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February 15, 2019February 15, 2019

ArcherDX Enters Newborn Screening Market with Baby Genes Acquisition

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ArcherDX is expanding its product portfolio with newborn and screening tests to identify carriers of genetic variants linked to different disorders, including cystic fibrosis, spinal muscular atrophy, and fragile ... Read more

February 14, 2019February 15, 2019

Scotland Opens Spinraza to All SMA Patients Using Its Public Health System

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Scotland has joined the growing roster of countries making the spinal muscular atrophy (SMA) therapy Spinraza available to patients at low or no cost through that country’s public health system. ... Read more

February 13, 2019February 14, 2019

New Compound Improves Clinical Outcomes in Mouse Models of SMA, Study Shows

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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 ... Read more

February 11, 2019

Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide

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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 ... Read more

February 11, 2019February 11, 2019

Sense of Well-Being Tied to Ability to Take Part in Life and Engage with Others, SMA Patients Say

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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 ... Read more

February 8, 2019February 12, 2019

New SMArtCARE Online SMA Registry Will Gather Patient Data

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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 ... Read more

February 4, 2019February 4, 2019

Parents Informed About Treatment for Their SMA Children, But Still Want Better Communication with Health Care Staff, Survey Shows

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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 ... Read more

January 31, 2019February 4, 2019

Rural Pennsylvania Clinic Treats Amish, Mennonite Children Who Have SMA

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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 ... Read more

January 30, 2019February 5, 2019

FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases

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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 ... Read more

January 28, 2019February 4, 2019

New Screening Process May Speed Work on SMN2 Splicing Approaches to Treat SMA, Study Says

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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 ... Read more

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