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An abnormal buildup of fat in the liver, referred to as fatty liver disease, was found to be common in a small group of children and adults with spinal muscular atrophy (SMA), regardless of their disease type or severity. Patient-derived liver cells confirmed that such accumulation was a…
Standardized measures to track the severity of spinal muscular atrophy (SMA) don’t adequately capture aspects of the disease that have major impacts on patients and their families, such as fatigue and the need for medical appointments that can be challenging to schedule, a study reports. “This study provides…
Most children with spinal muscular atrophy (SMA) treated with Spinraza (nusinersen) in a real-world setting had normal lab test results on measures of treatment safety, according to a new analysis. “These data should provide useful information for clinicians to assess the safety of [Spinraza] therapy in the…
A combination genetic therapy approach designed to restore more normal activity of the SMN1Â gene improved motor function and prolonged survival in a spinal muscular atrophy (SMA) mouse model. Called Gene-DUET, it involves supplementing the body with additional healthy SMN1Â genetic material, an approach similar to the approved gene therapy…
Spinal muscular atrophy (SMA) may involve changes that occur before birth, during an embryo’s development in the womb, and not just after an infant is born, a study in cell structures suggests. This could mean that combining available disease-modifying treatments with medications that address early changes could help better…
August is Spinal Muscular Atrophy (SMA) Awareness Month, and patients, caregivers, doctors, researchers, and other supporters are coming together to improve disease knowledge, patient advocacy, and research funding to help find a cure for the rare genetic condition. SMA is a neuromuscular disorder that affects the nerve cells, or…
Three years of treatment with apitegromab, a muscle-targeting therapy being developed by Scholar Rock, continues to provide clinical benefit to children and young adults with spinal muscular atrophy (SMA) type 2 or 3 who are not able to walk. That’s according to long-term results from the open-label…
The prevalence of spinal muscular atrophy (SMA) at birth in the U.S. is lower than the historic global SMA birth prevalence estimate, according to data from newborn screening programs from 30 U.S. states. The findings were published as a research letter, “Newborn Screening and Birth Prevalence for…
In people with spinal muscular atrophy (SMA) treated with Spinraza (nusinersen), levels of pro-inflammatory signaling molecules tend to decrease while levels of anti-inflammatory signaling molecules tend to increase in the months after starting treatment, a study has found. Findings also suggested that changes in certain inflammation-regulating molecules…
When a person lives in a home where they need help with everyday activities, they usually have an in-home caregiver or live in an assisted community. It is preferable that they are able to live in their home with help, as it increases comfort and a sense of independence,…
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