Aicardi Syndrome
Aicardi syndrome is a rare genetic disorder usually associated with a mutation in the X chromosome. Protheragen boasts a talented team of researchers and scientists with extensive expertise in Aicardi syndrome. They are deeply committed to pioneering the development of cutting-edge therapies for Aicardi syndrome, aiming to address unmet therapeutic needs and advance targeted therapeutics in the field.
Overview of Aicardi Syndrome
Aicardi syndrome is a rare, X-linked dominant neurodevelopmental disorder almost exclusively affecting females, characterized by a diagnostic triad of corpus callosum agenesis, infantile spasms, and chorioretinal lacunae. This severe condition presents with refractory epilepsy, profound developmental delay, and ocular abnormalities, typically diagnosed through clinical evaluation and brain MRI. The estimated incidence of Aicardi syndrome is 1 in 100,000 to 167,000 live births.
Fig. 1 Phenotype analysis of morpholino mediated knockdown of Aicardi candidate genes in zebrafish embryos. (Ha T T, et al., 2023)
Pathogenesis of Aicardi Syndrome
The development of Aicardi syndrome is not fully known, but it is likely caused by some form of X chromosome dysfunction, perhaps due to new mutations in important genes responsible for neurodevelopment. Although no singular gene has been pointed out as the cause, some candidate genes such as TEAD1 indicate some pathways involving neuronal migration, cortical organization, and interhemispheric connectivity could be affected. The striking triad of symptoms suggests crucial brain and eye developmental stages are profoundly impaired.
Therapeutic Development for Aicardi Syndrome
| Drug Names | Mechanism of Action | Targets | Research Phase |
| Vigabatrin | Vigabatrin increases levels of gamma-aminobutyric acid (GABA) by irreversibly inhibiting the enzyme GABA transaminase, resulting in decreased neuronal excitability and reduced seizure activity. | GABA transaminase | Approved |
| Sodium valproate | Sodium valproate enhances the function of GABA, an inhibitory neurotransmitter, possibly by inhibiting GABA metabolism or influencing its reuptake and release, also modulating sodium channels to stabilize neuronal membranes. | Voltage-gated sodium channels, GABA receptors | Approved |
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 Aicardi syndrome. 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.
Therapeutic Development Services
By Mechanism of Action
Disease Model Development Services
In Vitro Model Development
- TEAD1 Conditional Knockout Model: Targeted knockout of the putative candidate gene TEAD1 on chromosome X using gene editing technology.
- Toxin-Induced Corpus Callosum Agenesis Model: Use prenatal exposure to ethanol to disrupt midline brain development in rodents.
At Protheragen, we offer comprehensive pharmacodynamic (PD), pharmacokinetic (PK), and toxicology research services to support the development and regulatory approval of potential therapies for Aicardi syndrome. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Ha T T, Burgess R, Newman M, et al. Aicardi syndrome is a genetically heterogeneous disorder[J]. Genes, 2023, 14(8): 1565.