Rare Neurodegenerative Diseases
Rare neurodegenerative diseases encompass a group of disorders characterized by the progressive degeneration of the nervous system, often leading to severe and debilitating symptoms. With our deep expertise in rare neurodegenerative diseases therapy development, Protheragen is well positioned to provide tailored solutions and comprehensive support to facilitate your journey from therapy research to commercialization.
Introduction to Rare Neurodegenerative Diseases
Rare neurodegenerative diseases represent a group of debilitating disorders characterized by progressive neuronal loss, leading to cognitive, motor, and functional decline. These diseases are often caused by genetic mutations and exhibit unique pathological features, including protein aggregation, synaptic dysfunction, and brain iron deposition. Clinically, they manifest as severe neurological impairments such as movement disorders, dementia, and early death, and currently available treatment options are limited.
Fig.1 Pathogenesis and treatment of five neurodegenerative diseases. (Gadhave D G, et al., 2024)
Pathogenesis of Rare Neurodegenerative Diseases
Rare neurodegenerative diseases arise from complex interactions between genetic mutations and cellular dysfunction, leading to progressive neuronal death. These disorders typically involve protein misfolding, mitochondrial impairment, oxidative stress, and neuroinflammation, which collectively disrupt neural circuitry. Many diseases display characteristic pathological features, such as polyglutamine expansion in triplet repeat disorders, prion-like protein proliferation, or lysosomal storage defects. The resulting synaptic failure and network degeneration manifest as movement disorders, cognitive decline, and premature death.
Fig.2 Initiation-progression hypothesis of neurodegenerative diseases. (Tanaka M, et al., 2020)
Therapeutic Development for Rare Neurodegenerative Diseases
| Drug Name | Indications | Mechanism of Action | NCT Number | Research Phase |
| SAR110894 | Alzheimer's Disease | Selective histamine H3 receptor antagonist enhancing neurotransmitter release (dopamine, acetylcholine) | NCT01266525 | Phase II |
| SOM3355 | Huntington's Disease | VMAT2 inhibitor regulating dopamine neurotransmission | NCT03575676 | Phase II |
| RO7234292 | Huntington's Disease | Antisense oligonucleotide targeting mutant huntingtin (HTT) mRNA to reduce toxic protein production | NCT03761849 | Phase III |
| VTX3232 | Parkinson's Disease | Small molecule stabilizing normal prion protein and inhibiting misfolding | NCT06556173 | Phase II |
| ION717 | Prion Disease | Antisense oligonucleotide targeting MAPT mRNA to reduce tau protein production | NCT06153966 | Phase I/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
As a professional preclinical research service provider, Protheragen is dedicated to accelerating breakthroughs in the field of rare neurodegenerative diseases. We offer end-to-end solutions encompassing diagnostic development, novel therapeutic development, precise disease modeling, and rigorous preclinical validation. Our blood-brain barrier model enables critical assessments of drug permeability in the central nervous system (CNS), ensuring optimal brain exposure while minimizing systemic toxicity, thus expediting the development of effective therapies.
Types of Rare Neurodegenerative Diseases
| A-K | |
| Alzheimer's Disease Creutzfeldt-Jakob Disease Frontotemporal Dementia |
GM2 Gangliosidosis Huntington's Disease Krabbe Disease |
| L-Z | |
| Parkinson's Disease Prion Diseases Unverricht-Lundborg Syndrome |
Wolfram Syndrome Multiple System Atrophy Machado-Joseph Disease |
Therapeutic Development Services
By Mechanism of Action
Disease Model Development Services
In Vitro Model Development
At Protheragen, we are committed to validating and optimizing therapies for mixed motor neuron diseases through preclinical studies including pharmacodynamics (PD), pharmacokinetics (PK) and toxicology to ensure their successful regulatory approval. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Gadhave D G, Sugandhi V V, Jha S K, et al. Neurodegenerative disorders: Mechanisms of degeneration and therapeutic approaches with their clinical relevance[J]. Ageing research reviews, 2024: 102357.
- Tanaka M, Toldi J, Vécsei L. Exploring the etiological links behind neurodegenerative diseases: Inflammatory cytokines and bioactive kynurenines[J]. International Journal of Molecular Sciences, 2020, 21(7): 2431.