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Isis Initiates Phase 1 SMA Clinical Study

Posted: December 19th, 2011 | By: Staff | 3 Comments
Monday, December 19th, 2011
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ISIS INITIATES PHASE 1 CLINICAL STUDY OF ISIS-SMNRX IN PATIENTS WITH SPINAL MUSCULAR ATROPHY

CARLSBAD, Calif., December 19, 2011 – 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.

SMA is a severe genetic disease that affects approximately 30,000 – 35,000 patients in the United States, Europe and Japan. One in 50 people, approximately 6 million people in the United States, are carriers of the SMA gene. Carriers experience no symptoms and do not develop the disease, however, when both parents are carriers, there is a one in four chance that their child will have SMA. SMA is caused by a loss of, or defect in, the survival motor neuron 1 (SMN1) gene leading to a decrease in the protein, survival motor neuron (SMN). SMN is critical to the health and survival of nerve cells in the spinal cord that are responsible for neuro-muscular growth and function. The severity of SMA correlates with the amount of SMN protein. Infants with Type 1 SMA, the most severe life-threatening form, produce very little SMN protein and have shortened life expectancy. Children with Type II and Type III have greater amounts of SMN protein and less severe, but still life-altering forms of SMA. ISIS-SMNRx is designed to treat all types of childhood SMA by altering the splicing of a closely related gene (SMN2) that leads to the increased production of fully functional SMN protein.

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Categories : FightSMA News, Spinal Muscular Atrophy News Stories, Spinal Muscular Atrophy Science and Research
 

A Letter from Martha Slay

Posted: December 16th, 2011 | By: Staff | No Comments
Friday, December 16th, 2011
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Dear Friends,

I hope that all is well and that you and your families are enjoying a lovely and refreshing holiday season.

For the last 20 years, Joe and I have had the privilege of knowing you and working with you shoulder to shoulder to build awareness for SMA and to fuel research that will one day alleviate the suffering of our community.

As founders, we had a dream to see a network of zealous parents, researchers, families and friends, both individual and corporate, committed to fight SMA. We have seen this dream come true and now our organization is poised to move forward into a new season of opportunity.

I am delighted to announce that Ron Imbach, a non-profit executive with over 12 years of fundraising experience has accepted the position of FightSMA Executive Director and joined the FightSMA Board of Directors. Most recently Ron has worked in development and leadership for Volunteers of America and The Campaign for Tobacco-Free Kids. We are delighted that Ron has joined FightSMA. Ron will work closely with our Board of Directors and Scientific Advisory Committee to strategically develop the FightSMA path forward.

Joe and I will remain active members of the FightSMA Board of Directors and committed to the life and prosperity of the SMA Community.

All the best,

Martha

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Categories : Featured, FightSMA News
 

The GSF and FightSMA Announce 100K Research Award

Posted: December 15th, 2011 | By: Staff | No Comments
Thursday, December 15th, 2011
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The Gwendolyn Strong Foundation (theGSF) and FightSMA, are excited to announce a $100,000 award to Dr. Monique A. Lorson and University of Missouri in support of Dr. Lorson’s research focused on developing a large animal model of Spinal Muscular Atrophy (SMA).

Currently, no large animal model of SMA exists and the goal of Dr. Lorson’s research is to develop the first ever pig based model of SMA to be used by the broad, global SMA research community and other research groups to allow them to more efficiently and effectively move promising research from the bench to bedside. In short, this is a very exciting program that has the potential to have a material, positive impact on the future of SMA research in almost every category (e.g. gene therapy, compounds, antisense oligonucleotides).

SMA is the leading genetic killer of young children, occurring in approximately 1 in every 6,000 live births and with a genetic carrier frequency of approximately 1 in 40. However, no treatment or cure exists. Currently, researchers around the globe are working on many fronts to develop effective SMA therapies using the available SMA mouse models. However, it is widely known that these mouse models have significant limitations. It is anticipated that since the pig has many biological and physiological similarities to the human that an SMA pig model will more closely mimic the human condition and, therefore, provide researchers with a more realistic model through which to test potential SMA therapies.

A quote from Dr. Monique A. Lorson of University of Missouri:

“With the support of FightSMA and the Gwendolyn Strong Foundation, our collaborative team at the University of Missouri has made important progress towards developing a large animal model of SMA. Our goal is to generate two animal models of SMA in the pig: the first model specifically addresses therapeutics aimed at changing SMN2 splicing and the second reflects the true SMA disease model. The first animal model has been generated and we are preparing to evaluate delivery parameters and therapeutics aimed at increasing SMN2 exon 7 splicing in these pigs. We are also on our way towards having the SMA disease model. We are grateful to FightSMA and Gwendolyn Strong Foundation for their support of this project. This award will be used to generate SMA pigs and further develop the SMA animal model for therapeutic studies.”

“We are unbelievably honored to announce this targeted $100,000 research grant,” said Bill Strong, theGSF co-founder. “This is an exciting program; with its potential big-picture impact and long-term benefits to SMA research across the board. Researchers around the globe are excited about Dr. Lorson’s SMA large animal model and how it may help answer important questions and streamline the research process. Dr. Lorson’s program should provide a more effective model for these researchers to test their potential therapies and allow government entities, pharmaceutical companies, and nonprofit organizations like ours to have a higher potential return on their research funding investment as we continue to collectively work towards finding a potential therapy for SMA in the future.”

“This research initiative is a game-changer,” said Martha Slay, founder of FightSMA  “We’re excited about the potential that this model has for the full spectrum of SMA research and the impact of this research on our community.  We are equally excited and honored to continue our collaboration with the Gwendolyn Strong Foundation.”

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FightSMA to be contributing sponsor at Care for Rare

Posted: November 28th, 2011 | By: Staff | No Comments
Monday, November 28th, 2011
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On November 29, 2011, FightSMA will be sponsoring a dinner at Care for Rare, a workshop in Toronto that will chart a collaborative course for a multi-disease effort.  Dr. Alex MacKenzie, co–chair of the FIghtSMA Scientific Advisory Committee, will convene pediatric experts at the Westin Harbour Castle (Toronto), to examine ways that science can penetrate the mysteries of rare diseases. The Care for Rare workshop will mobilize a diverse group of experts for orphan disease therapy to both formulate a generalizable approach for pre-clinical orphan disease treatment development and build a short list of disorders to be pursued.  SMA is the primary inspiration for this workshop.

We believe that this is just the beginning of what can be achieved with SMA as the cornerstone of such collaborative efforts!

 

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Categories : FightSMA Articles, FightSMA News, General Information, Spinal Muscular Atrophy Events, Spinal Muscular Atrophy Science and Research
 

SMA Symposia Meeting at the Society for Neuroscience

Posted: September 9th, 2011 | By: Staff | No Comments
Friday, September 9th, 2011
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Official Event PDF: SAVE THE DATE SfN 2011


The Society for Neuroscience will be hosting an annual conference in Washington, D.C., November 12-16, 2011.  Neuroscience 2011 is “the premier venue for neuroscientists from around the world to debut cutting-edge research on the brain and nervous system”  (SfN).  As part of this important conference, FightSMA’s Science Director, Chris Lorson, is conducting an SMA Symposia Meeting.  Among those scheduled to speak are Dr. Chien-Ping Ko, Dr. George Mentis, and Dr. Charlotte Sumner.

This meeting will be open to the public and parking will be available at the venue.  Details copied from the event website follow:

“Pretzels and endplates: Motor neuron pathology and the role of SMN in motor neuron development.”

Symposia Meeting Date & Time: Monday, November 14, 6:30 PM – 9:30 PM

Location: Walter E. Washington Convention Center

Room: 150B

Sponsor Category: University/Non-Profit

Sponsored By: SMA Organizations: Fight SMA, Families of SMA, SMA Foundation, and MDA

Spinal Muscular Atrophy (SMA) is a relatively common neurodegenerative disease caused by the loss of the Survival Motor Neuron 1 (SMN1) gene and is a leading genetic cause of infantile death. SMA is classically defined as a lower motor neuron disease, however, it is unclear why reduced levels of SMN lead to motor neuron loss. A growing number of SMA clinical trials are on the horizon, yet our understanding of neuronal development and degeneration in SMA is only now coming into focus. Chien-Ping Ko (University of Southern California), George Mentis (Columbia University), and Charlotte Sumner (Johns Hopkins University) will present cutting-edge research that details the functional deficits of SMA neurons and how the emerging pathology in rodent models and human tissues provides an essential baseline for upcoming clinical trials as well as insight into SMN-associated function. Chair: TBD Speakers (draft titles only) Chien-Ping Ko, PhD: Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy; George Mentis, PhD: Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy; Charlotte Sumner, MD: Analysis of SMA Tissue and Neuronal Pathology from Autopsies.

Contact:
Chris Lorson
SMA Organizations
Phone: 573-884-2219
E-mail: lorsonc@missouri.edu

-Please contact Chris, or FightSMA, if you have any questions about this event.

 

 

 

 

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Categories : FighterMom Disease Advocacy News, FightSMA News, General Information, Spinal Muscular Atrophy Events, Spinal Muscular Atrophy News Stories
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