Vici Syndrome Research Services
Protheragen is a research service provider in the field of rare diseases. Our scientist facilitate the translation of your program from the lab to the clinic by integrating the results of multidisciplinary research in molecular biology, cell biology and genetics.
What Is Vici Syndrome?
Vici Syndrome is a rare autosomal recessive multisystem disorder whose main features include cerebral hypoplasia of the corpus callosum, cataracts, reduced skin pigmentation, cardiomyopathy, and combined immunodeficiency. In addition, patients may exhibit other conditions such as developmental delay, microcephaly, and cleft lip and palate.
Mutations and Pathogenesis of Vici Syndrome
Mutations in the EPG5 gene lead to dysfunction of the autophagy-lysosome pathway, which affects cellular metabolism and waste removal, which in turn causes multisystem symptoms. Impaired autophagy leads to the accumulation of abnormal proteins and organelles, affecting cellular homeostasis, especially in the nervous and immune systems.

Diagnostic Methods of Vici Syndrome
- Clinical phenotype
- Genetic testing for mutations in the EPG5 gene
- Imaging
Treatment of Vici Syndrome
There is no effective treatment for Vici syndrome and treatment is focused on relieving symptoms and improving quality of life. It involves multidisciplinary collaboration, including integrated management in the fields of neurology, genetics, immunology, ophthalmology and rehabilitation medicine.
Disclaimer: Protheragen offers scientific research support before clinical work begins. The above is for informational purposes only. Please visit a regular hospital for information on treatment.
Our Services
Model Development Services for Vici Syndrome
In vivo models
- EPG5 Knockout Mouse
- Conditional knockout mice
- EPG5 gene mutation in zebrafish
- And more
In vitro models
- Human induced pluripotent stem cells (iPSCs)
- Primary cell
- Cell line
- 3D models
Applications of our models:
- Pathogenesis studies
- Screening of potential drugs
- Efficacy testing of gene therapy strategies
Biomarker Development Services for Vici Syndrome
Our approach to biomarker discovery includes:
- Whole exome sequencing (WES)
- Whole genome sequencing (WGS)
- RNA sequencing (RNA-seq)
- Microarray analysis
- Proteomics analysis
- Metabolomics analysis
- Immunohistochemistry (IHC)
- Flow cytometry
- Bioinformatics analysis
- Animal model validation
Autophagy Regulator Development Services for Vici Syndrome
We support the development of autophagy modulators for the following molecular targets:
- mTOR pathway inhibitors
- PI3K/AKT pathway inhibitors
- TFEB modulators
- Lysosome-associated inhibitors
Our high-throughput screening technologies include:
- Fluorescent probe-based assays
- Flow cytometry-based quantitative analysis
- Cell culture-based screening
We provide all services for the development of autophagy modulators, including chemical synthesis, molecular target screening, high-throughput screening technologies, and artificial intelligence-based drug design.
Gene Therapy Development Services for Vici Syndrome
Available viral vectors:
- Adeno-associated virus (AAV) vectors
- Lentiviral vectors
- Fusion viral vectors (FVFs)
- Non-viral vectors such as lipid nanoparticles (LNPs)
Gene therapy safety assessment services:
- Immune response analysis
- Off-target effects analysis
- Long-term effects analysis
We offer comprehensive services for the development of gene therapies for Vici syndrome, including multiple steps such as target gene validation, delivery system selection, application of gene editing technologies, model validation and safety assessment. If you are interested in our services, please feel free to contact us.
Reference
- Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H. Vici syndrome: a review. Orphanet J Rare Dis. 2016;11:21. Published 2016 Feb 29.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.