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Orphan drug development company AveXis Inc. recently announced the completion of the dosing phase in the low-dose cohort of the company’s ongoing clinical trial efforts for its experimental Type 1 spinal muscular atrophy (SMA) therapy. This is the first human gene therapy trial for the disease, which started enrolling participants in late April. SMA is the…

Dallas, Texas-based AveXis, Inc., a biotechnology company working to improve the quality of life of patients suffering from severe genetic and orphan diseases like Spinal Muscular Atrophy (SMA) through the use of gene therapy, is launching a new website specifically dedicated to SMA, called SMAStudy.org. Focused on…

John Carbona, CEO of AveXis, along with Dr. Brian Kaspar have been invited to present the company’s latest developments at the 26th Annual Piper Jaffray Healthcare Conference, which will take place on Tuesday, December 2. AveXis is a biopharmaceutical company currently developing gene therapy-based treatments for severe genetic and orphan diseases such as spinal muscular atrophy (SMA) in order…

Isis Pharmaceuticals, Inc. has announced that it has initiated a Phase 3 clinical trial (CHERISH) that will test the safety and efficacy of their lead drug – ISIS-SMNRx – in non-ambulatory children with spinal muscular atrophy. Spinal Muscular Atrophy (SMA) is a disease caused by mutations in the Smn1 gene that…

Isis Pharmaceuticals, Inc. and AstraZeneca announced a new partnership to develop new, more efficient delivery methods of its antisense oligonucleotides to the desired tissue. Isis is currently utilizing its antisense technology to develop ISIS-SMNRx, an experimental therapy for spinal muscular atrophy being developed in collaboration with Biogen Idec. This new…

PTC Therapeutics, Inc. announced that their collaborative program with Roche and the SMA Foundation (SMAF) for Spinal Muscular Atrophy (SMA) has begun its second phase with adult and children patients, as part of the Phase 1b/2a study. The program is evaluating the safety and tolerability of an under-investigation drug – survival of…

This year, Cure SMA granted the 2014 SMA Breakthrough Award to Isis Pharmaceuticals at the Cure SMA Gala of Hope, which took place in Seal Beach, California. The award was granted to the company in recognition of their work and efforts to improve treatment of spinal muscular atrophy (SMA), the leading genetic cause of…

Early in September, the story of a 4-year-old girl from West Monroe, with spinal muscular atrophy (SMA), Ella Ecker, aired on Fox News about her one big wish to go to Disney World. Soon, donations for Ella’s wish to come true began coming in, but what sealed…

While SMA is a rare disease that many people are unaware of, an active network of advocacy groups work worldwide to raise funds and awareness about the disease. As part of this effort, the Angel Gala in Canada will continue its legacy of supporting spinal muscular atrophy (SMA)…

A study entitled “Patient with spinal muscular atrophy with respiratory distress type 1 presenting initially with hypertonia” reports a case study of a two-month-old boy with spinal muscular atrophy with respiratory distress type 1 that displayed hypertonia as an initial symptom and progressing to bone tissue compromise, a new symptom that has…