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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Posted by stronwi
June 23, 2011
Family, Friends, Fans Help Little Boy With Debilitating Disease
WFMZ | June 21, 2011 | By Pam Cunningham
ALLENTOWN, Pa. — Several kids celebrating their birthdays threw out a ceremonial first pitch Wednesday night at the R-Phils game at FirstEnergy Stadium.
But one 6-year-old can’t throw because of a disease that keeps him wheelchair bound. Yet, he still went up to the mound and enjoyed his first live baseball game.
Take me out to the ball game sounds like a simple request, but for Skyler Reed it’s a big task.
Skyler’s birthday is Saturday. Six years ago he was born with the most muscle strength, he’d ever have. He has Spinal Muscular Atrophy, or SMA.
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June 21, 2011
Stem-Cell Gamble
Technology Review (MIT) | June 21, 2011 | By Antonio Regalado
Hans Keirstead wakes up every morning at his home near Los Angeles and checks CNN. He’s looking for news about the first-ever human test of embryonic stem cells, launched in October by the biotechnology firm Geron. Mostly, he’s looking for bad news. “If someone dies, or is in pain, then it’s over,” he says, pushing a hand through his tawny hair. Keirstead, dressed in a loose linen shirt and wearing a thumb ring, is a biologist at the University of California, Irvine, who has variously been called the “rock star,” “miracle worker,” and “Pied Piper” of stem-cell science. Today he has a corner office in a new $67 million research center paid for in part by California voters, whom he helped persuade to vote for a $3 billion stem-cell spending plan in 2004 with a video of partially paralyzed rats walking again after stem-cell transplants performed in his laboratory.
That same treatment is now being tested in human beings. No wonder Keirstead is anxious. Although he is not directly involved in the clinical trial, the discovery he patented, promoted to Californians, and later licensed to Geron has now become the leading test of whether embryonic stem cells will finally live up to their medical potential. “I’m dying to know if it works,” he says.
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June 20, 2011
Climbing for Silas: Fundraisers to help 16-month-old boy with genetic disease
Pittsburgh Post-Gazette | June 20, 2011 | By Pohia Smith
Fewer than 1,000 infants and children are believed to be living in the United States with a life-threatening genetic neuromuscular disorder called SMARD, or spinal muscular atrophy with respiratory distress.
One of them is 16-month-old Silas Werner of Friendship, the son of John and Lisa Werner, who both are recessive carriers of the SMARD gene. His sister Valentia apparently died of the disease a year before his birth, although the cause was initially given as sudden infant death syndrome, or SIDS.
With SMARD, the patient has extreme respiratory distress because his diaphragm becomes paralyzed. He also has progressive severe body weakness, predominantly in the lower limbs. Silas’ disease now has progressed to most of his body, excluding his face and internal organs.
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June 20, 2011
‘Baby Michael’ of Albrightsville receives a donation van
Pocono Record | June 20, 2011 | By Vinny Vella
The Benincasa family of Albrightsville received some good news last week, and it came on four wheels.
“Baby Michael” Benincasa — who has Type 1 Spinal Muscular Atrophy, a condition that has rendered him quadriplegic and unable to breathe without assistance — now has a wheelchair-accessible vehicle thanks to Steven Kirby of Sciota.
After reading about the breakdown of the family’s previous vehicle in the Pocono Record, Kirby knew he had a solution to their problem.
His late mother, Christine Kirby, suffered from multiple sclerosis and relied on a wheelchair-adapted 2000 Chrysler Town and Country for transportation. Since he no longer needed the minivan, Kirby donated it to the Benincasas.
“I’m glad we could help out,” he said. “Michael is a great kid, and deserves the best. I’m sure my mom is happy that we did this as well.”
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June 17, 2011
Maple Ridge students making wishes come true
MapleRidgeNews.com | June 17, 2011 | By Colleen Flanagan
Students at Alexander Robinson will be making a sick little girl’s dream come true this year.
After raising $2,783.06 for the Make-A-Wish Foundation of B.C. and Yukon, they learned that they will be sending an 11-year-old girl suffering from Spinal Muscular Atrophy (SMA), to see Glee in concert in Toronto and to also meet the cast.
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June 17, 2011
Spinal muscular atrophy: Helping nerve fibers find their way
Vector (Children’s Hospital Boston) | June 17, 2011 | By Nancy Fliesler
Spinal muscular atrophy is sometimes referred to as a “Lou Gehrig’s disease of babies.” About 1 in 40 people carry the defective gene for this untreatable recessive disease, which causes progressive muscle degeneration and is the leading genetic killer of infants and toddlers. Affected children have weak, floppy legs and arms and must go on ventilators, too weak to breathe on their own.
Researchers have had some success in mouse models of spinal muscular atrophy by adding back SMN, the protein that’s missing or abnormal, or getting the mice to produce more of it. The mice live longer, and do seem to have stronger muscles. But not so in human clinical trials to date.
Looking for another approach, Mustafa Sahin in Children’s Neurobiology Program asked a simple question: What does SMN do? Spinal muscular atrophy is a disease of motor neurons in the spinal cord, which tell the muscles to contract. So Sahin teamed up with Judith Steen (who directs the hospital’s Proteomics Core) and ran some neurons through mass spectrometry to find out, first of all, what proteins it keeps company with.
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June 16, 2011
A Hero in a Wheelchair
The Patriot Post | June 16, 2011 | By Roy Exum
As we sound the drums and lower the house lights so the spotlights can pick up the newest hero in my personal Hall of Fame, you’ll notice our newest honoree is dwarfed by the motorized wheelchair she is commanding with a hand lever but we make no apology that it will serve as the Chair of Honor for Audrey Winkelsas.
In fact, that chair is a beautiful accessory to this pretty girl’s life and has enabled her to scurry from first one classroom and then the next at Wekiva High School, where she and 500 of her classmates were graduated this weekend in the annual ceremonies held near Apopka, Fla.
Audrey Winkelas was the overwhelming choice as the school’s Valedictorian where, based on a 4.0 grade-point scale, her overall average was 5.1. The reason for such a disparity was because she made A’s in 14 Advanced Placement courses, this despite the fact her classmates would literally have to help her get her lessons from her bag because her hands and wrists are too frail to lift an average textbook.
Audrey, you see, has a crippling and incurable disease called spinal muscular atrophy and it is with great pleasure we tell you that she plans to dedicate the rest of her life studying and researching the disease. She has already been awarded a full scholarship to the University of Miami in Coral Gables.
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June 15, 2011
Despite losing use of arms, CSULA student achieves bachelor’s degree in graphic design
Alhambra Source | June 15, 2011 | By Margie Low
Alhambra resident Todd Tostado, who lost the use of his arms at age 14 as a result of spinal muscular atrophy, received his bachelor’s degree in art at Cal State Los Angeles this past weekend.
Tostado, who also has been using a ventilator since he was nine due to chronic respiratory failure, enjoyed drawing as a child, but eventually could not use his hands to draw due to the neuromuscular disease that progressively weakened his muscles. His parents bought him his first computer during his senior year at Alhambra High School, and there he began his quest to express himself creatively. With assistive technology, he was able to design and create art digitally.
After graduating from high school, he took art classes at Pasadena City College, then went on to pursue a baccalaureate degree in graphic design at CSULA.
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June 15, 2011
Local Mom Angry After Special-Needs Camp Sends Son Home
nbc4i.com | June 14, 2011 | By Candace Lee
REYNOLDSBURG, Ohio — Every four hours 13 year old Trevor Robinett endures at least three treatments to clear his throat and airway of phlegm. Diagnosed at the age of two with Spinal Muscular Atrophy, Trevor is often stuck at home being homeschooled. The only time he interacts with friends is when he play online video games.
However, one a year Trevor goes to camp. He’s been attending the Muscular Dystrophy Association’s week long residential camp since he was 5. Mom Michelle dropped him off Sunday, but hours later got a call from MDA camp staff to come and get her son.
“They told me that didn’t have the resources to take care of him. They said the nurse is uncomfortable with taking care of his needs,” said Michelle Robinett.
Trevor’s mom says his treatments for spinal muscular atrophy have not changed and is shocked her son was sent home early from a camp he looks forward to every year. She offered to send a home health aide, private nurse and herself as long as Trevor could stay.
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SMAHeadlines.com 