Neuromuscular

The National Organization for Rare Disorders is home base for more than 300 member organizations that serve not just patients, but providers who care for those with rare disorders, such as SMA and Duchenne muscular dystrophy.

Zolgensma, an adeno-associated virus vector-based, one-time gene therapy administered via intravenous infusion, is the first and only FDA-approved gene therapy for SMA.

The Director of the Multiple Sclerosis and Hereditary Neuropathy Centers at Seton Hall-Hackensack Meridian School of Medicine shared insight into what clinicians should know about Charcot-Marie-Tooth disease.

The chief medical officer and head of Research & Development at Ovid Therapeutics spoke about what prompted the development of this scale to measure improvement for patients with Fragile X syndrome, and possibly other conditions.

An MDA panel has stated that accessibility of advanced screening, the introduction of effective treatment, and the support of professional organizations could, and should, prompt the expansion of newborn screening.

Ultimately, the risk of peripheral neuropathy increased by an estimated 3% for each additional day of current fluoroquinolone exposure, maintained for up to 180 days post-exposure.

The amifampridine tablets are the first approved therapy specifically indicated for the treatment of pediatric patients with LEMS, a rare autoimmune disorder with neuromuscular symptoms caused by affected nerve connections and muscle weakness.

Enough evidence to support further evaluation in a phase 3 trial in myasthenia gravis has been collected from these new phase 2 data of zilucoplan, formerly known as RA101495 SC.

The director of Child and Adolescent Psychiatry at Mount Sinai Health System spoke about the results of the phase 2 study of OV101 (gaboxadol), and the next steps for the phase 3 trial.

The investigators observed a dose-dependent reduction of mutant huntingtin concentration in the cerebrospinal fluid of patients who received HTTRX, supporting the launch of a confirmatory phase 3 trial.

The treatment was efficacious in patients with AQP4-IgG-positive NMOSD, which accounts for nearly three-quarters of the population with the disorder, for which there is currently no approved treatment.

The phase 2 STARS trial was the first time in 50 years that an overall improvement in patients with Angelman syndrome was observed, in this instance with a once-daily dose of gaboxadol, also known as OV101.

In a pair of phase 2 trials and a phase 1 study, patients with SMA types 1 and 2 treated with the gene therapy displayed a number of motor milestone achievements and a prolonged event-free survival rate.

Interim results of the phase 1/2 study show statistically significant reductions in SOD1 protein levels in cerebrospinal fluid, suggesting lower concentrations in the brain and spinal cord, as well.

Changes in MS diagnostic criteria and the availability of highly effective DMTs has deemed the risk for postpartum relapse nearly irrelevant for the majority of patients with MS.