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Novartis plans to give up to 100 doses annually of Zolgensma, its costly gene therapy for spinal muscular atrophy (SMA), free-of-charge to eligible young children outside the U.S. with this progressive, neuromuscular disease. These treatments come under a global managed access program (MAP) the company runs for people with…

The parents of two babies treated in July with Zolgensma, the first gene therapy approved for spinal muscular atrophy or any neuromuscular disease, are confident they made the right choice for their girls. Both families also said they would make the same decision today, with minor adjustments.

Lowering the expression of the EphA4 gene — a gene that plays a major role in many neurological disorders — is not enough to improve motor function and survival in a mouse model of severe spinal muscular atrophy (SMA), a study has found. The study, “Lowering EphA4 Does…

Combining Spinraza with low-dose panobinostat — the active substance in an approved treatment for a blood cancer — may amplify Spinraza’s effectiveness, increasing the production of  the survival motor neuron (SMN) protein whose lack is the underlying cause of spinal muscular atrophy (SMA), an early study in cell…

The impact of spinal muscular atrophy on daily life activities and the burden for caregivers should be added to tools currently used in clinical practice to measure health-related quality of life, a review suggests. The study, “A critical review of patient and parent caregiver oriented tools to assess health-related…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

Adults with spinal muscular atrophy (SMA) type 2 and 3 tend to report a low prevalence of non-motor symptoms, a study finds. However, some of these symptoms, such as swallowing difficulties, falling, or swelling of the legs, are reported more frequently by people with SMA than…

The work-up of cerebrospinal fluid (CSF) samples from spinal muscular atrophy (SMA) patients treated with Spinraza (nusinersen) revealed mild increases in protein content, which were attributed to lumbar punctures used for testing and to the medication’s delivery by injection into the spinal canal, a study shows.

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

Spinraza (nusinersen) safely stabilizes or improves motor function in older patients with spinal muscular atrophy (SMA), according to a small U.S. real-world study. Researchers also pointed out that objective measures of meaningful improvements in daily life activities are required to better determine treatment effectiveness in this patient population.