NeurologyLive® Year in Review 2023: Most Watched Interviews in Neuromuscular Disorders

In 2023, the NeurologyLive^® team spoke with hundreds of physicians, clinicians, and researchers, and posted hundreds of hours of interview clips. The staff spoke with neurologists, investigators, advanced practice providers, physical therapists, advocates, patients, pharmacists, and industry experts—anyone involved in the process of delivering clinical care.

These conversations were had with individuals from around the globe, both virtually and in person. The team attended more than a dozen annual meetings of medical societies, each time sitting down with experts on-site to learn more about the conversations driving care and the challenges being overcome.

From those in the field of neuromuscular medicine, there was much to discuss, and thus we dove into a slew of topics that were key to keeping clinical care up to date. Those conversations covered things like novel treatments for rare diseases, the introduction of genetic and cellular medicines to the pipeline, and the challenges that still need to be overcome in genetic neuromuscular disease, among many other topics.

Here, we'll highlight the most-viewed expert interviews on NeurologyLive^® this year. Click the buttons to watch more of our conversations with these experts.

1. Results on Efgartigimod for Chronic Inflammatory Demyelinating Polyneuropathy Treatment: Richard Lewis, MD

The professor of neurology at Cedars-Sinai Medical Center talked about findings from the ADHERE trial assessing efgartigimod, a human IgG1 antibody Fc fragment, as a treatment for patients with chronic inflammatory demyelinating polyneuropathy.

WATCH TIME: 6 minutes

"This trial shows that immunoglobulin G plays a very important role in a significant number or probably a majority of patients with CIDP. So we're learning a little bit more about the pathogenesis of the disease based on the trial."

2. Turning Gene Therapy Into Reality: Peter Marks, MD, PhD

The director of the Center for Biologics Evaluation Research at the FDA provided an overview of the Keynote Address he gave at the 2023 Muscular Dystrophy Association Clinical and Scientific Conference.

WATCH TIME: 3 minutes

"Another is how to move them [gene therapies] through clinical trials in a relatively facile manner, making use of what we have at our disposal at the agency, which is things like the use of accelerated approval."

3. Revolutionizing Treatment For Duchenne Muscular Dystrophy with Gene Editing: Courtney Young, PhD

The co-founder and chief executive officer of MyoGene Bio talked about the advantages of gene editing over traditional gene therapy as a long term treatment for neuromuscular diseases at MDA’s 2023 conference.

WATCH TIME: 3 minutes

“In general, the idea of gene therapy being able to revolutionize disease, both for root gene replacement, but other ways of delivering other things [is particularly exciting for me]. Using gene therapy to deliver CRISPR and using it to deliver ways to inactivate proteins to replace larger genes by creating overlapping sequences that can recombine. I think the idea of targeting the underlying cause of disease is what's going to be revolutionary for the field.”

4. Understanding Drug Interactions, Treg Dysfunction in ALS: Stanley Appel, MD

The director of the Ann Kimball & John W. Johnson Center for Cellular Therapeutics at Houston Methodist provided insight on previously approved therapies for ALS, and whether they can work synergistically with agents that enhance regulatory T cells function.

WATCH TIME: 5 minutes

"We’re decreasing the inflammatory pathway in the cell that is making the T-reg dysfunctional. If you enhance the T-regs with IL-2 injection, rather than by growing out the cells, and you use it in combination with something that’s suppressing the activated myeloid cells, macrophages, etc., that combination we believe is meaningful."

5. Results of Clinical Trials for CNM-Au8, A Potential ALS Treatment: James Berry, MD, MPH

The director of the Massachusetts General Hospital ALS Care Center talked about CNM-Au8 treatment across three populations, as well as the HEALEY ALS Platform Trial, at the 2023 AAN annual meeting.

WATCH TIME: 5 minutes

"The main takeaway from that study was really that there was actually a difference in survival and those who started the drug early were randomized to the drug rather than placebo, although everybody went on to have drug during an open label phase of that trial."

6. The Development of New Gene Therapies to Address Unmet Needs in ALS: Matthew B. Harms, MD

The associate professor of neurology at Columbia University spoke at the 2023 MDA conference about the unmet needs of patients with ALS and the potential of new gene therapies.

WATCH TIME: 5 minutes

“I think [one] unmet need in this field is trying to speed diagnoses. Patients diagnosed earlier in the disease, when few motor neurons have already been lost, are able to save more of the ones that are there are still in a healthier state. Additional funding and efforts to very closely identify and follow patients who are carrying ALS gene mutations is another unmet need.”

7. Key Details of Phase 3 ORION Study of AMX0035 in Progressive Supranuclear Palsy: Gunter Hoglinger, MD

The professor of neurology and translational neuroscientist at Ludwig-Maximillian’s University Munich discussed the reasons behind specific inclusion criteria and outcomes used in the phase 3 ORION study of AMX0035 in progressive supranuclear palsy.

WATCH TIME: 4 minutes

"The most important aspects when choosing patients for this trial is to have specificity for the underlying neurobiology. We know that possible and probably patients with Richardson syndrome, as diagnosed by the MDS criteria, have a high specificity of more than 90% to have an underlying tau pathology."

8. Advances in Gene Therapy for Neuromuscular Diseases: Kevin Flanigan, MD

The director of the center for gene therapy at Nationwide Children's Hospital talked about the challenges and opportunities of gene therapies for neuromuscular diseases at the 2023 MDA conference.

WATCH TIME: 4 minutes

“Despite the success we've had so far like with spinal muscular atrophy, there's still a lot of challenges. The full safety and efficacy profile for the newest gene therapies for Duchenne muscular dystrophy is not yet clear. We do anticipate that there will be continued issues of safety that we have to address in the long term.”

9. Overcoming the Challenges of Ultra Rare Diseases, Limb Girdle Muscular Dystrophy: Peter Kang, MD

At the 2023 MDA conference, the professor of neurology at the University of Minnesota talked about the current understanding and challenges of Limb Girdle muscular dystrophy from a clinical perspective.

WATCH TIME: 5 minutes

“A lot of patients with Limb Girdle muscular dystrophy can get diagnoses, including genetic diagnoses. But there's a persistent subset of patients who can't and have not been able to get definitive genetic diagnoses, which is really frustrating for those patients.”

10. Clinical Application of Induced Pluripotent Stem Cells in Muscular Dystrophy: Rita Perlingeiro, PhD

The Lillehei professor in stem cell and regenerative cardiovascular medicine at the University of Minnesota talked about the potential of investigating induced pluripotent stem cells in neuromuscular diseases at MDA’s 2023 conference.

WATCH TIME: 5 minutes

“We have demonstrated in many studies that the (induced pluripotent stem [iPS]) cells must be transplanting animal models of muscular dystrophy. We are able to generate healthy muscle that's functional, and the cells are able also to see the stem cell, which is very important for long term regeneration.”

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.