News

The U.S. Food and Drug Administration (FDA) has given AveXis the green light to launch a Phase 1 study of its gene therapy, AVXS-101, in children with spinal muscular atrophy (SMA) Type 2. In contrast to the company’s earlier study in Type 1 SMA children, who received the treatment intravenously,…

Envisagenics has raised a total of $2.35 million to continue working to discover RNA-based therapies for diseases linked to RNA splicing errors, such as spinal muscular atrophy. The company uses an innovative platform that couples RNA splicing analysis with artificial intelligence. The biotechnology company's drug discovery platform, called SpliceCore, aims to develop therapeutics that correct splicing errors in RNA — the molecule that, along with DNA, gives the instructions to make all the proteins required for our cells to function. Errors in RNA splicing — a natural process cells use to generate a variety of RNA molecules by simply arranging the building blocks that compose the RNA molecule in different ways — are the cause of more than 300 genetic diseases, including SMA. With RNA splicing analysis, researchers are able to analyze millions of RNA sequence codings and identify RNA splicing errors. The most plausible and likely targets for treatments, after being validated in experiments using patients’ data, are then identified by artificial intelligence. With a target identified, researchers can then design a tailored drug and investigate its action, or how well it might work, using the SpliceCore's modular platform. The money was raised in what is called seed capital round, in which an investor funds a company in exchange for an equity stake in it.

Researchers have identified the process by which small compounds enable the production of the full SMN2 protein by effectively regulating how the gene is read, according to a study published in Nature Communications. This finding suggests that these compounds may represent a new therapeutic option for spinal muscular atrophy…

Preimplantation genetic diagnosis may help couples prevent the risk of having a child with spinal muscular atrophy (SMA). The case report “The clinical application of preimplantation genetic diagnosis to prevent spinal muscular atrophy in a Chinese family: A case report” was published in the Journal of the Neurological…

Parents of children with spinal muscular atrophy (SMA) advise healthcare professionals to be more mindful of professional-family relations, improve and be willing to share their knowledge about SMA, and to treat parents as experts in the care of their own child, a questionnaire study conducted in Sweden reports. The study,…

Cytokinetics’ new muscle activator compound shows promising safety, tolerability, and effectiveness in three early clinical trials in healthy volunteers. The data supports the ongoing Phase 2 trial of the drug in patients with spinal muscular atrophy. Importantly, the findings indicate that the therapy is better tolerated and more potent than the company’s earlier muscle activator, tirasemtiv. CK-212 7107 is an investigational next-generation therapy that Cytokinetics is developing in collaboration with Astellas Pharma. The compound aims to act as a muscle activator by slowing calcium signaling in so-called fast skeletal muscle fibers. The drug was explored in three separate Phase 1 trials, adding to data from two earlier studies. The studies showed that CK-212 7107 triggered a muscle force more than double of that seen with tirasemtiv. All three trials also concluded that the drug was relatively well tolerated — all adverse events were mild or moderate. Laboratory values, neurological examinations, vital signs, brain waves, walk tests, and blood oxygen levels were all normal after the treatment. Researchers also concluded that higher doses gave rise to higher blood concentrations of the drug — a desirable feature of any new drug. CK-212 7107 is currently being assessed in a Phase 2 trial in patients with SMA types 2–4. The trial is still recruiting participants in the U.S. and Canada. Interested patients can find more information, including contact details, at the trial’s registration page. The drug is intended for the treatment of patients with muscle fatigue or weakness. In addition to SMA, the compound is being tested in Phase 2 trials in patients with ALS, elderly people with mobility limitations, and patients with COPD.

A study of the natural course of spinal muscular atrophy (SMA) type 1 supports the idea that treatment should be attempted as early as possible — further supporting arguments on the need for newborn screening in this disease. While considerable research indicates that early treatment is most…

The majority of people that completed a U.K. survey support the idea of newborn screening for spinal muscular atrophy (SMA), according to a report published in the journal Molecular Genetics & Genomic Medicine. With Spinraza (nusinersen) now available as an SMA treatment option, people in favor of screening believe…

Canon BioMedical is offering researchers a simplified method to see if a person has gene abnormalities associated with spinal muscular atrophy. The company’s Novallele copy number assays can determine whether the SMN1 gene has been deleted. It can also determine the number of copies of the SMN2 gene. The…

Catalyst Pharmaceuticals is launching a proof-of-concept Phase 2 trial of its investigational drug Firdapse (amifampridine phosphate), intended to relieve symptoms in ambulatory patients with spinal muscular atrophy (SMA) type 3. If the treatment proves effective and safe in this group, which will include about 12 patients, Catalyst plans…