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.

Innovative therapeutic platform for blood-to-brain delivery of antisense oligonucleotide therapy

Antisense oligonucleotide (ASO) therapy has the potential to ameliorate many neurodegenerative diseases at the genetic level to suppress the production of harmful proteins or non-coding RNAs.

12 Aug 2021

Newborn screening and early treatment for spinal muscular atrophy can save both lives and money

Gene therapy for spinal muscular atrophy might have a high up-front price tag. But by screening and treating infants early, the therapy can save both lives and money in the long term.

4 Aug 2021

Dying patients with rare diseases struggle to get experimental therapies

At 15, Autumn Fuernisen is dying. She was diagnosed at age 11 with a rare degenerative brain disorder that has no known cure or way to slow it down: juvenile-onset Huntington's disease.

14 Jul 2021

New components for oligonucleotide drugs show safety, efficacy in treating spinal muscular atrophy

Skoltech researchers and their colleagues from Russia and the UK investigated the safety and efficacy of new chemistry in antisense oligonucleotides used to treat spinal muscular atrophy (SMA), a debilitating genetic disease.

29 Jun 2021

Intranasal COVID-19 therapeutic shows promise in preclinical trials

Researchers from the US and Denmark recently described a novel therapeutic option that targets the SARS-CoV-2 ribonucleic acid (RNA) using locked nucleic acid antisense oligonucleotides (LNA ASOs). They identified an LNA ASO that binds to the 5’ leader sequence of SARS-CoV-2 ORF1a/b. This disrupts a highly conserved stem-loop structure with nanomolar efficacy and inhibits viral replication in host cells.

20 May 2021

Researchers identify genetic cause of a rare neurological disorder

In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children's Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia.

7 May 2021

Genethon announces dosing of first patient at pediatric clinical trial platform for neuromuscular diseases

A first participant was dosed at I-Motion, the pediatric clinical trial platform for neuromuscular diseases located at Trousseau hospital in Paris, as part of the gene therapy trial in Duchenne muscular dystrophy (DMD) conducted by Genethon.

20 Apr 2021

Keele researcher awarded prestigious grant to identify treatments for devastating childhood disease

A Keele researcher will embark on a two-year study to identify affordable treatments to help children living with spinal muscular atrophy.

15 Apr 2021

Researchers evaluate new drug for spinal muscular atrophy in a broader spectrum of patients

The rarity of spinal muscular atrophy (SMA) means that promising new treatments may be tested in only a limited spectrum of patients before approval. Investigators evaluated a newly approved drug, onasemnogene abeparvovec, in a broader spectrum of patients in order to obtain expanded data on its side effects profile.

6 Apr 2021

Study: Early benefit assessment of new drugs within the framework of AM-NOG procedure

"The AMNOG procedure has passed its first practical test. It is practicable and can also be implemented in detail", emphasized IQWiG's Director Jürgen Windeler in October 2011, when the Institute had published its first early benefit assessment within the framework of the AM-NOG procedure (AMNOG = Act on the Reform of the Market for Medicinal Products).

22 Mar 2021

UC San Diego researchers launch clinical trial to test gene therapy for Alzheimer’s disease

Researchers at University of California San Diego School of Medicine have launched a first-in-human Phase I clinical trial to assess the safety and efficacy of a gene therapy to deliver a key protein into the brains of persons with Alzheimer's disease (AD) or Mild Cognitive Impairment (MCI), a condition that often precedes full-blown dementia.

18 Feb 2021

Spark Therapeutics launches gene therapy clinical trial for late-onset Pompe disease

Pompe disease is a hereditary genetic disorder caused by a deficiency of acid alpha-glucosidase leading to build-up of glycogen in the lyosomes, which then causes cell damage in various tissues, in particular the heart, the muscles, the liver and the nervous system.

3 Feb 2021

Canadian Neuromuscular Disease Registry increases patient access to research, clinical trials

The Canadian Neuromuscular Disease Registry (CNDR) was launched in 2010 to increase efficient patient access to cutting-edge research and clinical trials, to increase understanding of the natural history and epidemiology of neuromuscular disease across Canada, and to facilitate research collaboration.

3 Feb 2021

Designer DNA agent reduces myeloma stem cell abundance, lowers disease burden in mice

Many patients with multiple myeloma, a type of blood cancer, eventually develop resistance to one treatment after another. That's in part because cancer stem cells drive the disease -- cells that continually self-renew. If a therapy can't completely destroy these malignant stem cells, the cancer is likely to keep coming back.

20 Jan 2021

Replacing the RNA strand with DNA may enhance efficacy of ASO-based drugs

Antisense oligonucleotides (ASO) hold great promise for pharmacotherapy. Now, researchers at Tokyo Medical and Dental University (TMDU) and Ionis Pharmaceuticals, advancing their earlier work on a heteroduplex oligonucleotide (HDO) model, have demonstrated augmentation of ASO-based drugs by replacing the RNA strand with DNA.

5 Jan 2021

Amilorides reduce SARS-CoV-2 viral replication in vitro

A new U.S. study published on the bioRxiv preprint server reports the use of an amiloride-based scaffold that targets a viral RNA structure known to be essential in viral replication in the 5’-untranslated region (UTR) of the virus. The researchers say this heralds the application of these molecules as chemical probes to explore viral biology and produce specific antivirals targeting RNA regions of the coronavirus genome.

8 Dec 2020

Genethon to start international clinical trial for treatment of Duchenne muscular dystrophy

Genethon, dedicated to designing and developing gene therapy products for rare diseases, received this Monday 30th of November the authorization from the ANSM, the French National Agency for Medicines and Health Products Safety, to start in France a multicentre international clinical trial for the treatment of Duchenne muscular dystrophy with product GNT 004.

2 Dec 2020

Researchers develop telomerase gene therapy for treating different pathologies

After several years of research and many joint scientific publications, molecular biologists Maria Blasco (National Cancer Research Centre, CNIO) and Fàtima Bosch (Universitat Autònoma de Barcelona, UAB) have developed a telomerase gene therapy for the treatment of different pathologies related to shortening telomeres and, therefore, ageing.

2 Dec 2020

Study finds how the brain 're-wires' after neurological disease

Trinity College researchers are studying how the brain re-wires itself in neurological disease.

24 Nov 2020

Study implicates new gene as driver of motor neuron diseases

Failures in a quality control system that protects protein-building fidelity in cells can lead to motor neuron degeneration and related diseases, according to a new study from an international team co-directed by Scripps Research molecular biologist Claudio Joazeiro, PhD.

16 Sep 2020