Rare Neurometabolic Diseases
Given the heterogeneity of clinical manifestations and the difficulty of early diagnosis of rare neurometabolic diseases, Protheragen is committed to providing cutting-edge diagnostic and therapeutic development solutions to meet the challenges of rare neurometabolic disease management. As your reliable partner for rare neurometabolic disease treatment research, we provide comprehensive and high-quality services to meet all your scientific research needs.
Introduction to Rare Neurometabolic Diseases
Rare neurometabolic diseases encompass a group of inherited disorders caused by defects in specific enzymes, transporters, or metabolic pathways that disrupt normal biochemical processes in the nervous system. Characterized by progressive neurological deterioration, these conditions typically present with a combination of developmental delay, seizures, movement disorders, and multisystem involvement due to toxic substrate accumulation or energy deficiency. Representative examples include lysosomal storage disorders, peroxisomal disorders, mitochondrial diseases, and amino acidopathies.
Fig.1 Neurometabolic disease complications in humans. (Souravh Bais, et al., 2024)Pathogenesis of Rare Neurometabolic Diseases
Rare neurometabolic diseases arise from genetic defects in key metabolic pathways, resulting in accumulation of toxic substrates, energy deficiency, or depletion of essential metabolites. These biochemical perturbations trigger a cascade of cellular damage through mechanisms such as lysosomal dysfunction, peroxisome damage, or respiratory chain failure, ultimately leading to neuronal death, neuroinflammation, and demyelination. Their clinical severity is often correlated with residual enzyme activity and central nervous system permeability of accumulated metabolites.
Fig.2 Cellular neurometabolism: compartmentalised signalling and metabolism in the brain. (García-Cazorla À, Saudubray J M., 2018)
Therapeutic Development for Rare Neurometabolic Diseases
| Drug Name | Indications | Mechanism of Action | NCT Number | Research Phase |
| CAN103 | Gaucher Disease | Recombinant human acid β-glucosidase (rhGBA) enzyme replacement therapy (ERT) | NCT05447494 | Phase I/II |
| AVR-RD-02 | Gaucher Disease | Substrate reduction therapy (glucosylceramide synthase inhibitor) | NCT05815004 | Phase II/III |
| EPI-743 | Leigh Syndrome | Para-benzoquinone analog targeting redox cycling and oxidative stress | NCT02352896 | Phase IIb |
| Phenylbutyrate | Maple Syrup Urine Disease | Nitrogen scavenger to reduce branched-chain amino acid accumulation | NCT01529060 | Phase III |
| Pyridostigmine Bromide | Pompe Disease | Acetylcholinesterase inhibitor to improve neuromuscular transmission | NCT02357225 | 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
At Protheragen, we focus on preclinical research in rare neurometabolic diseases, providing comprehensive solutions from biomarker identification to development of CNS targeted therapeutics. Our expertise covers disease modeling, including patient-derived iPSCs, genetically engineered models, and advanced blood-brain barrier (BBB) models for evaluating drug penetration and neuroprotective efficacy. We provide partners with target validation, lead compound optimization, and comprehensive preclinical research services.
Types of Rare Neurometabolic Diseases
| A-L | |
| Aromatic L-Amino Acid Decarboxylase Deficiency Dopamine Transporter Deficiency Syndrome (DTDS) Fabry Disease Fahr's Disease Gaucher Disease |
Glutaric Acidemia Type 1 Glycogen Storage Disease Type III Hurler Syndrome Leber's Hereditary Optic Neuropathy Leigh Syndrome |
| M-R | |
| Maple Syrup Urine Disease (MSUD) MELAS syndrome Menkes Disease Metachromatic Leukodystrophy Methylmalonic Acidemia Neuronal Ceroid Lipofuscinosis (NCL) |
Niemann-Pick Disease Phenylketonuria (PKU) Pompe Disease Propionic Acidemia Pyruvate Dehydrogenase Deficiency Refsum Disease |
| S-Z | |
| Smith-Lemli-Opitz Syndrome Tay-Sachs Disease Wilson's Disease |
X-linked Adrenoleukodystrophy Zellweger Spectrum |
Therapeutic Development Services
Diverse Therapeutic Development Platforms
Customized Drug Development Services
Disease Model Development Services
In Vitro Model
Development
To advance the commercialization of novel therapies for rare neurometabolic 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
- Souravh Bais, Renu Kumari, Nirmal Dongre, et al. Insights into neurometabolic diseases[J]. AIMS Molecular Science, 2024, 11(2): 116-139.
- García-Cazorla À, Saudubray J M. Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology[J]. Journal of Inherited Metabolic Disease, 2018, 41: 1043-1054.