News

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…

The National Organization for Rare Disorders (NORD) says it’s “disappointed and dismayed” after the House of Representatives voted 227-205 last week to repeal the Orphan Drug Tax Credit as part of a U.S. tax reform package. A similar package before the Senate Finance Committee does not repeal the credit…

Spinal muscular atrophy advocates have asked American regulatory officials to add SMA to the list of genetic conditions the federal government thinks newborns should be screened for. The request came in a meeting between the advocates and the government’s Advisory Committee on Heritable Disorders in Newborns and Children on Nov. 8.

Defects in our cells’ natural cleaning system — called autophagy — may be a trigger for the development of motor neuron diseases such as spinal muscular atrophy (SMA), researchers at the University of Würzburg, Germany, suggest. Their study, “Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron…

Researchers from Northeastern University’s Center for Complex Network Research in Boston showed for the first time that they can predict and accurately identify the brain mechanisms involved in movement control, in an animal model. These findings may provide new insights on the cellular mechanism involved in spinal muscular atrophy (SMA) and other movement disorders. Using worms (Caenorhabditis elegans) as a model to better understand the human brain, the team demonstrated that a mathematical model they developed could characterize all the connections the worms needed to control movement. A team of researchers attempted to understand how the human brain controls each of its communication mechanisms. Taking advantage of the simple neurological system of worms, the team mapped all communications between neurons and muscles, and developed what it called the “connectome." Based on this model, they predicted which specific cells would regulate each of the worm's  movements. Working with researchers at the Medical Research Council in Cambridge, England, the team validated its predictions. By killing the individual nerve cells with a laser previously related to each movement, they showed how the worm would lose that specific movement. This study demonstrates for the first time that it may be possible to pinpoint the mechanisms and individual cells involved in movement control. Translating the worm model into the human brain may change the lives of SMA patients and others with movement disorders.

A Phase 3 clinical trial to evaluating the safety and efficacy of an investigational gene replacement therapy by AveXis is now recruiting infants with spinal muscular atrophy type 1. The trial of AVXS-101 is seeking patients younger than six months of age. Participants must have a genetic mutation analysis confirming SMA type 1 diagnosis, according to a news release from the Muscular Dystrophy Association. AVXS-101 is designed to specifically deliver the fully functional human SMN gene to motor neurons, which SMA patients lack. This will restore normal levels of survival motor neuron protein in these nerve cells, allowing them to properly control muscle activity and improve strength and function. Results of a Phase 1 study showed that the motor functions of babies with SMA type 1 show clinically meaningful improvements after one single intravenous infusion. Eight of the 15 infants treated with AVXS-101 were able to sit without assistance and two could crawl, stand or walk independently — all abilities never seen in untreated SMA infants. The U.S. Food and Drug Administration has granted AVXS-101 Orphan Drug Designation to treat all types of SMA. AVXS-101 has also received Breakthrough Therapy Designation and Fast Track Designation to treat SMA Type 1. Both will speed up the drug's clinical development and potential approval. The STR1VE study is an open-label Phase 3 trial to evaluate the impact of AVXS-101 on children’s development and overall survival. It will likely include 15 infants with genetically confirmed non-functional SMN1 gene, but with one or two copies of the SMN2 gene. The study — to be conducted at clinics in California, Colorado, Illinois, Maryland, New York, Ohio and Oregon — will evaluate patients' capacity to sit by themselves at 18 months of age, as well as their ability to breathe without additional support upon receiving one injection of AVXS-101. All required clinical visits, tests and additional treatments will be provided to participants at no cost, as well as travel assistance for families who don't live near any of the study sites. For additional information on the STR1VE trial, please visit the study website or the study registry page. To participate, contact the trial coordinator at the nearest site.