Families of SMA Awards New Funding to Advance a CNS Delivered Gene Therapy for Spinal Muscular Atrophy

May 5, 2012

Families of SMA Awards New Funding to Advance a CNS Delivered Gene Therapy for Spinal Muscular Atrophy

Press Release | May 3, 2012

Families of SMA is pleased to announce the award of up to $750,000 for an important new grant to Dr. Brian Kaspar at Nationwide Children’s Hospital. This award will support preclinical development of a CNS-delivered Gene Therapy for Spinal Muscular Atrophy. With funding from FSMA, Dr. Kaspar’s team will initiate the studies needed for an Investigational New Drug (IND) application for this therapy to the Food and Drug Administration (FDA).

“Families of SMA is excited to be awarding new goal-directed drug discovery funding for this gene therapy program. This work follows up on a 2010 grant from FSMA to test the age-dependence in primates of this gene therapy. The new funding will allow us to accomplish several key goals simultaneously”, says Jill Jarecki, PhD, FSMA Research Director. “First, it will allow us to advance this very promising new therapy for SMA towards human clinical trials. Second, it will allow FSMA to fund multiple SMA drug programs concurrently, which have different approaches. Doing this will increase our community’s chances of successfully finding a treatment for SMA.”

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Repligen Reports Positive Results From Phase 1 Clinical Trial for Spinal Muscular Atrophy (SMA)

April 25, 2012

Repligen Reports Positive Results From Phase 1 Clinical Trial for Spinal Muscular Atrophy (SMA)

Press Release | April 25, 2012

Repligen Corporation (NASD: RGEN) today announced positive results from a Phase 1 study to evaluate the pharmacokinetic (PK) and safety profile of RG3039, a novel small molecule drug candidate for the potential treatment of spinal muscular atrophy (SMA). SMA is a inherited neurodegenerative disease in which symptoms of progressive damage to motor neurons including loss of muscle function typically appear very early in life and often progress to severe physical disability and early loss of life. The Phase 1 trial was a blinded, ascending, single dose study of RG3039 administered to 32 healthy volunteers. The study results demonstrate that RG3039 was well tolerated at all doses administered, with no serious adverse events reported. The data also showed evidence of a dose-related drug response resulting in 90% inhibition of the target enzyme. These outcomes may help to establish appropriate RG3039 dosing regimens for future studies, including potential efficacy studies in SMA patients.

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Ella’s Story: ‘I’m Not Here to Save Her. I’m Here to Take Care of Her’

February 2, 2012

Ella’s Story: ‘I’m Not Here to Save Her. I’m Here to Take Care of Her’

ElmhurstPatch | February 2, 2012 | By Karen Chadra

Ella Casten is a smart, inquisitive little girl with a smile that will melt your heart.

In most ways, she is a typical 1 1/2-year-old. She loves her dog, her toys, and her brother and sister, Henry and Ava. She speaks in cute toddler language and wants to do things all by herself.

But she can’t. Her muscles won’t let her. Ella has a rare, genetic neuromuscular disease called spinal muscular atrophy, for which there is no treatment or cure. Her motor neurons are dying, causing her to lose muscle function. She first lost the use of her legs, and now she has trouble reaching and lifting even small toys.

Ella was born on June 10, 2010. She started out seemingly healthy, hitting all the normal developmental milestones in her first year. She began to stand and take a few steps.

Just five months ago, all that changed.

Her parents, Lincoln Elementary School teacher Michael Casten, and Lindsay Casten, a former Lincoln teacher, began to try to unravel the mystery with the help of pediatricians and therapies. An Internet search revealed what they had hoped was not the answer.

“I’ll never forget that night,” Lindsay said. “I Googled hypotonia (poor muscle tone) and hand tremors and one of the things that came up was SMA. Of all the possibilities we had been told, we didn’t want it to be that.”

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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.

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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 clinicaltrials.gov 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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Doing his part in search of a cure

May 7, 2011

Doing his part in search of a cure

When Lemont grandfather Ken Emerson found out his 4-year-old grandson was diagnosed with spinal muscular atrophy, he knew he had to do something. He figured he would do what he does best — play golf.

On May 21, the Lemont man will host the “Tee off with the Drive to Cure SMA in Honor of Ryan” in Lemont to benefit young Ryan Manfre, who was diagnosed with SMA when he was just 1 year old. The rare disease has inspired Emerson to use his hobby to find a cure.

“I am interested in helping to raise money for research,” Emerson said. “It’s just as important to bring awareness to this disease to the world because I feel strongly about it.”

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Raising awareness for Spinal Muscular Atrophy at Aquin

March 16, 2011

Raising awareness for Spinal Muscular Atrophy at Aquin

JournalStandard.com | March 15, 2011 | By Hilary Matheson

The Aquin chapter of Highland Servant Leaders is using this week to tell classmates about disability awareness.
Nine Aquin students have researched various disabilities and will give presentations throughout the week. Many students chose disabilities that have touched their lives.

Senior Elizabeth Bald researched Spinal Muscular Atrophy (SMA), a rare genetic disease. Bald invited the Murray family: parents Jodi and Aquin alum Steve; and their sons, Andrew, 11, and Patrick, 7, of Winnebago, to talk about SMA. Andrew Murray is a Winnebago Middle School fifth-grader and his favorite subject is physical education. Andrew also has SMA.

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