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.

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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.

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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.

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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.”

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‘The Amazing Race’ meets ‘Survivor’ in Lowell — and it’s all for charity

May 31, 2011

‘The Amazing Race’ meets ‘Survivor’ in Lowell — and it’s all for charity

LOWELL — Ever worn a bologna mask? Careened down a 200-foot Slip and Slide covered in chocolate syrup and soap bubbles? Kissed a dog’s um … hindquarters?

No? Well, then you’ve never participated in SmithFest.

“It is like a mix of The Amazing Race, Survivor and the craziest scavenger hunt you could ever imagine,” Fred Smith, 31, says of the massive, one-day extravaganza that last year raised $5,000 for Kids in Disability Sports.

This year, the event, scheduled for Oct. 1 at Lowell Memorial Auditorium, will benefit the Make-A-Wish Foundation of Massachusetts and Rhode Island, and Families of Spinal Muscular Atrophy.

The latter is in honor of Coby Kulis, the 5-month-old son of Dave and Lori Kulis of Methuen who died of the devastating motor neuron disease earlier his year. SMA is the number-one genetic killer of children under the age of 2, affecting 1 in every 6,000 babies.

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Cutting-Edge Research Saves Local Boy’s Life

May 24, 2011

Cutting-Edge Research Saves Local Boy’s Life

Danville Patch | May 22, 2011 | By Sarah Frank

In August, Danny McHale will turn 11, a milestone most doctors never thought he’d reach.

When Danny was just 5 ½ months old, his parents knew something was wrong. Danny wasn’t sitting up like other babies, and when he was put into a sitting position, he would flop right over.

Danny’s parents, Mary and Joe, took him to a neurologist, and after five minutes were told that he had Spinal Muscular Atrophy (SMA), Stage II, and to take him home and enjoy him while they could. They were told Danny was what doctors termed a “weak type II” because he did eventually sit with assistance as a baby.

They got the devastating news no parents want to hear—it was terminal. They were told their Danny had three to six months to live, and they should make sure to get him baptized.

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Families of Spinal Muscular Atrophy Announces Repligen Corporation Receives FDA Approval to Begin Phase I Safety Study

May 23, 2011

Families of Spinal Muscular Atrophy Announces Repligen Corporation Receives FDA Approval to Begin Phase I Safety Study

Press Release | May 19, 2011

Families of Spinal Muscular Atrophy announced today that Repligen Corporation has received approval from the U.S. Food and Drug Administration to commence a Phase I safety study in healthy volunteers for RG3039, formerly called Quinazoline495, which is being developed for Spinal Muscular Atrophy.

FSMA began the Quinazoline program in 2000 at the very initial stages of drug development, when risk is the highest. It was the very first industrial drug program for SMA ever conducted. FSMA fully funded the program with investments of $13 Million. The direction from FSMA provided the positive results necessary to license the program to Repligen Corporation and leverage larger funding for clinical development.

This clinical trial will be a double-blind, single ascending dose, Phase I study in healthy, adult volunteers to evaluate the pharmacokinetic and safety profile of RG3039 in up to 40 subjects. The study will be the first step in the clinical development of RG3039 as a potential treatment for SMA.

“It is very exciting after 10 years of hard work by FSMA leading this program, including a significant financial investment, for the drug candidate to be licensed to Repligen in 2009 and to now be able to announce the approval to advance into human clinical trials. This is a tremendous milestone for our community to have reached as we make progress toward a treatment for SMA,” stated Jill Jarecki, Ph.D. Research Director at FSMA. “We are very pleased to have received approval to initiate human clinical trials with RG3039,” stated Walter C. Herlihy, President and Chief Executive Officer of Repligen Corporation.

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Benefit concert for spinal muscular atrophy Saturday

May 23, 2011

Benefit concert for spinal muscular atrophy Saturday | May 18, 2011 | By Eric Louie

DANVILLE — Danny McHale was 6 months old when doctors diagnosed him with spinal muscular atrophy. His parents were told he probably wouldn’t live to his first birthday.

A decade later, the Danville boy is now a fifth-grader at Green Valley Elementary School. Among other interests, Danny is proud of the reigning champion San Francisco Giants and excited over the San Jose Sharks’ playoff run.

His parents and other families dealing with the disease, who on Saturday are holding their 11th annual fundraiser in hopes of finding a cure, said it’s because of children like Danny that they continue their efforts.

“If we stopped, they would think we’ve given up,” said his mom, Mary. “If you stop, the kids think there’s no hope.”

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Run founder still on move

May 17, 2011

Run founder still on move | May 17, 2011 | By Teresa Latchford

Louise Smith is still on the run.

Although the Newmarket native has moved up north, she remains involved in the organization of the local Rebecca Run, an event she founded a decade ago.

The first race at Fairy Lake raised $90,000 for spinal muscular atrophy (SMA) research to find a cure for the neuromuscular disease that leads to muscle degeneration and weakness. The progressive disease results in the inability to walk, crawl, hold one’s head up, swallow and, eventually, breathe.

Her vision, determination and the event’s impact on the community snagged her a 2011 Mothers of Distinction award.

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Chilliwack group hopes to raise spinal muscular atrophy awareness

April 17, 2011

Chilliwack group hopes to raise spinal muscular atrophy awareness

Chilliwack Progress | April 15, 2011 | By Katie Bartel

Spinal muscular atrophy is the number one genetic killer for babies, and yet there is no cure or treatment.

In fact, when children under the age of two are diagnosed, their parents are often told to take them home and love them for as long as they have them.

That’s not good enough for a group, now based in Chilliwack, fighting for both treatment and cure.

Families of SMA Canada, which were previously based in Manitoba, moved to Chilliwack when Susi Vander Wyk, a longtime board member, took on the non-profit organization’s presidency role.

Vander Wyk, whose 14-year-old daughter has SMA, is determined to increase the organization’s support for children, parents and families with SMA.

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