Spinal Muscular Atrophy News and Research

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Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of death among infants and toddlers. Characterized by selective loss of nerve cells in the spinal cord, the disease leads to increasing muscular weakness and atrophy. Over time, patients afflicted by SMA continue to lose muscle control and strength, leading to progressive inability to walk, stand, sit up and breathe. It is estimated that approximately 1 in 6,000 to 1 in 10,000 infants are born annually worldwide with SMA.

Study reveals link between alterations in RNA splicing and Alzheimer's disease

A collaborative study published today in the journal Cell Reports provides evidence for a new molecular cause for neurodegeneration in Alzheimer's disease.

8 Oct 2019

Medical professional offers unique perspective as father of a child with rare movement disorder

From a professional standpoint, Nathan Hoot, MD, PhD, understands the value of medical research that leads to new, groundbreaking drugs in the treatment of rare diseases.

1 Oct 2019

Scientists move one step closer to discovering the causes of immune diseases

Scientists are one step closer to discovering the causes of immune diseases such as asthma, multiple sclerosis and arthritis

23 Sep 2019

Faster, cheaper, better: improved gene therapy tool production

The heart of modern therapy is increasingly personalized and targeted at specific cellular or genetic deficits. This requires gene therapy, in many cases. A new study, published on 19 September 2019 in the journal Nature, describes an improved way to produce purified gene carrier viruses called AAVs cheaply and quickly, from the culture medium.

22 Sep 2019

BUSM researchers develop advanced protocol to improve gene therapy tool production

A method to create a faster and lower cost alternative for a gene therapy tool has been developed by Boston University School of Medicine researchers.

19 Sep 2019

Study: Gene editing may correct genetic mutation responsible for Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a rare but devastating genetic disorder that causes muscle loss and physical impairments.

18 Sep 2019

Statement related to data inaccuracies with newly approved gene therapy

As a public health agency, we believe that it is critical to facilitate the development of innovative safe and effective medical products, like the cellular and gene therapy products that have shown enormous potential to treat previously untreatable diseases.

7 Aug 2019

New vaccine shows promise against toughest HIV strains

A new study reports successful immunization against a so-far invincible “death star” strain of an HIV-related laboratory virus (SIVmac239) and another tough strain. The new approach also achieves long-term protection with a single dose, showing that gene therapy could allow broad and durable protection, based on a modified form of the CD4 protein that allows HIV entry into human cells.

24 Jul 2019

BIA Separations selected to support AveXis’ gene therapy pipeline

BIA Separations, a leading biochromatography development and manufacturing company, today announced it is collaborating with AveXis, a Novartis company, to enhance the commercial purification process for its gene therapy pipeline, beginning with Zolgensma (onasemnogene abeparvovec-xioi), the first U.S. Food and Drug Administration-approved gene therapy indicated for the treatment of pediatric patients with spinal muscular atrophy (SMA) who are less than two years of age.

22 Jul 2019

Newly approved gene therapy for SMA is based on delivery vehicle discovered by Penn expert

James Wilson, MD, PhD, recalls being struck by the devastating toll of rare diseases as a young physician in the 1980s. He set out on a path to correct the genes that cause these conditions, including spinal muscle atrophy (SMA), the most common inherited fatal disease in infants.

25 May 2019

Quanterix’ Simoa technology powers more than 85 percent of Neurofilament light biomarker research to be unveiled at American Academy of Neurology Annual Meeting

Quanterix announce that its ultra-sensitive Simoa technology is the driving force behind 36 of the 42 Nf-L abstracts being presented at AANA.

From Quanterix 6 May 2019

$150,000 grant will support research on spinal muscular atrophy

EL PASO, Texas-Cure SMA recently awarded a $150,000 research grant to Laxman Gangwani, Ph.D., associate professor of Molecular and Translational Medicine, Center of Emphasis in Neurosciences, at TTUHSC El Paso's Paul L. Foster School of Medicine.

2 May 2019

Unique gene therapy approach paves new way to tackle rare, inherited diseases

Nonsense mutations are single-letter errors in the genetic code that prematurely halt the production of critical proteins. These unfinished proteins are unable to function normally, and nonsense mutations cause 10-15 percent of all inherited genetic diseases, including Duchenne muscular dystrophy, spinal muscular atrophy, cystic fibrosis and polycystic kidney disease.

19 Feb 2019

New form of therapy may stop or reverse progressive vision loss

A new form of therapy may halt or even reverse a form of progressive vision loss that, until now, has inevitably led to blindness.

1 Nov 2018

Biogen and Eisai present detailed results from phase 1b study of aducanumab at CTAD meeting

Biogen and Eisai Co., Ltd. announced that Biogen presented results at the Clinical Trials on Alzheimer's Disease meeting, in Barcelona, Spain, from the recent 36- and 48-month analyses of the ongoing long-term extension of the Phase 1b study of aducanumab, an investigational treatment for mild cognitive impairment due to Alzheimer's disease and mild AD.

29 Oct 2018

Novartis: Lancet publishes pioneering study of Aimovig’s efficacy in episodic migraine patients

Novartis announced today that the full data from the LIBERTY study of Aimovig (erenumab) in episodic migraine patients who had tried and failed two to four prior preventive treatments have been published in the Lancet.

23 Oct 2018

Genentech announces clinical data from studies investigating risdiplam in spinal muscular atrophy

Genentech, a member of the Roche Group, announced today interim clinical data from the dose-finding parts of the pivotal FIREFISH and SUNFISH studies investigating risdiplam in spinal muscular atrophy.

3 Oct 2018

Researchers discover how nerve cells control movement

Researchers at Karolinska Institutet in Sweden have discovered a new way in which nerve cells can control movement. In a study on zebrafish published in the journal PNAS they show that the contact between neurons and muscles is more dynamic than previously thought.

3 Oct 2018

Urine exRNA may be source of biomarkers for muscular dystrophy

Massachusetts General Hospital researchers have found that extracellular RNA in urine may be a source of biomarkers for the two most common forms of muscular dystrophy, noninvasively providing information about whether therapeutic drugs are having the desired effects on a molecular level.

26 Sep 2018

Biogen and Eisai announce results of LTE Phase 1b study of aducanumab for treating MCI

Biogen and Eisai Co., Ltd. announced results from a recent analysis of the ongoing long-term extension Phase 1b study of aducanumab, an investigational treatment for mild cognitive impairment due to Alzheimer's disease and mild AD dementia.

24 Sep 2018