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SMA HCP News November Round-up: Risdiplam, Early Treatment, NURTURE Study

by Nisha Cooch, PhD | Nov 15, 2019

While the biggest news this week may be the success of the drug risdiplam in improving motor function in a late stage clinical trial on patients with SMA types 2 and 3,1 other important data on SMA have also been published in recent weeks. Below is a roundup of new...

Spinal Muscular Atrophy: Mid-October 2019 Roundup

by Nisha Cooch, PhD | Oct 10, 2019

The beginning of fall has seen a steady stream of new data elucidating SMA mechanisms, as well as options for managing and treating the disease. There have also been reports of evolving efforts to optimize both SMA research and clinical care, such as through a new SMA...

Spinal Muscular Atrophy: Late-September 2019 Roundup

by Nisha Cooch, PhD | Sep 26, 2019

Summer has closed with new data and news on SMA coming to the fore. Much of the research on SMA published in recent weeks has focused on how to best treat the disease, and some new debate has emerged surrounding the relative advantages of Zolgensma versus Spinraza. At...

Spinal Muscular Atrophy: June Bi-Monthly Roundup

by Nisha Cooch, PhD | Jun 18, 2019

Since our last roundup, there has been continued focus in the spinal muscular atrophy (SMA) literature how best to treat the disease. There also continues to be research geared toward understanding the biology of the disease, as well as on SMA management, what it is...

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Genetic Counselors Related SMA Resources

Patient and Parent Perspectives on the Use of...

At the end of 2016, the U.S. Food and Drug Administration (FDA) approved nusinersen for the treatment of spinal muscular atrophy (SMA).1 […]

Motor Unit Number Index as a Biomarker for Spinal...

Major challenges in the clinical care of those with spinal muscular atrophy (SMA) are determining patients’ clinical stages, […]

Eosinophilic Oesophagitis in Spinal Muscular...

Though rare, spinal muscular atrophy (SMA) does sometimes co-occur with other rare conditions. Both SMA type 2 and eosinophilic […]

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New Screening Kit Quickly and Thoroughly Analyzes SMN1, SMN2 Genes in Lab, Asuragen Says

Asuragen has launched the AmplideX PCR/CE SMN1/2 Plus Kit, which according to the company provides the most comprehensive analysis of genes […]
Prenatal Blood Test for SMA Now Available in Four Countries in Europe, BillionToOne Announces

BillionToOne’s non-invasive prenatal blood test, which helps diagnose hereditary and rare diseases in fetuses, is now available in […]
Researchers Develop Fast, Low-Cost, and Non-invasive Prenatal Screening Test for SMA

Chinese researchers have developed a fast, low-cost, and non-invasive maternal blood test for prenatal screening of spinal muscular atrophy […]
Scientists Develop New Method to Produce High Quantities of Viral Vectors for Gene Therapy

Scientists have developed a fast, efficient and economical method to create viral delivery vectors used in gene therapy to deliver modified […]

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