Transplanting a subset of neural stem cells (NSCs) to the spinal canal may be a potential therapy to delay disease progression in children with spinal muscular atrophy with respiratory distress type 1 (SMARD1), according to a preclinical study. The study, “CSF transplantation of a specific iPSC-derived…
Swallowing and speech problems are common in both children and adults with spinal muscular atrophy (SMA), and evident across disease types, a study reports. The most common bulbar complaints irrespective of SMA type are difficulties in biting, fatigue while chewing, choking, and a weak speaking voice. (Bulbar refers to…
The severity of motor problems in children at the time of diagnosis with spinal muscular atrophy (SMA) type 2 may help to predict likely disease progression, including the start of scoliosis and required ventilation, according to an Italian observational study. This is important because a better understanding SMA’s natural history — how…
Electrotherapy combined with physical exercise may be used to improve motor function in people with spinal muscular atrophy (SMA) type 3, according to a case report. The study, “Exercise Combined with Electrotherapy Enhances Motor Function in an Adolescent with Spinal Muscular Atrophy Type III,” was published in…
With increasing insurance coverage and AveXis’ plans to broaden access to older spinal muscular atrophy (SMA) patients, the U.S. Food and Drug Administration (FDA) remains “very confident” in the use of Zolgensma despite preclinical data concerns, according to an official from the agency. Cure SMA…
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
Russia has become the first of the 15 former Soviet republics to approve Biogen’s Spinraza (nusinersen) to treat spinal muscular atrophy (SMA). In its decision, the Russian Health Ministry noted that much more data exists on Spinraza’s benefits for patients 17 years and younger than for those 18…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
The biopharmaceutical company Cytokinetics and the nonprofit organization Cure SMA have announced a renewal of their partnership. The partnership aims to increase education and awareness for spinal muscular atrophy (SMA), as well as to promote public policy and fundraising efforts that support people who are living with…
Although damage to motor neurons characterizes spinal muscular atrophy, problems with lipid (fat) metabolism are an important feature of SMA that should be addressed to minimize the risk of heart and liver disease related to high levels of fatty molecules in people with the disorder, a study found. Complications due to poor …
