Congenital Nystagmus (CN)

Congenital nystagmus is a heterogeneous condition with a prevalence ranging from 14 to 6.1 per 10,000 live births. Protheragen is at the forefront of congenital nystagmus research, offering comprehensive diagnostics and therapeutics development services.

Overview of Congenital Nystagmus (CN)

Congenital nystagmus (CN) alludes to a complex ocular disorder associated with an involuntary, rhythmic oscillation movement of the eyes. Generally noticed in the first couple months of life, CN has the potential to disrupt visual acuity and quality of life significantly. The condition is often subdivided into two broad categories; sensory nystagmus which forms part of the visual pathway abnormalities, and motor nystagmus which results from the dysfunction of the ocular motor system. The causes of CN are multi-dimensional, ranging from genetic to visual pathway and ocular motor pathway disruptions. It is important to understand these mechanisms for the purposes of developing effective diagnostic and therapeutic approaches.

Different types of nystagmus in children.

Fig.1 Classification of the different forms of childhood nystagmus. (Hussain N., 2016)

Diagnostics Development for Congenital Nystagmus

Genetic Testing and Next-Generation Sequencing
The progression of molecular diagnostics concerning congenital nystagmus has been remarkable with the introduction of NGS. This technology allows for an all-encompassing analysis of the entire genome and can detect numerous mutations within specific genes that are known to cause CN, like the FRMD7, GDF6, and CNGA3. The availability of these NGS panels focused on specific genes enables accurate genetic diagnoses and helps in formulating tailored therapeutic approaches.

Functional Genomics and Biomarker Discovery
Besides DNA sequence alteration, other functional genomics strategies are being applied to CN understanding of the molecular pathways that are disrupted. This includes studying the expression profiles of genes, proteins, interactions, and cellular signaling pathways. Molecule markers discovery through proteomics and metabolomics can look for the molecular signatures of CN which makes it amenable to diagnosis and monitoring therapeutics.

Therapeutics Development for Congenital Nystagmus

Congenital nystagmus drugs administered aim at relieving the symptoms, increasing the vision capability of the patient, and diminshing the nystagmus oscillations. Human trials have been conducted with memantine and gabapentin with some success in blunting the nystagmus oscillations. Memantine, an NMDA antagonist, has been shown to decrease the frequency of nystagmus motion and improve vision for some cases. An anticonvulsant gabapentin is another medication that has been implemented which has shown an improvement in nystagmus’s intensity but does so with mixed results.

Our Services

Protheragen is focused on the research and development of therapeutics for congenital nystagmus (CN). We combine molecular diagnostics, preclinical research and therapeutic development, using cutting-edge technologies and a multidisciplinary approach to provide innovative solutions for this complex and challenging disease.

Diagnostics Development

Therapeutic Development

Preclinical Research

Disease Models of Congenital Nystagmus

In Vitro Models and Cell-Based Assays
In Protheragen's preclinical research services, we provide a wide variety of in vitro models and cell-based assays for studying the molecular mechanisms of congenital nystagmus. Our modern facilities incorporate retinal cell cultures combined with organoid tissues which enables us to perform studies on gene action, protein binding, and cellular signaling. These models enable us to evaluate the effects of pharmacological agents and gene therapy in a controlled system to gain invaluable information for future in vivo experimentation.
In Vivo Models and Animal Studies
Our preclinical studies also incorporate techniques such as mouse models for congenital nystagmus to assess therapeutic interventions in vivo. These models permit evaluation of efficacy, safety, and pharmacokinetics. Protheragen's extensive experience in animal studies guarantees accurate experimental setup and analysis, which is critical for translating therapies into human trials.

-Albino Mouse Models
-Nyxnob Mouse Models

-Congenital Stationary Night Blindness (CSNB) Mouse Models

-Achiasmatic Belgian Sheepdog Models

Protheragen offers customized therapy development services tailored to the unique needs of congenital nystagmus research. If you are interested in our services, please feel free to contact us.

Reference

Hussain, Nahin. "Diagnosis, assessment, and management of nystagmus in childhood." Paediatrics and Child Health 26.1 (2016): 31-36.