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 links spinal muscular atrophy disease expression with haplotypes

A natural history study has provided the first comprehensive clinical description of spinal muscular atrophy within the Amish and Mennonite communities and correlates ancestral chromosome 5 haplotypes and SMN2 copy number with disease severity.

7 Sep 2018

SMA treatment may be effective even if started in children seven months and older

A drug shown to be effective in the treatment of babies with the rare muscle-wasting disease spinal muscular atrophy may be effective for muscle control even when treatment is started in children seven months and older, according to a study published in the August 29, 2018, online issue of Neurology, the medical journal of the American Academy of Neurology. Previous studies focused on children younger than seven months old.

30 Aug 2018

Alternative method identified for delivering nusinersen to spinal muscular atrophy patients

A new report has identified an alternative method to deliver nusinersen to patients with spinal muscular atrophy using a subcutaneous intrathecal catheter system configured by connecting an intrathecal catheter to an implantable infusion port.

24 Aug 2018

Study findings highlight importance of early detection of SMA through newborn screening

Spinal muscular atrophy is a genetic disease that affects motor neurons in the spinal cord, resulting in muscle atrophy and widespread weakness that eventually impair swallowing and breathing.

17 Jul 2018

Researchers find novel ways to improve participation in clinical research

Videos and creative uses of other visuals provide a novel way to obtain informed consent during clinical trials to improve participants' understanding and retention of trial information, according to a study by Nemours Children's Health System presented at the American Thoracic Society (ATS) Annual Conference.

25 May 2018

Scientists discover how potential new drug targets spinal muscular atrophy

Spinal muscular atrophy (SMA) is a genetic disease that can leave infants with weak muscles and trouble breathing. Many with the disease die before age two. To help these patients, doctors need therapies that target the genetic mutation and stop its progression.

8 May 2018

Therapeutic RNA corrects error in genetic processing that leads to familial dysautonomia

Scientists at Cold Spring Harbor Laboratory have identified a therapeutic RNA molecule that corrects the error in genetic processing that leads to familial dysautonomia, a rare inherited neurodegenerative disorder.

30 Apr 2018

Investigational drug may help increase protein levels in babies with spinal muscular atrophy

A preliminary study suggests that an investigational drug may help increase protein levels in babies with spinal muscular atrophy. The open-label study is released today and will be presented at the American Academy of Neurology's 70th Annual Meeting in Los Angeles, April 21 to 27, 2018.

19 Apr 2018

Scientists discover basic molecular mechanism that helps understand how ALS works

It took eight long years of research, but now an international team led by neuroscientists at Université de Montréal has discovered a basic molecular mechanism that better helps understand how Lou Gehrig's disease, or amyotrophic lateral sclerosis (ALS), works.

19 Mar 2018

Impaired transport processes in neurons contribute to neurodegenerative disorders

Two partners have to find their way to each other in order to transport substances to the remote ends of special nerve fibers to maintain their function. If this partnering process is disturbed, the cells may die in the worst case, resulting in neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS) or spinal muscular atrophy.

9 Mar 2018

Researchers develop method to identify splicing-based biomarkers for liver cancer

Because liver cancer is particularly diverse, genetically, and prone to relapse, identifying biomarkers that can predict disease progression is a critical goal in the fight against it.

2 Mar 2018

New medication improves motor function in children with later-onset spinal muscular atrophy

Children with later-onset spinal muscular atrophy (SMA) were more likely to show gains in motor function when treated with a new medication compared to children receiving a sham procedure, according to a study published today in the New England Journal of Medicine.

15 Feb 2018

Scientists uncover the structure of microtubule motor proteins

Researchers from The Scripps Research Institute have discovered new information about how motor proteins called dyneins interact with another protein called dynactin to transport molecules to different parts of a cell.

12 Feb 2018

UNC gene therapy scientists uncover viral barcode to penetrate blood-brain barrier

Gene therapies promise to revolutionize the treatment of many diseases, including neurological diseases such as ALS. But the small viruses that deliver therapeutic genes can have adverse side effects at high doses.

11 Feb 2018

Researchers discover gene network that regulates the motor neuron development in growing embryo

UCLA researchers have discovered the inner workings of a gene network that regulates the development of spinal motor neurons in the growing chicken and mouse embryo.

2 Feb 2018

Researchers describe severe toxicity with AAV9-based high-dose gene therapy in animal models

Researchers have described severe, life-threatening toxicity in monkeys and piglets given high doses of gene therapy delivered using an adeno-associated virus (AAV9) vector capable of accessing spinal cord neurons.

30 Jan 2018

Newborn screening for SMA favored by most people, study finds

Research from the University of Warwick indicates that most people are in favor of newborn screening for the potentially deadly condition spinal muscular atrophy (SMA).

6 Dec 2017

Massachusetts grabs spotlight by proposing new twist on Medicaid drug coverage

In the absence of new federal policies to tame break-the-bank drug prices, Massachusetts’ state Medicaid program hopes to road-test an idea both radical and market-driven. It wants the power to negotiate discounts for the drugs it purchases and to exclude drugs with limited treatment value.

21 Nov 2017

MDA announces 13 new research grants to advance treatment for neuromuscular diseases

The Muscular Dystrophy Association today announced 13 new research and development grants totaling $3.5 million to accelerate the development of treatments for muscular dystrophy, ALS and related life-threatening diseases.

14 Nov 2017

Drug can safely and effectively help infants with SMA gain muscle function, study shows

More than half of the babies with infantile-onset spinal muscular atrophy (SMA) who were treated with nusinersen (Spinraza) gained motor milestones, compared to none of the babies in the control group. Infants treated with the drug also had 63 percent lower risk of death.

6 Nov 2017