Author Archives: Magdalena Kegel

Arm cycling training increased spinal muscular atrophy type 2 patients’ endurance and improved their results on movement tests, a small pilot study indicated. Despite researchers’ expectations, the training had no effect on patients’ levels of SMN protein or other factors that could help counter the disease. Nonetheless, the team at Hacettepe…

AveXis plans to launch clinical trials of its gene therapy AVXS-101 in a wider range of spinal muscular atrophy (SMA) patients — mirroring the company’s belief that the treatment may also benefit those with milder forms of the disease. The planned studies include one enrolling presymptomatic patients with…

The U.S. Food and Drug Administration has given AveXis a list of information it needs to consider approving AVXS-101 as a treatment for spinal muscular atrophy Type 1. Company officials met with regulators to discuss the results of a Phase 1 clinical trial (NCT02122952) of the gene therapy. They also discussed…

Although Spinraza has the potential to change the course of spinal muscular atrophy, a number of ethical challenges revolve around its use, a group of American researchers argues. In an article in the journal JAMA Pediatrics, they maintained that the healthcare system needs to address six issues to ensure that SMA patients “benefit from treatment, are protected from harm, and are treated fairly.” The title of the piece is “Ethical Challenges Confronted When Providing Nusinersen Treatment for Spinal Muscular Atrophy,” The group, led by Dr. Alyssa M. Burgart of Stanford University, said the biggest challenge is cost. Spinraza's pricetag is $750,000 the first year, and $375,000 each year thereafter. A cost that hefty can make insurers reluctant to cover the treatment, the group said. It also creates the possibility of hospitals bearing partial or full costs if an insurer refuses to re-imburse them. In fact, this is a major reason why some hospitals are not offering Spinraza (nusinersen) treatments, the team wrote. A second ethical challenge is the possibility that people with similar levels of disease severity will receive different treatments because of cost. This generates "concerns for the just distribution of healthcare," the scientists wrote. While unequal health insurance coverage is an inherent flaw of the U.S. healthcare system, Spinraza's enormous cost makes the problem particularly daunting. Healthcare insurers and hospitals are not the only ones bearing the cost burden, the team wrote. The lifelong cost of the therapy may force families to opt out of treatment or become impoverished. The second ethical challenge is dealing with limited information on Spinraza's long-term effectiveness. Since Spinraza trials involved small patient samples and were relatively short term, the verdict is out on whether most patients will benefit long term. It is also not clear if the improvements seen in the trials will translate into improvements in muscle strength and function when doctors treat patients.   While patients and their families may be prepared to accept these uncertainties, health insurers may not be. This may lead to situations in which insurers approve a treatment only if patients can prove with arbitrarily determined measurements that it is effective. Limited access to such testing may further disadvantage a patient, the team argued. In addition, there is no agreement on what a treatment benefit is. This has a bearing on a third ethical issue — informed consent. If a treatment is failing to provide benefits, a doctor may decide that it should be dropped. Since there is no consensus on what a treatment benefit is, patients, families and physicians may find themselves holding differing views on the issue. The best way to deal with this is to discuss it before a patient starts treatment, the team contended.

A faulty molecular transport process could explain how loss of a protein leads to the death of movement nerve cells that is seen in spinal muscular atrophy, a study reports. The key may be movement nerve cell projections’ inability to grow, Ohio State University researchers said. The projections, known as axons,…

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,…

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…

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…