Rare Muscle Diseases
Rare muscle diseases often baffle even seasoned clinicians, leaving diagnosis and therapy in a fog of uncertainty. Protheragen has marshaled specialized equipment and recruited top-tier muscle biologists in the hope of pinpointing both tests and treatments. With that platform in place, our wrap-around development services aim to shepherd promising drug candidates through preclinical study.
Overview of Rare Muscle Diseases
Rare muscle diseases form a clinically diverse category marked by progressive muscle weakness, degeneration, and functional impairment. Each subclass is uncommon on its own, yet the combined burden they impose on clinics is pronounced, owing to the tangled web of genetic mutations and variable clinical tableaux. Broad taxonomic divisions continue to cite muscular dystrophies, congenital myopathies, and metabolic myopathies.
Fig.1 Overview on pathophysiological mechanisms involved in fatigue and exercise intolerance in neuromuscular disorders. (Torri F, et al., 2023)
Pathogenesis of Rare Muscle Diseases
Rare muscle disorders often trace back to a mosaic of genetic glitches that sabotage essential cellular machinery. Mutations can undermine structural proteins, cripple metabolic enzymes, or throw calcium signaling into disarray. The initial breakdown sparks a storm of secondary events, including relentless inflammation, mounting oxidative damage, and the gradual takeover of fibrous tissue. Muscle wasting accelerates because regenerative efforts stall and the mitochondria lose their customary power.
Fig.2 General principles of stress response-related pathogenesis in muscular disorders. (Mensch A, Zierz S., 2020)Therapeutic Development for Rare Muscle Diseases
| Drug Name | Indications | Mechanism of Action | NCT Number | Research Phase |
| KYV-101 | Dermatomyositis | Anti-CD19 CAR-T cell therapy targeting B cells in autoimmune pathogenesis | NCT06298019 | Phase I |
| Baricitinib | Cutaneous Dermatomyositis | JAK1/2 inhibitor blocking pro-inflammatory cytokine signaling (IL-6, IFN-γ) | NCT05361109 | Phase II |
| MTP-131 | Mitochondrial Myopathy | Mitochondria-targeting peptide (elamipretide) that improves OXPHOS efficiency | NCT02367014 | Phase I/II |
| ABC008 | Inclusion Body Myositis | Anti-CD8 monoclonal antibody depleting cytotoxic T cells attacking muscle fibers | NCT05721573 | Phase II/III |
| Secukinumab | Polymyalgia Rheumatica | IL-17A inhibitor targeting Th17-mediated inflammation in muscle tissue | NCT06331312 | Phase II |
Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.
Our Services
Protheragen serves the preclinical research community by pushing the frontiers of diagnostics and targeted therapeutics for rare muscle diseases. Teams here routinely develop biomarker-based tests, including automated in vitro diagnostic (IVD) kits, while also engineering therapies aimed at the root mechanisms of rare muscle diseases. By employing next-generation disease models and running intensive validation studies, the group works to confirm that every tool is not only scientifically sound but also ready to make a difference in the clinic.
Types of Rare Muscle Diseases
| A-D | |
| Bethlem Myopathy Central Core Disease Centronuclear Myopathy Charcot-Marie-Tooth Disease Congenital Fiber-Type Disproportion Myopathy |
Congenital Muscular Dystrophy Dermatomyositis Distal Muscular Dystrophy Distal Spinal Muscular Atrophy Duchenne Muscular Dystrophy |
| E-N | |
| Emery-Dreifuss Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy Familial Periodic Paralysis Fukuyama Congenital Muscular Dystrophy Glycogen Storage Disease Type V Hyaline Body Myopathy Inclusion Body Myositis |
Limb-Girdle Muscular Dystrophy Minicore Myopathy Mitochondrial Myopathy Miyoshi Myopathy Multi-Minicore Disease Myotonic Dystrophy Nemaline Myopathy |
| O-Z | |
| Polymyalgia Rheumatica Polymyositis Rimmed Vacuole Myopathy Sarcoglycanopathies |
Scapuloperoneal Muscular Dystrophy Ullrich Congenital Muscular Dystrophy Zaspopathy Zebra Body Myopathy |
Customized Services for Rare Muscle Diseases
At Protheragen, we pioneer cutting-edge therapeutic development platforms specifically engineered for rare muscle diseases, with specialized expertise in muscle relaxant innovation.
Protheragen dedicates its efforts to constructing thorough in vitro and animal models to streamline therapeutic research concerning rare muscle diseases. Furthermore, our proficiency extends to the development of sophisticated microfluidic models of neuromuscular junctions (NMJs) and organoid-on-a-chip models, enhancing the precision and efficiency of our research endeavors in this domain.
To advance the commercialization of novel therapies for rare muscle diseases, we provide comprehensive pharmacodynamic (PD), pharmacokinetic (PK) and toxicology research services. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Torri F, Lopriore P, Montano V, et al. Pathophysiology and management of fatigue in neuromuscular diseases[J]. International Journal of Molecular Sciences, 2023, 24(5): 5005.
- Mensch A, Zierz S. Cellular stress in the pathogenesis of muscular disorders—from cause to consequence[J]. International Journal of Molecular Sciences, 2020, 21(16): 5830.