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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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1 Comment | FSMA, Illinois, Press Release, Research, United States | Tagged: FSMA, illinois, press release, research, united states | Permalink
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Scientists measure communication between stem cell-derived motor neurons and muscle cells

May 5, 2012

Scientists measure communication between stem cell-derived motor neurons and muscle cells

Neuroscience | May 5, 2012

In an effort to identify the underlying causes of neurological disorders that impair motor functions such as walking and breathing, UCLA researchers have developed a novel system to measure the communication between stem cell-derived motor neurons and muscle cells in a Petri dish.

The study provides an important proof of principle that functional motor circuits can be created outside of the body using stem cell-derived neurons and muscle cells, and that the level of communication, or synaptic activity, between the cells could be accurately measured by stimulating motor neurons with an electrode and then measuring the transfer of electrical activity into the muscle cells to which the motor neurons are connected.

When motor neurons are stimulated, they release neurotransmitters that depolarize the membranes of muscle cells, allowing the entry of calcium and other ions that cause them to contract. By measuring the strength of this activity, one can get a good estimation of the overall health of motor neurons. That estimation could shed light on a variety of neurodegenerative diseases such as spinal muscular atrophy and amyotrophic lateral sclerosis, or Lou Gehrig’s disease, in which the communication between motor neurons and muscle cells is thought to unravel, said study senior author Bennett G. Novitch, an assistant professor of neurobiology and a scientist with the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA.

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Devastating disease provides insight into development and death of motor neurons

April 30, 2012

Devastating disease provides insight into development and death of motor neurons

University of California, Los Angeles | April 29, 2012 | By Mark Wheeler

Researchers at UCLA have been searching for the cause of a rare disease that virtually no one has ever heard: PCH1, or pontocerebellar hypoplasia type 1, which attacks the brain and the spine.

It’s a particularly cruel disorder, occurring mostly in infants, who begin manifesting symptoms at or soon after birth, with poor muscle tone, difficulty feeding, growth retardation and global developmental delay.

Now, thanks to the cooperation of a California family stricken by the disorder and a state-of-the-art genomic sequencing lab at UCLA, Dr. Joanna Jen, a UCLA professor of neurology, and colleagues discovered a specific mutation of a gene that is responsible for PCH1 in this family, then confirmed mutations in the same gene in several other PCH1 families around the world.

The study appears in the April 29 in the online edition of the journal Nature Genetics.

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1 Comment | California, Research, United States | Tagged: california, research, united states | Permalink
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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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2 Comments | Clinical Trial, FSMA, Illinois, Press Release, Research, United States | Tagged: clinical trial, FSMA, illinois, press release, research | Permalink
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UC Berkeley class prepares disabled students for competitive job market

April 23, 2012

UC Berkeley class prepares disabled students for competitive job market

UC Berkeley News Center | April 23, 2012 | By Yasmin Anwar

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If it’s a tough job market out there for able-bodied college graduates, imagine how employment prospects might look to students with cerebral palsy or a muscular or neurodegenerative disease.

Take Jade Theriault, a freshman at the University of California, Berkeley, who uses a wheelchair and worries about how to discuss with a prospective employer the workplace accommodations she will need due to spinal muscular atrophy.

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1 Comment | Advocacy, California, Education, United States | Tagged: advocacy, california, education, united states | Permalink
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Avery’s Bucket List (Video)

April 19, 2012

Avery’s Bucket List (Video)

FOX (Houston) | April 17, 2012 | By Sally Macdonald

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HOUSTON – A five-month-old Houston baby is on a mission to teach the world about her fatal genetic disease. You’ve likely never heard of Spinal Muscular Atrophy, but 7.5 million Americans carry the gene that causes it.

Doctors have given Avery just 18 more months to live.

“Nothing will ever be the same as far as what’s important,” said Laura Canahuati, Avery’s mommy.

“I don’t want my daughter to die in vain, and I feel like if someone doesn’t tell her story that’s what’s going to happen,” said Mike Canahuati, Avery’s daddy.

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3 Comments | Awareness, Inspiration, Texas, United States | Tagged: advocacy, awareness, inspiration, Texas, united states | Permalink
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One Family’s New Normal [Video]

April 19, 2012

One Family’s New Normal [Video]

Columbus Parent | By Jane Hawes

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It’s called Spinal Muscular Atrophy Type 1 and it has become the “new normal” for the Kingsley family.

Scott and Allison Kingsley’s youngest son Brett was diagnosed with SMA-1, a disease that affects voluntary muscle movement, when he was 7 months old. He just turned 6 in March and continues to beat the odds, thanks to a family-based system of care and what his mother calls their “circle of hope.”

It’s a circle that starts with Brett or “Prince Brett,” as Nationwide Children’s Hospital social worker Lori McCullough and other staff members there have dubbed him. He’s a blond-haired boy with dark eyes that move constantly, taking in everything around him, and elegantly long fingers that dance across the controls of the DynaVox, a speech-generating device, that talks for him.

The next ring of the circle is populated by his immediate family. Allison is the mom. You could call her a homemaker, but to do so you’d have to expand your definition of “home” to include most of the 614 area code. When she isn’t overseeing much of Brett’s therapies, doctors’ visits and all three of her children’s schooling in the Hilliard district, she’s giving speeches to new employees at Nationwide Children’s Hospital as part of their Family Advisory Council’s “Family as Faculty” program. And, of course, she’s also getting everyone else in the family fed, clothed and off to school, work or church each day.

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1 Comment | Awareness, Inspiration, Ohio, United States | Tagged: awareness, inspiration, ohio, united states | Permalink
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Diagnosis: Creeping Weakness

April 15, 2012

Creeping Weakness

New York Times Magazine | April 13, 2012

“You need to see a doctor,” the woman told her 27-year-old daughter. “Really,” she insisted. “I’m worried.” Her daughter, who lived several states away, was visiting, and when the mother happened to see her go up the stairs, she was struck by how odd this simple, everyday action looked. Her daughter’s slender hips rocked from side to side as she moved up the steps. It was as if she had to lift her entire body to bring up each leg. Her mother was certain that something was wrong.

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Ms. Wheelchair Massachusetts encourages others to pursue their dreams

April 15, 2012

Ms. Wheelchair Massachusetts encourages others to pursue their dreams

Community Advocate | April 13, 2012 | By Sue Wamboldt

Marlborough – Most Sunday mornings Patti Panzarino can be found attending church service at Greater Grace Christian Fellowship in Marlborough, 187 Pleasant St. Outside of the sanctuary, she is not only a founding member of the band, OLYPSYS, but she has recently been crowned Ms. Wheelchair Massachusetts.

Panzarino was born with Spinal Muscular Atrophy Type 2 (SMA 2), a genetic disease in which loss of nerve cells in the spinal cord affects the part of the nervous system that controls voluntary muscle movement. Although Panzarino has lived her life in a wheelchair, she has not let her disability get in the way of her dreams.

Panzarino brought her message of empowerment to the Ms. Wheelchair Competition March 3. Her platform of “Creative Perseverance,” born out of life experiences, inspired the judges to crown her Ms. Wheelchair Massachusetts 2012 at the Massachusetts Hospital School in Canton. The mission of the Ms. Wheelchair America Program, and the individual state programs, is to “provide an opportunity for women of achievement who utilize wheelchairs to successfully educate and advocate for individuals with disabilities,” according to the organization’s website http://www.mswheelchairmass.org.

“The platform for my year as Ms. Wheelchair Massachusetts is ‘Creative Perseverance.’ This has actually been the theme of my whole life,” Panzarino said. “I learned to self-advocate from my older sister who mentored me at a very young age. The more that people with disabilities push through obstacles and participate in life, the more people will see us and our acceptance and encouragement to participate increases. It becomes an upward spiral.”

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Leave a Comment » | Advocacy, Awareness, Inspiration, Massachusetts, United States | Tagged: advocacy, awareness, inspiration, massachusetts, united states | Permalink
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Disabled but determined: Winton filmmaker has Hollywood dreams

April 15, 2012

Disabled but determined: Winton filmmaker has Hollywood dreams

Merced Sun-Star | April 13, 2012 | By Doane Yawger

WINTON — Don’t tell Aaron Schindler something is impossible. That will make him even more determined to make it happen.

The 31-year-old Winton resident has muscular dystrophy and spinal muscular atrophy, which make him wheelchair-bound and severely limit his mobility. Despite these setbacks, he intends to produce a full-length animated feature film that could hit movie screens in about three years.

“The quote I live by is, ‘Nothing is impossible,’ ” he said. “If you take the impossible and break it into little tasks, the impossible becomes possible. I’m a pretty easygoing person and let stuff roll off my shoulders and don’t let anything bug me too much.”

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