NeurologyLive® Year in Review 2022: Top Stories in Neuromuscular Disorders

The NeurologyLive^® staff was hard at work in 2022, covering clinical news and data readouts from all over the United States and beyond, across a number of key neurology subspecialty areas. Between the major study publications and FDA decisions, and traveling to societal conference sessions to conduct expert interviews, the team spent all year bringing the latest news and updates to the website's front page.

Among our key focus areas is neuromuscular disorders, a field that has experienced perhaps its most rapid period of progress in the past 2 years, with large steps forward in genetic medicine, in particular. Although major news items—such as first-time approvals or new guidelines—often appear among the top pieces our team produces, sometimes smaller stories reach those heights for other reasons, such as clinical impact and interest, or concerns about other facets of care, for example. Whatever the reason for the attention these stories got, their place here helps provide an understanding of the themes in this field over the course of 2022.

Here, we'll highlight some of the most-read content on NeurologyLive^® this year. Click the buttons to read further into these stories.

1. Vaccinated Individuals With Myasthenia Gravis With COVID-19 Infection are More at Health Risk

According to a recent population-based study presented by Monica de Carvalho Alcantara, MD, PhD, at the 2022 American Association of Neuromuscular & Electrodiagnostic Medicine Annual Meeting, using administrative health data in Ontario, Canada, adult participants with myasthenia gravis and who also contracted COVID-19 were twice the risk of hospitalization of matched controls. The patients with MG and infected with COVID-19 were also more at risk of ICU admission and death in comparison.

2. Losmapimod Shows Significant Effect on Facioscapulohumeral Muscular Dystrophy Despite Unchanged Biomarkers

Results presented at the 2022 American Academy of Neurology (AAN) Annual Meeting by Nicholas Johnson, MD, MSc, FAAN, from the phase 2b ReDUX4 trial (NCT04003974) showed statistically significant slowing of muscle function deterioration in patients with facioscapulohumeral muscular dystrophy who were treated with losmapimod (Fulcrum Therapeutics), despite no changes in DUX4, the biomarker related to the cause of the disease.

3. FDA Pauses Tolebrutinib Trials in MS, Myasthenia Gravis Over Liver Injuries

This summer, the FDA placed a partial clinical hold on Sanofi's phase 3 clinical trials for tolebrutinib, its Bruton tyrosine kinase inhibitor being evaluated for the treatment of multiple sclerosis and myasthenia gravis, based on reported cases of drug-induced liver injury in patients who received the study drug in the ongoing trials.

4. Sanofi Initiates Phase 2 HIMALAYA Study of SAR443820 in Amyotrophic Lateral Sclerosis

Sanofi initiated dosing of SAR443820, its central nervous system penetrant small-molecule RIPK1 inhibitor, in the phase 2 HIMALAYA study (NCT05237284) in individuals with amyotrophic lateral sclerosis in May 2022. The phase 2 study is still recruiting and has an estimated enrollment of 260 patients, and has a 2-part design.

5. AMX0035 Approved for the Treatment of ALS

In September, the FDA approved Amylyx Pharmaceuticals’ AMX0035, a coformulation of sodium phenylbutyrate-taurursodiol, for the treatment of amyotrophic lateral sclerosis. The drug is marketed as Relyvrio and became the third approved therapy to help slow disease progression or mortality in ALS, following riluzole (Rilutek) in 1995 and edaravone (Radicava; MT Pharma) in 2017.

6. PXT3003 Aims to Become First Approved Therapeutic for Charcot-Marie-Tooth Disease

PXT3003 (Pharnext SA), a novel fixed-dose synergistic combination of baclofen, naltrexone, and sorbitol, is being evaluated in the pivotal phase 3 PREMIER study (NCT04762758) of patients with Charcot-Marie-Tooth disease type 1a, a neurological disease for which there are no curative or symptomatic medications approved.

7. FDA Extends Review of Omaveloxolone in Friedreich Ataxia

In August, the FDA communicated to Reata Pharmaceuticals that it had extended the review period for the company’s new drug application for omaveloxolone, an investigational agent for the treatment of Friedreich ataxia, as a result of newly submitted supportive data. The Prescription Drug User Fee Action date has been moved 3 months and is now set for February 28, 2023.

8. Repetitive Nerve Stimulation Exhibits Positive Association with Inpatient Diagnosis of Myasthenia Gravis

Results from confirmatory antibody testing in myasthenia gravis are often delayed, but the approach of using repetitive nerve stimulation has shown the potential of being more effective in rapidly confirming a diagnosis of MG in the inpatient setting, according to study results presented by Katherine Clifford, MD, at the 2022 American Association of Neuromuscular & Electrodiagnostic Medicine Annual Meeting.

9. Trofinetide as an Option for Rett Syndrome Treatment

After the FDA approved an NDA for trofinetide for Rett syndrome in September, study investigator Jeffrey L. Neul, MD, PhD, shared his insight into what is currently known about trofinetide, how it may affect the paradigm of care, and the supporting data from the phase 3 LAVENDER study (NCT04181723).

10. Troriluzole Shows Promise in Spinocerebellar Ataxia Type 3 Subgroup Despite Failing to Achieve Primary End Point

Findings from a phase 3 study (NCT03701399) evaluating troriluzole (Biohaven Pharmaceuticals), an investigational therapy to treat spinocerebellar ataxia, showed that the agent failed to reach statistical significance on its primary end point; however, there were numerical treatment benefits observed in a subgroup of those with SCA type 3.