With increasing insurance coverage and AveXis’ plans to broaden access to older spinal muscular atrophy (SMA) patients, the U.S. Food and Drug Administration (FDA) remains “very confident” in the use of Zolgensma despite preclinical data concerns, according to an official from the agency. Cure SMA…
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Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
Russia has become the first of the 15 former Soviet republics to approve Biogen’s Spinraza (nusinersen) to treat spinal muscular atrophy (SMA). In its decision, the Russian Health Ministry noted that much more data exists on Spinraza’s benefits for patients 17 years and younger than for those 18…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
The biopharmaceutical company Cytokinetics and the nonprofit organization Cure SMA have announced a renewal of their partnership. The partnership aims to increase education and awareness for spinal muscular atrophy (SMA), as well as to promote public policy and fundraising efforts that support people who are living with…
Although damage to motor neurons characterizes spinal muscular atrophy, problems with lipid (fat) metabolism are an important feature of SMA that should be addressed to minimize the risk of heart and liver disease related to high levels of fatty molecules in people with the disorder, a study found. Complications due to poor …
A new and faster genetic test for spinal muscular atrophy (SMA), called SMA STAT, will be offered free of charge in the U.S. as part of the SMA Identified program. According to Biogen and Invitae Corporation, SMA STAT reduces the time for a definitive SMA diagnosis — through…
An alternative form of intrathecal (via the spinal canal) injection, called a transforaminal puncture, is a safe and effective way of delivering Spinraza (nusinersen) to spinal muscular atrophy patients whose scoliosis makes standard spinal injections difficult, according to real-world data from the Phoenix Children’s Hospital. The study, “The Complex…
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…
Online forums have markedly altered how patients, caregivers, and healthcare professionals communicate and connect. Even when miles apart, individuals can establish supportive relationships, share experiences and information, and sometimes just vent. Bionews Services, a leading online health, science, and research publication company, has been rolling out its…
