Reldesemtiv improved muscle strength for walking and respiration in a dose-dependent manner in spinal muscular atrophy (SMA) patients, data from a Phase 2 clinical trial show. As a fast muscle activator, reldesemtiv will not treat the underlying causes of SMA — a lack of the SMN protein to nourish muscles…
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A new way of restoring potentially adequate levels of survival motor neuron (SMN) — the protein missing in spinal muscular atrophy (SMA) — uses small molecules that target the structure of an intermediate player in this protein’s production. The study on this approach, “Targeting RNA structure in SMN2…
A pathway known as the cell’s “cleaning system” may be a promising target of alternative approaches to treating spinal muscular atrophy (SMA) — ones that look beyond the disease-causing mutation. This possibility is the focus of the perspective article, “Autophagy inhibition: a…
Two specific mutations may help in identifying people who are carriers of spinal muscular atrophy (SMA) — those who do not have the disease but can pass it to children — and should be aware before starting a family, a study from Spain reports. The study, “Utility…
Neurological health depends as much on signals sent by the body’s leg muscles to the brain as it does on those sent from the brain to the muscles, according to a recent study. These results offer new clues as to why patients with neurological diseases such as spinal muscular atrophy (SMA)…
Exicure’s gene c prolongs survival, increases the amount of SMN proteins, and shows limited toxicity in a mouse model of the disease, study data show. The investigational compound is a spherical nucleic acid (SNA) formulation of nusinersen, the active substance in Spinraza, made by Biogen and approved to treat all…
Decreased levels of an enzyme lead to cellular dysfunction and neuronal degeneration involved in the development of spinal muscular atrophy (SMA), a new mouse study suggests. The study, “Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy,” was published in Scientific Reports. An enzyme called DROSHA regulates the…
Targeted therapies or dietary supplements that work to improve the metabolism of certain molecules in muscle cells may slow the progression of spinal muscular atrophy (SMA), results of an early study in mice show. The study, “Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes…
AveXis is expanding its operations to North Carolina, opening up a new manufacturing center in Durham County, North Carolina Gov. Ray Cooper recently announced in a press release. The company is anticipated to invest about $55 million into the new facility and open up about 200 new jobs, giving a…
Canada’s healthcare system is excellent for people with common ailments like diabetes or high blood pressure, but it’s “basically failing the nearly three million Canadians with rare diseases.” So says Durhane Wong-Rieger, president and CEO of the Canadian Organization for Rare Disorders (CORD), a Toronto-based network representing 102 patient advocacy groups.
