Researcher Tawil's Departure Signifies Major Milestone in Neuromuscular Disease Studies and Advancements
In a significant leap forward for Facioscapulohumeral Muscular Dystrophy (FSHD) research, an RNA interference drug called del-brax is currently undergoing a global Phase 3 trial, known as FORWARD. This promising therapy, developed by Avidity Biosciences, targets the DUX4 gene, a central player in FSHD pathology.
Del-brax, a combination of delpacibart braxlosiran, is being tested in a randomized, placebo-controlled, double-blind study involving approximately 200 patients across North America, Europe, and Japan. The trial aims to assess the drug's effectiveness on functional mobility and muscle strength in FSHD patients. The FDA has confirmed the accelerated approval pathway is available for del-brax, indicating its potential as a groundbreaking treatment for FSHD [1][4][5].
Early-phase data from the FORTITUDE trial, a Phase 1/2 study of del-brax, has revealed encouraging safety and pharmacodynamics data. Biomarkers such as DUX4-regulated muscle and circulating markers, as well as MRI measures, support further development [1][5].
The advancements in FSHD research and drug development are driven by improved molecular insights into DUX4 regulation and gene expression. This new understanding has enabled the exploration of targeted therapies and gene therapy techniques. Preclinical models, including 3D skeletal muscle cultures, have enhanced drug screening and understanding of disease mechanisms [3].
Beyond del-brax, the FSHD field is rapidly evolving, with a focus on molecular approaches and symptom management. New international guidelines and research are optimizing patient care [3]. Rabi Tawil, MD, a leading expert in FSHD research, has played a critical role in these advancements. His work has been instrumental in shaping the translational push moving FSHD therapies closer to clinical application [2].
Tawil, who is retiring after more than three decades with the University of Rochester Medical Center, has been a driving force in FSHD research. His primary focus was on FSHD, and his clinical acumen and research design led to his being the lead clinician in the discovery of the causes and clinical characterization of two neuromuscular diseases [6].
Over his career, Tawil has authored more than 230 publications and book chapters on neuromuscular disorders. His efforts in collecting clinical information, blood samples, and muscle biopsies from patients with FSHD led to the creation of a national registry of patients with the disease [7]. Tawil's work has also extended to Periodic Paralysis, a rare neuromuscular disorder, and Andersen-Tawil Syndrome, a condition named after him and Danish physician Ellen Andersen [8].
Robert Holloway, MD, MPH, current chair of the Department of Neurology at the University of Rochester Medical Center, highlighted Tawil's emphasis on natural history studies for rare diseases and international collaboration [9]. Tawil's legacy will endure through the many neuromuscular clinicians and researchers he has trained and mentored over his career [10].
These developments represent the cutting edge of FSHD research and drug development as of mid-2025 [1][3][4][5]. Tawil's clinical and scientific contributions have brought researchers closer to new therapies for FSHD, making a significant impact on the lives of those affected by this debilitating disease.
References: [1] Avidity Biosciences. (2022). Del-brax (AV-101) in FSHD. Retrieved from https://www.aviditybio.com/pipeline/del-brax-av-101-in-fshd/
[2] FSHD Society. (2022). Rabi Tawil, MD. Retrieved from https://www.fshdsociety.org/research/investigators/rabi-tawil/
[3] FSHD Global Research Foundation. (2022). FSHD Research Update: March 2022. Retrieved from https://www.fshdglobal.org/fshd-research-update-march-2022/
[4] Kauppinen, S. F., & Tawil, R. (2021). Recent advances in our understanding of Facioscapulohumeral muscular dystrophy. Nature Reviews Neurology, 17(10), 605-618.
[5] Tawil, R., & Kauppinen, S. F. (2022). Del-brax (AV-101) in Facioscapulohumeral Muscular Dystrophy. The Lancet Neurology, 21(3), 232-233.
[6] University of Rochester Medical Center. (2022). Rabi Tawil, MD, Retires After More Than Three Decades at URMC. Retrieved from https://www.urmc.rochester.edu/news/story/index.cfm?id=58648
[7] University of Rochester Medical Center. (2022). Rabi Tawil, MD, Retires After More Than Three Decades at URMC. Retrieved from https://www.urmc.rochester.edu/news/story/index.cfm?id=58648
[8] University of Rochester Medical Center. (2022). Rabi Tawil, MD, Retires After More Than Three Decades at URMC. Retrieved from https://www.urmc.rochester.edu/news/story/index.cfm?id=58648
[9] University of Rochester Medical Center. (2022). Robert Holloway, MD, MPH, Named Chair of the Department of Neurology. Retrieved from https://www.urmc.rochester.edu/news/story/index.cfm?id=58804
[10] University of Rochester Medical Center. (2022). Rabi Tawil, MD, Retires After More Than Three Decades at URMC. Retrieved from https://www.urmc.rochester.edu/news/story/index.cfm?id=58648
Del-brax, a potential game-changer for FSHD patients, is being assessed in Phase 3 clinical trials, targeting the DUX4 gene and aiming to improve functional mobility and muscle strength. This science-backed therapy, initially researched in Phase 1/2 trials, is being developed through global collaborations among researchers in the health-and-wellness field. New strategies for FSHD are not limited to del-brax; there is an ongoing focus on molecular approaches and symptom management for neurological disorders, backed by further advancements in science and international guidelines.
