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Project Description

Please note that we are a research service provider, not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.

Aicardi Syndrome (AS)

Aicardi syndrome is a rare neurodevelopmental condition characterized by abnormalities of the brain, spine, and retina and unusually affects girls. At Protheragen, we continually strive to expand the boundaries of Aicardi Syndrome research with the aid of novel diagnostics, therapeutics, and preclinical services.

Overview of Aicardi Syndrome (AS)

Aicardi Syndrome, also known as AS, is an uncommon problem in the development of the nervous system that mostly targets females, marked by the absence of the membranes that connect the two halves of the brain, infantile spasms, and missing chorioretinal areas. It is an X chromosome-linked disorder, which leads to various negative impacts including major delays in development, cognitive incapacity, and neurological and systemic issues. Though AS is not common, Intellectual disabilities and Aicardi Syndrome put the person suffering from it and their family in a dire situation requiring methods that treat all of its aspects.

Illustration depicting the patient's ophthalmoscopy.

Fig.1 Ocular features of Aicardi syndrome. (Thomas C. J., et al., 2021)

Diagnostics Development for Aicardi Syndrome

Genetic and Molecular Diagnostics
New improvements in genetic sequencing technologies have pointed toward possible genetic diversity of Aicardi Syndrome. Genetic studies previously focused on X-linked causation showed the presence of de novo changes in multiple autosomal genes like WNT8B, SLF1, and SZT2. This hints at Aicardi Syndrome being more than just X-linked, making the case for further testing for novel causative genes stronger. The diagnosis is being made more accurate with the use of exome and genome sequencing in AS cases, which provides an avenue for targeted therapeutics in the future.

Differential Diagnostics
Due to the complex nature of AS, the differential diagnosis is crucial at this stage in order to minimize inappropriate diagnosis. For example, the consideration of Lennox-Gastaut syndrome with clinically indistinguishable seizure types and the Dandy-Walker syndrome that may be presented as interhemispheric cysts must be differentiated. AS requires the integration of various specialties including neurology, radiology, and ophthalmology for its correct diagnosis and differentiation from other neurodevelopmental disorders.

Therapeutics Development for Aicardi Syndrome

Antiepileptic and Anticonvulsant Therapies

Seizure control is one of the principal concerns in Aicardi Syndrome. AEDs like lamotrigine, valproic acid and levetiracetam are ascribed for the management of other types of seizures and infantile spasms. In several cases, therapeutic is insufficient which opens room for additional therapeutic options. Some studies regarding the ketogenic diet described it as a promising option because it has been associated with a marked decrease in seizure frequency after some months of dietary sustained intervention.

Gene Therapy Approaches

Some recent studies have opened new avenues for research in Aicardi Syndrome. Some candidate genes responsible for AS have been identified such as WNT8B and SLF1 which play important developmental roles. These genes could be targeted for gene therapy which aims to modify or silence pathologically over-expressed genes. For instance, some types of AS could be treated by directly correcting mutations associated with the disease using CRISPR/Cas9 technology.

Our Services

We focus on drug discovery and development so that potential therapeutic candidates for Aicardi Syndrome can be identified and validated quickly. We use high-throughput screening techniques and pharmacological assays to determine the effectiveness of antiepileptic drugs along with other protective agents. Our preclinical study services provide crucial information concerning the safety, pharmacokinetics, and effectiveness of the drugs which allows for the most promising candidates to transition into human trials.

Diagnostics Development

Karyotype Analysis Service
Omics Analysis Service
Biomarker Development Service
Artificial Intelligence Service

Therapeutic Development

Small Molecule Drug
Cell Therapy
Gene Therapy
Therapeutic Antibody
Therapeutic Peptide
Therapeutic Protein

Preclinical Research

Pharmacodynamics Study Services
Pharmacokinetics Study Services
Drug Safety Evaluation Services

Disease Models

Zebrafish Models: We develop zebrafish models of Aicardi Syndrome through gene editing, targeting candidate genes identified in human studies.
Mouse Models: We generate transgenic and knockout mouse models to investigate the roles of key genes in cortical development and neurogenesis.

Protheragen's preclinical research services encompass a wide range of genetic and molecular studies aimed at unraveling the complexities of Aicardi Syndrome. We utilize advanced genomic techniques, including exome and whole-genome sequencing, to identify de novo variants and explore the genetic heterogeneity of AS. Our molecular biology services focus on functional studies of candidate genes, providing insights into their roles in cortical development and neurogenesis. If you are interested in our services, please feel free to contact us.

References

Cuenca, Nury Tatiana Rincón, et al. "Diagnostic approach to Aicardi syndrome: A case report." Radiology Case Reports 17.9 (2022): 3035-3039.
Ha, Thuong T., et al. "Aicardi Syndrome Is a Genetically Heterogeneous Disorder." Genes 14.8 (2023): 1565.