A new molecular compound, called LDN-2014, increases and stabilizes the levels of the survival motor neuron (SMN) protein, improving clinical outcomes in mouse models of mild and severe forms of spinal muscular atrophy (SMA), a study reports. The study, “Intraperitoneal delivery of a novel drug‐like compound improves disease severity in severe…
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Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…
For people with spinal muscular atrophy (SMA), psychological well-being is not driven by socioeconomic factors or even illness characteristics. Instead, patients closely relate it to being content with their ability to participate in activities, and to their sense of autonomy, competence, and relatedness, researchers report. Their article, “…
Researchers have developed a platform called SMArtCARE that allows prospective monitoring of all spinal muscular atrophy patients regardless of their current treatment. The technology has the potential to shed new light on the disease’s natural history and medication’s influence. A description of the project was published in…
When caring for a child with spinal muscular atrophy (SMA), health care staff do not make treatment decisions without informing parents, but there’s still room for improvement to provide information about the disease, treatment options, and prognosis for parents to feel confident about their decisions, a Danish survey reports. The research…
Visitors to the Clinic for Special Children (CSC) just outside Strasburg, Pennsylvania, might be forgiven for thinking they’ve made a wrong turn. Hidden at the end of a long, winding driveway off Bunker Hill Road, the clinic, which serves the Amish and Mennonite communities of Lancaster County and beyond, looks…
The U.S. Food and Drug Administration (FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history — how disorders such as spinal muscle atrophy (SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical…
A research team in Korea created an in vitro, or laboratory, model to screen and validate medicines that aim to treat spinal muscular atrophy (SMA) by promoting protein production by the SMN2 gene. The system is based on the use of a special cell line as well as stem cells…
The American Society of Gene and Cell Therapy (ASGCT) has unveiled a new online resource designed to keep patients, caregivers, and the public apprised of the latest in gene and cell therapies, including those intended for spinal muscular dystrophy (SMA). Gene Therapy 101 is the organization’s debut…
The U.S. Food and Drug Administration approved the six-minute walk test (6MWT) as an acceptable primary endpoint, or goal, for a potential registration program of the investigational treatment reldesemtiv for spinal muscular atrophy (SMA) patients who are able to walk. In the feedback provided to therapy developer Cytokinetics, the agency…
