Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a pathology defined as an inherited tachyarrhythmia syndrome featuring exercise or emotion-induced bidirectional or polymorphic ventricular arrhythmia. Most cases of the syndromes are caused by pathogenic variants of the gene that encodes cardiac ryanodine receptor (RYR2). We at Protheragen are working to advance drug research and development for rare cardiovascular diseases such as CPVT. Our service spans the entire drug development cycle from the initial candidate's discovery through to the stages of efficacy and safety testing.

Introduction to Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an uncommon inherited form of arrhythmia that can occur with intense physical activity or strong emotions. It predominantly impacts the younger population, particularly children and young adults, and is marked by rapid, polymorphic, and sometimes bidirectional tachycardia. Associated signs may include syncope, hypotonia, convulsive movements, and, in extreme cases, death. The accurate prevalence of CPVT remains largely unknown, with a suggested prevalence of 1 in 10,000 or less.

Fig.1 Primary features of CPVT. (Schneider, L., et al., 2025)

Pathogenesis of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

CPVT results from disturbances in Ca²⁺ handling within the sarcoplasmic reticulum of cardiac myocytes. Most often, mutations in the RYR2 and calsequestrin isoform 2 (CASQ2) genes are observed in familial CPVT cases. With catecholaminergic stimulation, either mutation can cause too much Ca to be loaded during diastole, which then results in delayed after-depolarization, which leads to arrhythmias.

Fig.2 Key mechanism of CPVT. (Schneider, L., et al., 2025)

Therapeutics Development for Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a therapy plan recommendation. For guidance on therapy options, please visit a regular hospital.

Our Services

As part of preclinical drug development, we work alongside our clients in searching for new therapy solutions for CPVT as part of our multidisciplinary work. Our clients can benefit from our extensive service that encompasses all stages of the drug discovery and development processes, including but not limited to, diagnostic development, therapeutic development, modern disease model construction, and other services like pharmacokinetics and drug safety testing.

Therapeutic Development Services

Diverse Platforms

• Small Molecule Drug Development
• Gene Therapy Development
• Therapeutic Peptide Development

• Cell Therapy Development
• Therapeutic Antibody Development
• Therapeutic Protein Development

Animal Model Development for CPVT

Animal models offer invaluable knowledge regarding the mechanisms of disease and the development of new therapy strategies. Our company provides tailored services for the development of animal models specially designed to solve the unique problems posed by CPVT and accurately replicate its phenotype.

Genetically Engineered Models

Techniques like transgenics, knock-in/knockout strategies, and gene editing are widely used to modify key genes, including those encoding the RyR2 and CASQ2, which enable the animals to exhibit electrophysiological abnormalities and arrhythmogenic phenotypes consistent with CPVT.

Optional models:

• CASQ2 knockout model
• TECRL knockout model
• RyR2-I4855M^+/- model

• RyR2^R4496C model
• RyR2^R176Q/+ model
• Other models

By integrating modern science with advanced technology, Protheragen is committed to ensuring that every one of our projects, including the implementation of novel innovative therapies, adheres to maximally effective standards of safety, fulfills the requirements of scientific insight, and accelerates the transition from bench to bedside. Do not hesitate to reach out at any point if you are interested in our offerings.

Reference

• Schneider, Luca et al. "Catecholaminergic Polymorphic Ventricular Tachycardia: Advancing from Molecular Insights to Preclinical Models." Journal of the American Heart Association 14.6 (2025): e038308.