Neuromuscular

Data from a national cohort has shown a 48% rate of confirmed symptomatic fractures, which the authors suggested was expected to be a large underestimation of the real frequency in the DMD patient population.

Your patient is a former linebacker with recently diagnosed amyotrophic lateral sclerosis, who asks if football injuries caused his disease. What will you tell him?

The study author, a pediatric neurologist at Baylor College of Medicine and director of the Blue Bird Circle Rett Center at Texas Children’s Hospital, spoke about the investigational Rett syndrome treatment’s potential going forward.

Of the 5 syndrome-specific efficacy measurements, trofinetide showed statistical benefits for patients with Rett syndrome on the Rett Syndrome Behavior Questionnaire, Clinical Global Impression Scale-Improvement, and the RTT Clinician Domain Specific Concerns-Visual Analog Scale.

SYROS study data showed that switching to and maintaining long-term treatment with idebenone was associated with a 50% reduction in the annual rate of decline in forced vital capacity percent of predicted.

With a pair of sBLAs under FDA review, the Allergan treatment may finally have an official indication for use in spasticity after years of off-label use by physicians.

Study results suggest that no difference in outcomes of function, survival, fatigue, or quality of life are seen between those undergoing intensive or standard exercise regimens.

Scientists find that Schwann cells protect nerves against blood clotting factors that cause degeneration.

Ned Sharpless, MD, the director of the National Cancer Institute, has been named to the position of acting FDA Commissioner. The announcement was made just a week after the current commissioner, Scott Gottlieb, MD, announced his plans to resign in early April.

Neurology News Network for the week of March 9, 2019.

The Allergan product was granted Priority Review for upper limb spasticity and is expected to be decided on in the second quarter of 2019, while the lower limb indication will have its evaluation by the fourth quarter.

After showing success in older infants with SMA, risdiplam is now being evaluated in adults—something that’s never been done in a controlled trial of SMA.

Despite being labeled as rare diseases, a number of neurologic conditions impact more patients than most would believe. The consultant with expertise in ophthalmology, gene therapy, and rare and orphan diseases, chimed in about how these diseases can often be overlooked.

The pediatric critical care medicine attending physician in the Department of Anesthesiology and Critical Care Medicine at the Children’s Hospital of Philadelphia spoke about how physicians can better address brain death in pediatric patients.

Neurology News Network for the week of February 23, 2019.

Over the past several years, scientific teams have developed investigational methods for delivering a gene to correct a mutation in the DMD gene which causes DMD by creating dysfunction in a patient’s dystrophin production.

The professor of neurology and pediatrics at Columbia University Irving Medical Center spoke about the success of the small molecule in older infants with SMA, and about what she’s looking forward to in the future of SMA treatment.

The investigational drug candidate, formerly known as CK-2127107, is the subject of the phase 2b FORTITUDE-ALS trial, which is assessing the effect of reldesemtiv compared with placebo on respiratory function and additional measures of skeletal muscle function.

The professor of neurology and pediatrics at Columbia University Irving Medical Center spoke about the treatment’s success thus far and its potential to treat infants with more severe disease.

The framework consists of 2 documents that expand on the agency’s plans for its risk-based approach for describing drugs, devices, and biologics, including those designated as regenerative medicine advanced therapies.

The professor in the Department of Neurology at Klinikum Wels-Grieskirchen, in Wels, Austria, spoke about the anti-CD20 antibody and its potential to treat patients with MG.

The therapy, which has a PDFUA date of Aug. 19, 2019, is being studied in an ongoing phase 3 study.

The chief medical officer of Cytokinetics spoke about the promise that the investigational fast skeletal muscle troponin activator holds as a potential treatment for spinal muscular atrophy.

Neurology News Network for the week of February 14, 2019.

At the final follow-up at an average of 20 months, remission was present in 42.9% of the 56 patients included, and an additional 25% had minimal manifestations or better as measured by the Myasthenia Gravis Foundation of America-Postintervention Status.

The director of the mitochondrial research program at Akron Children’s Hospital spoke about how to best manage a condition such as PMM, where there are no FDA-approved therapies.

The study provided Class I evidence that the ALSDI can help the confirmation and diagnosis of ALS and its mimicking conditions at the earliest stages of the disease, when therapeutic efforts are most efficacious.

The microdystrophin gene transfer therapy from Solid Biosciences has shown protein expression in the first 3 patients dosed. As a result, the company is expediting the planned dose-escalating activities.

The professor of pediatrics at Northeast Ohio Medical University and the director of the NeuroDevelopmental Science Center at Akron Children’s Hospital provided insight into the therapeutic landscape of PMM.

A phase 3 trial of the therapy is ongoing after a number of positive signs from earlier assessments. Thus far, the tetrapeptide has shown potential to become the first treatment for PMM.