LMI070 (branaplam), a candidate oral therapy under development by Novartis, is being tested in a Phase 1/2 clinical trial for infants with spinal muscular atrophy (SMA) type 1. A recent study describes how the compound was discovered from a large screen for SMN2…
A non-invasive electrophysiology technique called motor unit number index, or MUNIX, can effectively assess the loss of motor nerve cells and muscle impairment in adults with spinal muscular atrophy (SMA) types 3 and 4, a study in patients reports. The study “The motor unit number index (MUNIX) profile of…
A new gene of unknown function, called FAM135B, is expressed at lower levels in a cellular model of spinal and bulbar muscular atrophy (SBMA) and is thought to play a role in supporting spinal motor neurons’ growth and survival, a study found. The study, “Phenotypic and molecular features underlying neurodegeneration of…
Novartis may put a $4 million to $5 million price tag on its “one-time, potentially curative” gene therapy AVXS-101 for spinal muscular atrophy (SMA) and believes this could be cost-effective. “Four million dollars is a significant amount of money, but we believe that this is a cost-effective point,”…
A 3-D cell model derived from patients’ stem cells is able to mimic motor neurons from spinal muscular atrophy (SMA) patients and can become a better physiological tool to study disease mechanisms and screen therapy candidates, new research shows. The study,…
Establishing care coordinators is key to providing successful family-centered care to young spinal muscular atrophy (SMA) type 1 patients and their families, according to a recent study. The study, “Identifying Opportunities to Provide Family-centered Care for Families With Children With Type 1 Spinal Muscular Atrophy,” was published…
Researchers have successfully generated stable lines of spinal cord neural stem cells (NSCs), which, when transplanted into a rat model of spinal cord injury, were able to become multiple types of neurons and drive spine regeneration. Derived from human embryonic stem cells (hESCs), these induced cells also included progenitors that give rise…
Preliminary data from two ongoing clinical trials into risdiplam (RG7916) — a potential oral therapy for all types of spinal muscular atrophy — support its considerable promise, with treated babies now able to “roll, sit, kick … things that they [otherwise] never do,” the CEO of PTC Therapeutics said in…
With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Creditand affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate, or…
Specific patterns of DNA modifications in the DYNC1H1 gene are directly associated with spinal muscular atrophy severity in different forms of the disease. These findings could be the first step toward the identification of new SMA modifiers. The study, “DYNC1H1 gene methylation correlates with severity of spinal muscular…
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