived cell lines, animal models and open-label pilot human trials, have suggested that valproic acid (VPA) might have a therapeutic benefit in patients with spinal muscular atrophy. The SMA CARNIVAL TRIAL was a trial designed to evaluate the effectiveness of combined oral VPA and l-carnitine in two different groups of children with SMA. Group 1 of this trial targeted non-ambulatory SMA children 2-8 years of age, randomized to receive placebo or treatment for the first six months, then active treatment for an additional six months (Please see group 1 results in an earlier article in this issue of Compass). Group two of this study was a twelve month open-label trial of VPA and L-carnitine in ambulatory children with SMA. Group two of the study involved an ambulatory group of 33 genetically proven SMA “standers and walkers” (type 3), between the ages 3-17 years.

Participants underwent two initial baseline assessments of functional over a 4-6 week period and then were placed on VPA and L-carnitine for 12 months. Functional assessments were performed at baseline, 3, 6 and 12 months. Several primary functional assessments (outcomes / trial endpoints) were used, including safety, adverse event data, and efficacy. Efficacy (potential benefit) was measured by change in motor function at 6 and 12 months using the Modified Hammersmith Functional Motor Scale Extend (MHFMS-Extend), timed tests of gross motor function, and a fine motor module. Secondary outcome measures were tested at 6 and 12 month. These included maximum ulnar compound muscle action potential amplitudes (CMAP; see article in this issue of Compass describing what CMAP measures and indicates about motor neuron functionality), muscle strength by handheld dynamometry, pulmonary function measures, and patient and care-giver Pediatric Quality of Life Inventory scores.

Twenty-nine patients completed the 12 month open label study. VPA and carnitine were generally well tolerated, with only 1 patient developing a serious adverse event (dehydration) during the study. At least one adverse event occurred in 85% of all subjects but these were mild and similar to those seen in the group 1 study. The most common adverse events were pneumonia, gastrointestinal symptoms, fever and fractures; all except gastrointestinal symptoms were considered unlikely due to study medication. Excessive weight gain and abdominal pain were the most frequent drug-related adverse events. There was no significant change in any of the primary outcome measures at six or 12 months. There were some changes in secondary measurements. Some pulmonary function measures showed improvement at one year as expected with normal growth. CMAP amplitude did significantly improve at six and 12 months, suggesting a possible modest biologic effect directly on motor neurons, but that change was not clinically meaningful in improving participant function.

Click HERE or on the image below to read more…

Repligen Receives U.S. Fast Track Designation and European Orphan Medicinal Product Recommendation for RG3039 for Spinal Muscular Atrophy

June 23, 2011

Repligen Receives U.S. Fast Track Designation and European Orphan Medicinal Product Recommendation for RG3039 for Spinal Muscular Atrophy

Press Release | June 23, 2011

WALTHAM, MA – June 23, 2011 – Repligen Corporation (NASDAQ: RGEN) announced today that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation for RG3039, a potential treatment for Spinal Muscular Atrophy (SMA). Fast Track is a process designed to facilitate the development and expedite the review of drugs that treat serious diseases and fill an unmet medical need. Once a drug receives Fast Track designation, frequent communication between the FDA and the sponsor is encouraged throughout the development and review process. In addition, RG3039 has received a positive opinion for orphan medicinal product designation from the European Medicines Agency. European orphan medicinal product designation aims to encourage the development of drugs involved in the diagnosis, prevention or treatment of a life-threatening or chronically debilitating condition that affects no more than five in 10,000 persons in the European Union.

Click HERE or on the image below to read more…

Bellevue girl keeps on smiling while battling disorder

June 10, 2011

Bellevue girl keeps on smiling while battling disorder

Sandusky Register | June 7, 2011 | By Alissa Widman

Kylie Niedermier’s little brother loves to greet her with a kiss on the cheek.

Luke Niedermier, 2, gently approaches her chair, lingers for a few seconds, and then scurries away with a grin on his face.

“I don’t call him my little brother, I call him my ‘little bother,’” Kylie, 6, jokes. “He’s silly.”

She urgently calls for her mother, Heidi Niedermier, to wipe off his “slobber spot.” She can’t do it herself.

And if she wanted to, Kylie couldn’t chase after Luke to return the favor.

Kylie lives with Type I spinal muscular atrophy, a genetic disorder characterized by progressive loss of muscle control and weakness.

It’s left her almost completely paralyzed.

About one in 6,000 to 10,000 infants are born with the disorder each year, according to the SMA Foundation’s website.

The condition requires constant care.

Kylie is fed through a tube and is often hospitalized for respiratory treatments and intubation because of her weak lungs.

But if you ask Kylie, she’s just an ordinary girl, with a love of dress-up, puppies and especially the color purple. She can do a lot of things — read, sing with Luke, and identify any bird that flies by her window.

Click HERE or on the image below to read more…

Rockville Centre’s woman of distinction

June 1, 2011

Rockville Centre’s woman of distinction | June 2, 2011

Rockville Centre resident Debbie Cuevas was recently honored as one of the state Senate’s 2011 women of distinction. She joined other notable women at a reception on May 24 in the State Capitol building. Created in 1998, the Women of Distinction program honors outstanding women from across New York state who exemplify personal excellence, or whose professional achievements or acts of courage, selfless integrity or perseverance serve as an example to all New Yorkers.

“I am proud to honor Rockville Centre’s Debbie Cuevas as my 2011 Woman of Distinction,” said Senator Majority Leader Dean Skelos in a written statement. “Ms. Cuevas is mother, friend, nurse, caregiver, physical therapist, [spinal muscular atrophy] activist, and much more rolled into one. A true pioneer, Ms. Cuevas founded the Greater New York Chapter of Families of SMA in 2006, as a way to give back to her community. As [its] president [she] is instrumental in serving over 500 families who have been affected by Spinal Muscular Atrophy and continues to make a positive difference in the lives of others every day.”

Click HERE or on the image below to read more…