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SadBaby, an organization that raises donations to support children with spinal muscular atrophy (SMA), is launching a crowdfunding platform. The project, based on digital currency donations, intends to gather funds from supporters and investors to help families financially with the costly treatments associated with SMA. “SadBaby is doing…
In 1980, when Michael was 15 years old, he underwent scoliosis surgery at Scottish Rite Hospital in Dallas. During his preop preparation, his parents performed percussion therapy on his back to keep excess fluid and mucus from building up in his lungs. They did this for three months…
AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies are those used to treat rare and chronic conditions in the U.S., and are often extremely costly. For…
A wearable cybernetic leg significantly improved the gait and ability to perform walking exercises of people with neuromuscular disorders, such as spinal muscular atrophy (SMA), as compared to a conventional hoist, according to a recent clinical trial. The trial’s results were published in an article, titled “…
Two mutations in the VRK1 gene were found in two unrelated Hispanic adults, with symptoms suggestive of an atypical form of adult-onset spinal muscular atrophy (SMA), according to a case report. While VRK1 mutations are mainly associated with pediatric-onset neuromuscular conditions marked by brain abnormalities and cognitive problems, these new cases…
A hospitalized 3-year-old with spinal muscular atrophy (SMA) type 1 died after being infected by the virus that causes COVID-19 and having a widespread inflammatory response — unusual in infected children — known as multisystem inflammatory syndrome, a case report found. This girl’s case “highlights the importance of close surveillance,…
Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…
Biochemical modifications made to antisense oligonucleotides — molecules that are the basis of an existing therapy for spinal muscular atrophy (SMA) — may improve this and similar treatments, new research suggests. More work, which is underway, is needed as the biochemical changes seen to possibly offer an advantage were more…
About one year of treatment with Spinraza (nusinersen) effectively prevents or reverses motor function decline in children and adults with spinal muscular atrophy (SMA) type 3, according to real-world data from an international registry. Notably, when compared with an external group of untreated patients, who always showed negative changes in…
Treatment with human fat tissue-derived mesenchymal stem cells (MSCs) may improve motor nerve cell health and survival in infants with spinal muscular atrophy (SMA) type 1, according to data from a small Phase 1 clinical trial in Iran. Notably, the stem cell treatment appeared to have effectively slowed disease progression…
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