Author Archives: Ana de Barros PhD

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

Risdiplam (RG7916) can improve both survival and motor function in patients with type 1 spinal muscular atrophy (SMA) beyond that expected in the natural history of the disease, according to recent clinical data. These data were presented during the 2019 annual meeting of the American Academy of…

A single administration of Zolgensma continues to extend the survival of patients with spinal muscular atrophy (SMA) type 1 while halting motor neuron loss several years after dosing, according to long-term clinical data. Zolgensma, developed by AveXis — later purchased by Novartis in 2018 — is a one-time treatment intended…

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…

Envisagenics announced that it has been given a two-year, $1.5 million grant from the National Institutes of Health (NIH) to further advance SpliceCore, a new biomarker and drug discovery platform. The award, a Small Business Innovation Research (SBIR) Phase 2 grant, will help Envisagenics in further developing SpliceCore,…

A program offered through a partnership between Invitae Corporation and Biogen offers free genetic testing to infants, children and others with clinically diagnosed spinal muscular atrophy or suspected of having the disease. The program, SMA Identified, aims to increase access to genetic testing for the SMA community, so that diagnosis can be confirmed early in the disease process and patients or their caregivers/parents discuss treatment opinions with healthcare professionals. SMA Identified works by detecting SMN1 whole-gene deletions and sequence variants and by quantifying SMN2 copy number. The genetic test could be used to confirm a suspected or clinical diagnosis of SMA, to determine the number of  SMN2 copies in a person with an established SMA diagnosis, to check for the disease in people with a family history of SMA, and to test first-degree relatives of people diagnosed with SMA via genetic testing. The program is open to anyone eligible for it in the United States and Puerto Rico, upon a request made by a qualified healthcare provider. Biogen, which produces Spinraza, the first and only approved treatment for SMA — and approved for all types — is providing financial support to SMA Identified, but will not receive any information on SMA patients identified through it, the release states. In February, the Advisory Committee on Heritable Disorders in Newborns and Children recommended newborn screening for SMA in every state. Arthur Burghes, a professor at Ohio State University, also called for newborn screening for SMA in a keynote lecture at the start of this year's International Scientific Congress on Spinal Muscular Atrophy in Kraków, Poland.

Cytokinetics and Cure SMA have expanded their existing partnership to increase education, awareness and fundraising for spinal muscular dystrophy (SMA). As a National Platinum Partner for 2018, Cytokinetics will support several of Cure SMA’s initiatives at both local and national levels to help further research of potential…

More than $1.57 million in funding, recently awarded to the Canadian Institut National de la Recherche Scientifique (INRS), will go toward new research facilities, including one to study motor neuron diseases like spinal muscular atrophy (SMA). The award, given by the Canada Foundation for Innovation’s John R.

Genomic Vision and Quest Diagnostics have agreed to extend their collaboration focusing on the potential development of new biomarkers to improve genetic diagnosis of spinal muscular atrophy. The partners will accelerate the pace of their efforts to identify new biomarkers with the possibility of detecting SMA “2+0” carrier status, referring to carriers who have two survival motor neuron 1 gene copies on one chromosome and none on the other. The identification of this rare form of mutation would lead to improved sensitivity in SMA screening. This announcement follows previous research by the two companies that demonstrated evidence that this pattern could be detected by molecular combing, a user-friendly technique that allows DNA to be analyzed at the single molecule level. Although healthy parents of a child with SMA carry the SMN1 gene defect, they do not have any symptoms of the disease. A carrier with the 2+0 pattern cannot be distinguished from a noncarrier, and test results may not reliably identify this particular carrier status. Genomic Vision has pioneered a molecular combing system that could potentially detect this pattern and reliably identify carrier status. This test stretches and assembles millions of large DNA fragments in a single step. The resulting DNA is organized in discrete strands, allowing for analysis at the single molecule level. Under the new agreement, Quest will be solely responsible for developing, validating, and offering new lab tests.

The Muscular Dystrophy Association (MDA) has asked the medical data services company IQVIA to expand its disease registry into a hub of information on seven neuromuscular conditions, including spinal muscular dystrophy (SMA). The repository will include disease information from care providers, genetics data, and patient-reported information. In addition to SMA, the…