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According to a new study, a molecule known as A15/283 being developed to treat SMA , has shown significant efficacy in male mouse models of the disease. A15/283 is a DNA sequence that binds to mRNAs, which are the intermediary molecules between the DNA and the protein. Since mRNAs must be single-stranded in order to become “translated” into proteins, the binding of this DNA sequence to mRNA molecules renders the mRNA unable to be turned into a protein, as the molecule is now double-stranded. Using this technique against a degradation protein that would otherwise degrade SMN will likely boost SMN levels. Researchers gave A15/283 to mouse models of SMA lacking the SMN protein once and again three days after birth. Results showed gender-specific improvement of tail necrosis in male mice. Researchers also observed a modest increase in SMN protein levels, leading to significant improvement in certain symptoms specific to SMA in mice. Researchers also concluded that early administration of A15/283 led to a near-total correction in expression levels due to increases in the SMN protein. “These results in the mouse model are very promising for the possible treatment of mild spinal muscular atrophy cases in children,” Dr. Ravindra Singh, a professor of biomedical sciences at Iowa State's College of Veterinary Medicine, said in a press release. “We’re hoping this line of research could someday lead to clinical trials, but more work remains before that can happen.”

At nine months of age, Brianna Albers was diagnosed with spinal muscular atrophy (SMA) type 2. As a 22-year-old college senior from Rosemount, Minnesota, she also struggles with social anxiety, dysthymia (mild depression), and disordered sleep. In society’s view, she says, that makes her a bit of a monster. “Disabled…

Alyssa Silva was 8 years old when she set up a lemonade stand one summer day and saved the proceeds to benefit spinal muscular atrophy, which she had been diagnosed with at 5 months old. Although modest, her lemonade sales set the tone for years to come – she had been bitten by the fundraising bug. Now, at age 26, Silva’s nonprofit business WOW (Working on Walking) is holding a major fundraiser on Saturday, Aug. 26, in Providence, Rhode Island. This gala is different than the others and especially dear to Silva. It celebrates the first year that Biogen’s Spinraza, the first approved treatment for SMA, has been on the market. Spinraza was authorized in December 2016, which is when Silva began treatment. At the time she was in the middle of a clinical trial and the commercialization of the new drug. Biogen is the major sponsor of Saturday’s gala. “It’s a brand-new event this year. It’s both terrifying and exciting at the same time,” said Silva, who lives in nearby Cumberland with her parents. She said 100 percent of the proceeds will benefit SMA. They will be split between Cure SMA and Boston Children’s Hospital, which has an SMA clinic that distributes Spinraza. “The SMA clinic at Boston Children’s needs the money for research – they don’t get a lot from the hospital, so we give money to them,” Silva said. Tickets to the gala are $85, more than for any event WOW has held before. There will be food stations, a band, dancing, silent auctions and raffles. The wheelchair-bound young woman writes a blog called AlyssaKSilva.com, a column for SMA News Today called “Life, One Cup at a Time,” and graduated from college in 2013 with a business degree in marketing. She hopes to be a writer some day, though she doubts she’ll ever stop raising money for SMA. “It’s my joy, my passion project, but I don’t see it as the main component of my future,” she said. One year, 500 people attended the golf and dinner fundraiser. The annual WOW event generated $37,000 one year. In 2014 Silva decided to obtain nonprofit certification for WOW. Regarding the breakthrough SMA drug, Silva said Spinraza has improved her speech, respiratory function, and stamina. Although she classifies the changes as less than sweeping, the therapy "has made a big difference in my life,” she said. Her family has been her strength through the difficulties she's endured with SMA, Silva said. Her parents and big brother Adam, who is married and lives down the street, have been instrumental in helping her stay optimistic about her future, she said.

Spinal muscular atrophy (SMA) experts and patient representatives concede they have a long way to go in updating a consensus document on SMA standards of care. Their report, “218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA, Naarden, The Netherlands, 19-21 February 2016,” recently appeared in the…

As potentially lifesaving, but costly, therapies become available for rare genetic diseases — such as Spinraza (nusinersen) for spinal muscular atrophy (SMA) — neurologists are finding themselves in the increasingly uncomfortable position of deciding which patients are most likely to benefit, and how they can help families pay for…

Roche has started enrolling infants with spinal muscular atrophy (SMA) type 1 in a Phase 2 trial of its SMN2-targeting therapy RO7034067, following positive early results from a similar and ongoing study of the compound in older children with type 2 and 3 SMA. The FIREFISH trial (NCT02913482),…

Texas is considering adding spinal muscular atrophy (SMA) to its list for newborn screening in the wake of the U.S. Food and Drug Administration’s approval in December of Spinraza (nusinersen), the first treatment approved for a broad range of SMA patients. The addition of SMA to Texas’ newborn screening list…

A designer trying to manufacture a custom-fitting exoskeleton for children with spinal muscular atrophy (SMA) has partnered with the 3D printing company Sinterit. According to a 3D Printing Industry news story, Bartłomiej Gaczorek began the exoskeleton project after getting a call from a parent of a child with…

With August recognized as SMA Awareness Month, this year the spinal muscular atrophy (SMA) community is focused on promoting nationwide newborn screening. Since 1996, Cure SMA has coordinated efforts to give the SMA community a specific time of year to think about the latest advancements and to balance what still…

Subcutaneous administration of a new class of antisense oligonucleotide (ASO) compounds called tricyclo-DNA may be an efficient therapy for spinal muscular atrophy (SMA), according to a study in mice. SMA is an inherited disorder caused by mutations in a gene called SMN1 that encodes the protein SMN. The absence…