More than 90% of rare diseases have no federally sanctioned treatment. So when news came of an approved new therapy for spinal muscular atrophy (SMA), Zolgensma, celebrations abounded. But as is often the case, questions soon followed: Where is the medicine available? How do we deal with insurance companies?…
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A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…
The anti-epileptic medicine Keppra (levetiracetam) may have a neuroprotective effect for spinal muscular atrophy (SMA), according to a recent study. The study, “The Protective Effects of Levetiracetam on a Human iPSCs‑Derived Spinal Muscular Atrophy Model,” was published in the journal Neurochemical Research. Spinal muscular atrophy (SMA) is characterized…
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…
A small RNA molecule called miR-23a can prevent neuron degeneration and muscle wasting by acting as a protective modifier in cellular and animal models of spinal muscular atrophy (SMA), a study says. The study, “AAV9-Mediated Delivery of miR-23a Reduces Disease Severity in Smn2B-/SMA Model Mice,” was published in…
Elevated levels of the protein alpha-COP, involved in cellular transport and self-cleansing processes, extended survival in a mouse model of severe spinal muscular atrophy (SMA) without altering levels of the survival motor neuron (SMN) protein, according to a recent study. These results suggest this protein can modify SMA,…
People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…
Ontario has expanded publicly funded access to Spinraza (nusinersen) to cover spinal muscular atrophy (SMA) types 2 and 3. The decision specifically covers presymptomatic patients with two or three copies of the SMN2 gene; patients with SMA for less than six months, two SMN2 copies, and…
Tina and Torence Anderson’s sixth and youngest child, Malachi, came into the world on July 31, 2015. “When he was born, he was normal,” Tina said in a phone interview with SMA News Today. But eight weeks later,…
Now that the U.S. Food and Drug Administration has given its blessing to the AveXis gene therapy Zolgensma for children up to 2 years old with spinal muscular atrophy, the company hopes to win similar approval from the European Medicines Agency (EMA) later this year. AveXis,…
