Patricia Inacio, PhD,  science writer—

Some discouraging news for the SMA community, as, according to the results of the CARNIVAL clinical trial, Valproic acid, also known as VPA, combined with L-carnitine does not improve the survival of SMA type I patients Previous studies suggested that VPA is a potential therapeutic candidate for SMA. In the CARNIVAL Type I trial, researchers led by Boston's Massachusetts General Hospital set out to investigate the safety and therapeutic potential of VPA, combined with L-carnitine, in infants with SMA. L-carnitine is a compound involved in cellular energy production. The Phase 2 study enrolled 37 infants with SMA type I aged two weeks to 12 months from seven clinics in the United States and Canada, and one in Germany. Cure SMA and Cure SMA Canada funded the study for the North American sites. Patients completed two screening visits within a two-week period to establish disease parameters at baseline. The babies then received two daily doses of L-carnitine and VPA. Researchers measured treatment effects at three and six months and compared them to an untreated, matched disease group of 57 type I infants. They chose controls retrospectively from a larger cohort of 151 SMA type I infants enrolled in the  University of Utah's Project Cure SMA database. The study's primary endpoint was to determine the treatment's safety and adverse effects. Secondary endpoints included survival, time to death or ventilator dependence, defined as more than 16 hours of ventilator support per day. Researchers detected 245 adverse effects, mostly related to respiratory problems, in 95 percent of patients. These resulted in 14 deaths. Overall, the CARNIVAL Type I trial proves no survival benefit for infants with SMA type I treated with L-carnitine/VPA.

Anthem recently issued an updated insurance policy, expanding its coverage for the use of Spinraza (nusinersen), the first approved treatment for spinal muscular atrophy (SMA). The update revises the criteria for Spinraza in the treatment of onset of SMA-associated signs and symptoms to children younger than 21 months old. The previous…

Several experts are wondering how best to determine which spinal muscular atrophy (SMA) patients will benefit most from treatment with Spinraza (nusinersen), due both to its high cost and growing demand. Dr. Claudia A. Chiriboga, a neurology and pediatrics professor at Columbia University Medical Center, said Spinraza must be given every…

Genentech is working on the design of a Phase 3 clinical trial of olesoxime to address U.S. and European regulators’ concerns about the benefits versus the risks of the spinal muscular atrophy (SMA) therapy. Meanwhile, two Phase 2 trials of another Genentech SMA treatment, RG7916, are under way. The U.S.

Children with spinal muscular atrophy type I (SMA-I) have a tough time performing pair-matching tests, which may be related to their poor social interactions, researchers suggest. The study, “Matching pairs difficulty in children with spinal muscular atrophy type I” appeared in the journal Neuromuscular Disorders. SMA is classified in four…

During the 2015 Cure SMA Researcher Meeting, a number of novel studies focusing on Spinal muscular atrophy (SMA) were presented under the topic “Emerging Trends in Motor Neuron Pathobiology.” SMA is neurodegenerative disease caused by a genetic defect in the Smn1 gene (short for spinal motor neuron-1). This alteration results in the loss of…

Isis Pharmaceuticals, Inc. has announced that it has initiated a Phase 3 clinical trial (CHERISH) that will test the safety and efficacy of their lead drug – ISIS-SMNRx – in non-ambulatory children with spinal muscular atrophy. Spinal Muscular Atrophy (SMA) is a disease caused by mutations in the Smn1 gene that…

Isis Pharmaceuticals, Inc. and AstraZeneca announced a new partnership to develop new, more efficient delivery methods of its antisense oligonucleotides to the desired tissue. Isis is currently utilizing its antisense technology to develop ISIS-SMNRx, an experimental therapy for spinal muscular atrophy being developed in collaboration with Biogen Idec. This new…

PTC Therapeutics, Inc. announced that their collaborative program with Roche and the SMA Foundation (SMAF) for Spinal Muscular Atrophy (SMA) has begun its second phase with adult and children patients, as part of the Phase 1b/2a study. The program is evaluating the safety and tolerability of an under-investigation drug – survival of…

A study entitled “Patient with spinal muscular atrophy with respiratory distress type 1 presenting initially with hypertonia” reports a case study of a two-month-old boy with spinal muscular atrophy with respiratory distress type 1 that displayed hypertonia as an initial symptom and progressing to bone tissue compromise, a new symptom that has…