Rare Neurological Diseases
Protheragen leads the way in diagnostic and therapeutic advancements for rare neurological diseases. Leveraging state-of-the-art technology platforms and profound expertise, our dedicated scientists are focused on pioneering the creation of innovative in vitro diagnostic (IVD) tools and groundbreaking therapies. Our mission is to simplify the management of these intricate diseases through the development of novel solutions.
Rare neurological diseases are a class of diseases that affect the nervous system and are characterized by a low prevalence in the population. These diseases often lead to a variety of debilitating symptoms, such as cognitive impairment, motor function decline, and mental abnormalities. Rare neurological diseases can be divided into the following categories:
- Rare neurodevelopmental disorders affect the development of the nervous system, resulting in developmental delays, intellectual disabilities, and behavioral disorders.
- Rare neurodegenerative diseases are characterized by the gradual degeneration of neurons in the central nervous system.
- Rare neuroinflammatory diseases involve inflammation of the nervous system, which may be autoimmune or infectious in nature.
- Rare neurometabolic diseases feature interruptions in metabolic pathways that impact neurological function.
- Rare neuropsychiatric diseases involve the interplay of neurological and psychiatric symptoms, leading to complex manifestations.
Pathogenesis of Rare Neurological Diseases
A comprehensive understanding of the pathogenesis of rare neurological diseases is crucial for the development of effective therapeutic methods and intervention strategies. The following are several key factors that contribute to the onset of rare neurological diseases.
- Genetic Mutations
Mutations in key genes involved in neural development, function, or maintenance can lead to abnormal cellular processes and neuronal dysfunction. For instance, mutations in genes encoding for proteins essential in myelin formation, such as in Pelizaeus-Merzbacher disease, can result in impaired nerve signal transmission and neurological deficits.
- Neuroinflammation
Neuroinflammation, characterized by immune activation in the central nervous system, is a common feature in several rare neurological diseases. In conditions like multiple sclerosis (MS) or neuromyelitis optica (NMO), dysregulated immune responses target the nervous system, leading to inflammation, demyelination, and neuronal damage.
- Metabolic Dysfunction
Disruptions in cellular metabolism can have profound effects on neuronal health and function, leading to energy deficits, accumulation of toxic metabolites, and oxidative stress. Disorders like mitochondrial encephalopathies or lysosomal storage diseases exemplify the impact of metabolic abnormalities on neurological function.
Fig. 1 Interactions between glial cells and immune cells in Parkinson's
disease. (MacMahon Copas A N, et al., 2021)
Therapeutic Development of Rare Neurological Diseases
In recent years, significant advancements have been made in the therapeutic development for rare neurological diseases, driven by the emergence of innovative therapeutic approaches. The utilization of gene therapy, enzyme replacement therapy, small molecule drugs, and protein-based therapies like monoclonal antibodies has propelled progress in the field. According to the report analysis, the rare neurological disease therapeutic market is expected to grow from $9.63 billion in 2023 to $16.4 billion in 2032, with a projected compound annual growth rate (CAGR) of approximately 6.09%.
Table. 1 Marketed drugs for rare neurological diseases.
| Drugs | Types of Therapy | Targeted Diseases | Developmental Stage |
| Eteplirsen | Exon Skipping Therapy | Duchenne Muscular Dystrophy (DMD) | Marketed |
| Ocrelizumab | Monoclonal Antibody | Multiple Sclerosis | Marketed |
| Inotersen | Antisense Oligonucleotide | Hereditary TTR Amyloidosis | Marketed |
| Soliris | Complement Inhibitor | Neuromyelitis Optica Spectrum Disorder | Marketed |
Our Services
Our company is dedicated to providing top-tier services to advance the diagnostic and therapeutic development of rare neurological diseases. We specialize in creating precise in vitro and in vivo models and are committed to conducting comprehensive preclinical drug research to drive the commercialization of breakthrough therapies.
Disease Model Development Services
In Vitro Models
- Primary Neuronal Cultures
- Dopaminergic Neuron Cultures
- Cerebral Organoids
- Spinal Cord Organoids
- Gliovascular Microfluidic Models
- Blood-Brain Barrier (BBB) Microfluidic Models
- Synaptic Plasticity Microfluidic Models
Animal Models
- Brain Injury Models
- Spinal Cord Injury Models
- Peripheral Nerve Injury Models
- Transgenic Models
- Knock-in Models
- Knock-out Models
- Overexpression Models
- MPTP-Induced Models
Therapeutic Development Services
By Molecule Types
By Mechanism of Action
- Neuroprotective Agent Development
- Glutamate Modulator Development
- Anti-Inflammatory Drug Development
- Antioxidant Development
- Protein Misfolding Inhibitor Development
- Excitotoxicity Inhibitor Development
Diverse Disease Research Areas
- Rare Neurodevelopmental Disorders
- Rare Neurodegenerative Diseases
- Rare Neuroinflammatory Diseases
- Rare Epileptic Syndromes
- Rare Neurometabolic Diseases
- Rare Neuropsychiatric Diseases
At our company, our team of dedicated scientists focuses on conducting pharmacology, pharmacokinetic (PK), and toxicology studies tailored for rare neurological diseases. We are committed to ensuring the efficacy and safety of drugs through meticulous research and analysis.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- MacMahon Copas A N, McComish S F, Fletcher J M, et al. The pathogenesis of Parkinson's disease: a complex interplay between astrocytes, microglia, and T lymphocytes?[J]. Frontiers in neurology, 2021, 12: 666737.