Dallas, TX based AveXis has announced that company co-founder John Carbona has resigned from his position as CEO. Mr. Carbona will remain a Director of AveXis. This announcement stems from a succession plan, the development of which has been in process as AveXis advances clinical development of its…
Previously thought to be a disease only of motor neurons, spinal muscular atrophy (SMA) is now also known to be influenced by support cells of the central nervous system. Specifically, astrocytes, which regulate synapse formation between neurons and provide metabolic support for neurons, are essential to the pathogenesis of SMA…
PTC Therapeutics recently announced the release of clinical data from their Phase I trial testing the effects of the company’s oral formulation RG7800 to improve the status of spinal muscular atrophy (SMA) patients. The study entitled “SMN2 splicing modifier RG7800 shows dose-dependent increase of full length SMN2 mRNA in first-in-human study” was…
A new study by an international research team characterized three new cases of a rare medical condition where spinal muscular atrophy (SMA) is associated with progressive myoclonic epilepsy (PME). The study is entitled “Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations…
The nonprofit organization Cure SMA has released another one of its booklets focused on improving care for patients with spinal muscular atrophy (SMA). This edition, which is entitled “The Musculoskeletal System“ and included in the organization’s care series booklets, aims to increase…
The non-profit organization Cure SMA has released the Spring 2015 issue of Compass, its research publication on the organization’s mission and most recent updates. Compass is a newsletter and online publication available for download that intends to increase the knowledge of patients who suffer from…
Jim, Mckenna and Amy Ellixson The Annual Muscles for Mckenna Gala was held for the third year in Philadelphia, Pennsylvania and has raised $107,000 in donations to support the non-profit organization Cure SMA. It is still possible to donate to help the organization reach the $115,000 goal, as the funding will finance…
The global consultancy company Communispace is conducting a market research project with care providers and family members of patients who suffer from spinal muscular atrophy (SMA). Those interested in participating need to simply fill out an online survey on the demands of taking care of a loved one…
Patients with spinal muscular atrophy (SMA) exhibit many signs of mitochondrial paucity. Weakened muscles and other pathologic muscle changes are accompanied by decreased levels of mitochondrial DNA (mtDNA) and decreased levels of mitochondrial respiratory chain complex proteins, such as complex II. Although all signs lead to decreased levels of…
Patients with spinal muscular atrophy (SMA) are subdivided into four categories based on disease severity and age of diagnosis, with type I the most severe and diagnosed in infancy and type IV the least severe and diagnosed in adulthood. It is known that the copy number of SMN2 genes…
