Whittier mom trying to find cure for daughter’s disease

August 25, 2012

Whittier Daily News | August 24, 2012 | By Sandra Molina

WHITTIER – Jaclyn Davis first heard the words, “spinal muscular atrophy” in July 2010.

Her daughter Isabella Joy, who prefers to be called Bell, was visiting a neurologist, when he told the young mom his diagnosis.

“The neurologist sent me to a geneticist to have yet more blood work done,” Davis said. “On August 29th of 2011, just two months before Bell’s second birthday, I received the devastating news that the blood work confirmed she was positive for SMA.”

Spinal muscular atrophy, the number one genetic killer of children under the age of two, is an often fatal disease that destroys the nerves controlling voluntary muscle movement, which affects crawling, walking, head and neck control, and even swallowing.

There are certain moments in people’s lives that carry great significance.

For Davis, 24, this was one of them.

“I remember their words telling me that most SMA children don’t live past two years of age,” she said. “I though to myself, `well, she’s almost two, and she seems so healthy.”‘

Click HERE or on the image below to read more…

Advertisements

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.”

Click HERE or on the image below to read more…


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.

Click HERE or on the image below to read more…


Single Administration of Antisense Oligomer Delivered to the CNS Rescues a Severe Mouse Model of Spinal Muscular Atrophy

December 22, 2011

Single Administration of Antisense Oligomer Delivered to the CNS Rescues a Severe Mouse Model of Spinal Muscular Atrophy

FSMA News | December 22, 2011

The Burghes laboratory at Ohio State University publishes a paper in Human Molecular Genetics showing a single dose of an antisense oligomer (ASO) can greatly benefit survival, weight gain, and motor function in severe mouse model of SMA.

In this study, the authors delivered a bolus ICV injection of anti-sense oligonucleotide (ASO) of morpholino chemistry to alter SMN2 splicing and increase SMN levels. Treated SMA mice had improvement in weight gain, motor activity, and increased survival from 15 days to over 100 days. Delayed CNS delivery (P4) had an intermediate advantage, evidence that earlier CNS treatment yields more robust effects, while delayed peripheral delivery after blood-brain-barrier maturation had only modest increased survival. This suggests that CNS delivery of SMN is key to therapeutic benefit in this SMA mouse model.

Click HERE or on the image below to read more…


Isis Initiates Phase 1 Clinical Study of ISIS-SMNRx in Patients With Spinal Muscular Atrophy

December 19, 2011

Isis Initiates Phase 1 Clinical Study of ISIS-SMNRx in Patients With Spinal Muscular Atrophy

Press Release | December 19, 2011

CARLSBAD, Calif., Dec. 19, 2011 /PRNewswire/ — Isis Pharmaceuticals, Inc. (NASDAQ: ISIS) announced today that it has initiated a Phase 1 study of ISIS-SMNRx in patients with spinal muscular atrophy (SMA). SMA is a severe motor-neuron disease that is the leading genetic cause of infant mortality. Isis is developing ISIS-SMNRx as a potential treatment for all Types of SMA.

“SMA is a devastating disease that leads to the loss of motor neurons resulting in muscle weakness and respiratory failure in children. The genetic cause of this disease is well understood, but there are currently no effective disease-modifying therapies. Currently, treatment of SMA is entirely symptomatic and focuses on preserving muscle strength and lung function by physical therapy and assisted ventilation. This supportive approach has improved the natural history of SMA by extending life expectancy, but muscle weakness and atrophy are not affected. A disease-modifying drug like ISIS-SMNRx that specifically targets the cause of the disease could, for the first time, restore muscle strength and respiratory function and dramatically improve the children’s function and quality of life,” said Darryl C. De Vivo, M.D., Sidney Carter Professor of Neurology and Pediatrics and Co-Director of the Motor Neuron Center at Columbia University Medical Center.

Click HERE or on the image below to read more…


Cross Fit raises $2,700 for muscular atrophy kids

November 8, 2011

Cross Fit raises $2,700 for muscular atrophy kids

mySanAntonio.com | November 2, 2011 | By Miranda Koerner

More than 80 kids participated in exercises at Comal Cross Fit Sunday to raise donations for the Families of Spinal Muscular Atrophy (FSMA) Kids 4 Kids event.

The event raised $2,700 for the cause.

The fundraiser was organized by Comal Cross Fit’s Gretchen Bonser after her neighbor, Melissa Fruend, approached her about becoming involved with FSMA.

“Our children are so blessed and fortunate to be healthy,” Bonser said. “I thought it was only appropriate for kids to be paying it forward for kids.”

Click HERE or on the image below to learn more…


USC Scientist Targets the No. 1 Genetic Cause of Infant Mortality

October 18, 2011

USC Scientist Targets the No. 1 Genetic Cause of Infant Mortality

HealthCanal.com | October 13, 2011

The disease is heartbreaking. It turns babies into ragdolls and extinguishes lives just as they are getting started. But one USC scientist is working to unravel the mystery behind the leading genetic cause of infant mortality, uncovering how Spinal Muscular Atrophy disconnects muscles from the mind.

Spinal Muscular Atrophy, or SMA, is a neurodegenerative disease caused by a recessive gene mutation that results in a deficiency of the Survival of Motor Neuron, or SMN, protein. In a phenomenon called “denervation,” neurons lose their physical connection to muscles, resulting in a loss of motor control and muscle weakness.

A team of researchers lead by Chien-Ping Ko of the USC Dornsife College of Letters, Arts and Sciences has generated the first extensive study of severe denervation occurring in specific muscles affected by SMA. The data allows them to measure the effectiveness of drug treatments, and will act as a springboard for future research that explores the cause of SMA.

Click HERE or on the image below to read more…