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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.

Congenital Fibrosis of the Extraocular Muscles

Congenital Fibrosis of the Extraocular Muscles (CFEOM) is a highly distinctive genetic disorder that falls under the category of congenital cranial dysinnervation disorders (CCDDs). With rich experience and a top-notch team, Protheragen is well-positioned to provide customized CFEOM diagnostics and therapy development solutions.

Overview of CFEOM

Congenital Fibrosis of the Extraocular Muscles (CFEOM) is a group of rare genetic disorders characterized by nonprogressive restrictive ophthalmoplegia, leading to severe limitations in eye movement. These conditions are part of the congenital cranial dysinnervation disorders (CCDDs), affecting the development of cranial nerves and their nuclei. CFEOM presents with significant phenotypic and genotypic heterogeneity, with at least five subtypes (CFEOM-1 to CFEOM-5), each associated with distinct genetic mutations and features.

Fig.1 Schematic representation of the KIF21A protein structure. (Trejo-Reveles V., et al., 2023)

Diagnostics Development for CFEOM

Genetic testing has revolutionized the diagnosis of CFEOM by identifying causative genes and mutations. With at least seven causative genes identified, including KIF21A, PHOX2A, TUBB3, TUBB2B, TUBA1A, ECEL1, and COL25A1, genetic testing is now a cornerstone in the diagnostic process. For example, mutations in the KIF21A gene are the most common cause of CFEOM, accounting for over half of all cases and are associated with CFEOM-1 and a small proportion of CFEOM-3 cases.

Therapeutics Development for CFEOM

Targeting Genetic Mutations

The advent of gene therapy offers promising avenues for addressing the genetic etiologies of CFEOM. By utilizing advanced techniques such as CRISPR/Cas9 gene editing, the potential to correct or mitigate the underlying genetic defects is being increasingly realized. For instance, gene therapies targeting mutations in KIF21A, notable for their role in CFEOM-1, open up possibilities for restoring normal function to aberrant cranial nerves. Such therapeutic strategies are at the forefront of scientific exploration, aimed at not just alleviating symptoms but targeting the root genetic cause.

Challenges and Opportunities in Gene Therapy

The promise of gene therapy is tempered by significant hurdles, primarily concerning accuracy, effectiveness, and security. Optimal design of delivery systems, like viral vectors, is crucial for achieving tissue-specific gene expression, minimizing off-target impacts, and maintaining long-term therapeutic efficacy. These challenges present an opportunity for extensive research and innovation, holding the potential for significant advances in the therapeutic development of complex conditions.

Our Services

As a research services provider, Protheragen is committed to providing one-stop CFEOM diagnostics and therapeutic development services. Our expertise lies in exploring the genetic architecture of CFEOM to unearth novel therapeutic targets, leveraging cutting-edge technology to propel drug discovery and gene therapy development.

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
Customized Therapy Development

Disease Models

Kif21A Mutation Mouse Models
TUBB3 Mutation Mouse Models
CFEOM Zebrafish Models
Customized Animal Models

Preclinical Research

Pharmacodynamics Study Services
Pharmacokinetics Study Services
Drug Safety Evaluation Services
Customized Research Services

Protheragen's preclinical research services are dedicated to advancing the understanding of CFEOM at the molecular and cellular levels. Our services include:

High-Throughput Screening: Employing high-throughput screening techniques to identify potential drug candidates that can target the molecular pathways implicated in CFEOM.
Genetic and Molecular Research: Conducting in-depth genetic and molecular research to uncover the pathogenic mechanisms of CFEOM and identify potential therapeutic targets.
Animal Models and In Vitro Studies: Utilizing animal models and in vitro studies to test the safety and efficacy of novel therapeutic compounds and interventions.

If you are interested in our services, please feel free to contact us.

References

Xia, Weiyi, et al. "Congenital fibrosis of the extraocular muscles: an overview from genetics to management." Children 9.11 (2022): 1605.
Vivian, Anthony J. "Congenital fibrosis of the extra-ocular muscles (CFEOM) and the cranial dysinnervation disorders." Eye 34.2 (2020): 251-255.