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- Aicardi Syndrome
Aicardi Syndrome is a rare, life-threatening condition that affects an individual's nervous system, with a focus on females. Protheragen is committed to advancing the field of Aicardi Syndrome research and development, providing comprehensive services that support the identification of novel diagnostics and the development of effective therapies.
Aicardi Syndrome is an uncommon neurodevelopmental condition marked by the absence of corpus callosum, infantile spasms, and chorioretinal lacunae. It mostly affects females and is reported to occur in about 1 in 100,000 to 167,000 live births. Individuals with Aicardi syndrome have severe cognitive and physical disabilities and are usually expected to live a shorter life. The condition is classified as X-linked dominant disease, presumed to be fatal in males; however, recent genetic work posits a more intricate and diverse genetic origin.
Fig.1 Phenotype analysis of morpholino-mediated knockdown of Aicardi candidate genes in zebrafish embryos. (Ha T. T., et al., 2023)
Ophthalmological Examination
A fundoscopy is essential to observe any chorioretinal lacunae which is an important feature pertaining to the diagnosis of Aicardi Syndrome. These are usually less pigmented than normal and may be present in one or both sides. For example, one case study mentioned the observation of several hypopigmented chorioretinal lesions in a baby which verified the diagnosis of Aicardi Syndrome.
Genetic Testing
The application of exome and genome sequencing hints toward the possibility of genetic heterogeneity Aicardi Syndrome due to its potential candidate genes. These techniques assists in detecting new mutations and eliminating alternative genetic disorders. For instance, a recent study discovered a new variant of the WNT8B gene which advanced the understanding about the genetic foundation of Aicardi syndrome.
| Therapeutics | Target | Description | Stage |
| Antiepileptic Drugs (AEDs) | Seizure Control | Various AEDs such as valproate, lamotrigine, levetiracetam, and vigabatrin are used to manage seizures. However, therapeutic success is variable, and multiple drugs are often required. | Approved |
| Ketogenic Diet | Metabolic Regulation | A high-fat, low-carbohydrate diet that has shown efficacy in reducing seizure frequency in some patients. It is particularly beneficial for those who do not have infantile spasms at the onset of the diet. | Approved |
| Vagus Nerve Stimulation (VNS) | Neurostimulation | VNS involves the surgical implantation of a device that stimulates the vagus nerve, reducing seizure frequency and severity. | Approved |
| Physiotherapy | Motor Function Improvement | Regular physiotherapy sessions help improve muscle strength and coordination, enhancing the patient's mobility and quality of life. | Approved |
| WNT8B Inhibitors | Wnt Signaling Pathway | Potential future therapies targeting the Wnt signaling pathway, based on genetic studies identifying WNT8B variants in some AS cases. | Preclinical |
| SLF1 Modulators | Gene Expression Regulation | Investigating the role of SLF1 in brain development, with potential for developing therapies targeting this gene. | Preclinical |
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.
Protheragen provides Aicardi Syndrome diagnostics and therapeutics development services tailored to our clients' needs. Specialized services aiding research, such as genetic analysis, preclinical modeling, and drug development, are in-house, allowing us to expedite R&D for this rare disease.
We at Protheragen know that any Aicardi Syndrome research project comes with its challenges. That is why all our clients are offered tailored services that are flexible in scope to accommodate their requirements. Our experts are ready to help you create and implement a custom research plan, which includes but is not limited to: developing a new diagnostic tool, evaluating the efficacy of a novel therapeutic agent, or conducting a comprehensive preclinical study. If you are interested in our services, please feel free to contact us.
References
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