Spinal Muscular Atrophy News and Research

RSS

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 examines safety and early outcomes of gene therapy for spinal muscular atrophy

In May 2019, the U.S. Food and Drug Administration approved a gene replacement therapy for the inherited, progressive neuromuscular disease 5q-linked spinal muscular atrophy.

25 Aug 2020

FDA approves first oral drug for treatment of spinal muscular atrophy

The U.S. Food and Drug Administration today approved Evrysdi (risdiplam) to treat patients two months of age and older with spinal muscular atrophy (SMA), a rare and often fatal genetic disease affecting muscle strength and movement.

7 Aug 2020

Researchers develop new therapeutic approach to treat CLN3 Batten disease

Researchers led by a team at Rosalind Franklin University of Medicine and Science have devised a new therapeutic approach to treating a rare but deadly neurodegenerative genetic disease in children.

31 Jul 2020

C-Path gets positive response from FDA for drug-induced skeletal muscle injury safety biomarkers

Critical Path Institute announced today that the Biomarker Qualification Program at the Center for Drug Evaluation and Research in the U.S. Food and Drug Administration issued a positive response to the Letter of Intent developed by C-Path's Predictive Safety Testing Consortium and Duchenne Regulatory Science Consortium, for a panel of four safety biomarkers of acute drug-induced skeletal muscle injury.

23 Jul 2020

New editorial published following adverse events of gene therapy clinical trial

The Editor-in-Chief of Human Gene Therapy, the first journal devoted to the field of gene therapy, and one of the world's leading experts on gene therapy have co-authored a new editorial, Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy, in response to the news of two deaths in a now-halted gene therapy clinical trial.

3 Jul 2020

Developing Vaccines and Therapeutics by Exploiting Structure in Spherical Nucleic Acids

An interview discussing the use of spherical nucleic acids (SNAs) and what they show about the importance of structure in pharmaceutical development.

From Pittcon 2 Jul 2020

Researchers develop a potential treatment approach for Pelizaeus-Merzbacher disease

A team led by Case Western Reserve University medical researchers has developed a potential treatment method for Pelizaeus-Merzbacher disease (PMD), a fatal neurological disorder that produces severe movement, motor and cognitive dysfunction in children.

1 Jul 2020

Researchers identify new molecules to study specific glial cells integral to synapses

While the brain is composed of two types of cells, glia tend to receive far less attention for their importance in brain function and disease than the more celebrated neurons.

26 Jun 2020

New therapeutic approach for Parkinson’s and other neurodegenerative diseases

Xiang-Dong Fu, PhD, has never been more excited about something in his entire career. He has long studied the basic biology of RNA, a genetic cousin of DNA, and the proteins that bind it. But a single discovery has launched Fu into a completely new field: neuroscience.

25 Jun 2020

German researchers recommend early screening and treatment for spinal muscular atrophy

The advent of therapeutic interventions for spinal muscular atrophy (SMA) has increased the importance of presymptomatic diagnosis and treatment. When to start treatment in children with less severe disease remains controversial.

11 Jun 2020

Newborn screening for spinal muscular atrophy promises a benefit

On behalf of the Federal Joint Committee, the Institute for Quality and Efficiency in Health Care investigated whether it is meaningful to test newborns in Germany for spinal muscular atrophy in combination with earlier diagnosis and treatment.

6 Apr 2020

New form of gene editing slows ALS progression in mice

With a new CRISPR gene-editing methodology, scientists from the University of Illinois at Urbana-Champaign inactivated one of the genes responsible for an inherited form of amyotrophic lateral sclerosis - a debilitating and fatal neurological disease for which there is no cure.

26 Feb 2020

New breakthrough offers hope for potential treatment of rare childhood epilepsy

Seizure disorders in babies are frightening and heartbreaking. A new basic science breakthrough offers hope for a potential treatment for rare developmental and epileptic encephalopathies resulting from a single genetic mutation.

20 Feb 2020

Outcomes-based drug reimbursement may be on the horizon, report says

How can pharma and life sciences be prepared and agile enough to respond to future challenges if it has not thought about the current trends and emerging challenges?

10 Feb 2020

Successful gene therapy trial in patients with X-linked Chronic Septic Granulomatosis

American and British teams led by Drs Kohn (University of California, Los Angeles), Malech (NIH), Williams (Boston Children's) and Trasher (Great Ormond Street Institute of Child Health) published yesterday in Nature Medicine the conclusive results of a gene therapy trial conducted in the United States and Great Britain in 9 patients with X-linked Chronic Septic Granulomatosis (X-CGD), a rare and severe immune dysfunction. Six of them are free of treatment for complications generated by the disease.

28 Jan 2020

Study identifies molecular 'bridge' between ALS-causing genes

The enzyme Gemin3 was identified as the molecular 'bridge' between genes whose mutation or disruption causes amyotrophic lateral sclerosis, according to a new study in Nature's Scientific Reports from scientists at the University of Malta.

16 Jan 2020

Dog study suggests that AAV in gene therapy could induce cancer

A gene therapy study in dogs has stirred up old fears that by using AAV in gene therapy, it may be increasing cancer chances.

8 Jan 2020

Neuroscientists develop new method for uniquely targeted gene therapy

Neuroscientists at Lund University in Sweden have developed a new technology that engineers the shell of a virus to deliver gene therapy to the exact cell type in the body that needs to be treated. The researchers believe that the new technology can be likened to dramatically accelerating evolution from millions of years to weeks.

13 Dec 2019

Splicing factor enhances ability of triple negative breast cancers to grow and metastasize

If your DNA is a cookbook, a single gene is a recipe. But it's a flexible recipe that if edited one way can make a pie; edited another way can make a cake. And that difference can mean cancer, as a team of researchers who looked at those gene editors writes in the 26 November issue of Cell Reports.

26 Nov 2019

Adult SMA patients treated with Nusinersen show improvement in motor function

A study published in the Journal of Neuromuscular Diseases presents the first evidence of mild improvement or stabilization of motor and respiratory function in adults with spinal muscular atrophy type 3 (SMA3) treated with Nusinersen, which was the case even in patients who have had the disease for 20 years or more.

11 Nov 2019