Short QT Syndrome (SQTS)

Short QT syndrome (SQTS) is an uncommon inherited disease whose manifestations can include atrial or ventricular tachyarrhythmias, syncope, or even sudden cardiac death. Here at Protheragen, we are proud to provide comprehensive, one-stop drug discovery and development services relating to SQTS and other rare cardiovascular disorders. Our focus is centered on integrating a broad range of skills in diagnostics and therapeutics, and disease model development, which we have, so innovative research is timely converted into realities.

Introduction to Short QT Syndrome (SQTS)

Short QT syndrome (SQTS) is one of the rarest inheritable cardiac channelopathies with an accelerated cardiac repolarization which is also the substrate for the development of life-threatening ventricular arrhythmias. Individuals diagnosed with SQTS may confront a cardiac arrest incident somewhere between the neonatal stage and 80 years of age. The cumulative probability of suffering a cardiac arrest by the fifth decade of life is nearly 40 percent. The prevalence of SQTS is estimated to be anywhere between 1.6 to 5.8 cases per 100,000 individuals.

Fig.1 Heart ion channel dysfunction in SQTS. (Dewi, I. P., and Dharmadjati, B. B., 2020)

Pathogenesis of Short QT Syndrome (SQTS)

As with other congenital arrhythmogenic anomalies, SQTS is linked with several mutations at the molecular level which result in the dysfunction of ion channels responsible for the sustenance of cardiac action potential. SQTS is inherited with genetic heterogeneity as an autosomal dominant trait with at least six known genes associated with SQTS, these genes encoding potassium channel (KCNH2, KCNQ1, KCNJ2) and calcium channels SQTS associated CACNA1C, CACNB2, and CACNA2D1.

Fig.2 The applications of specific cardiomyocytes from SQTS individuals. (Fan, X., et al., 2022)

Therapeutics Development for Short QT Syndrome (SQTS)

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

Sophisticated facilities and the multidisciplinary team of our company assure you that your project will be handled with the highest level of detail and care. We use modern technologies and a profound understanding of the pathology of SQTS for diagnostic development through our specialized services. In therapeutic development, our expertise ranges from target discovery to preclinical development. Utilizing our custom disease model development services, we strive to provide novel approaches for rare cardiovascular diseases.

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 SQTS

Animal models of SQTS are a commonly used approach for disease modeling and drug testing. Our company develops and utilizes advanced genetically engineered animal models that faithfully recapitulate the human disease phenotype, allowing for a thorough evaluation of drug efficacy and safety.

Genetically Engineered Models

Animals engineered to harbor mutations in the ion channel-related genes help to investigate the arrhythmogenic substrate and cellular mechanisms underlying SQTS.

• SLC4A3 knockdown model
• KCNH2 mutation model
• KCNQ1 mutation model

• KCNJ2 mutation model
• HERG mutation model
• Other models

Moreover, Protheragen has a fully integrated preclinical service platform which includes pharmacokinetics and drug safety evaluations. With modern technologies and highly skilled professionals, we continue to achieve unparalleled results, which has earned us the reputation of being one of the most reliable partners in your progression from discovery to clinical development. Please do not hesitate to get in touch at any time should you need further information.

Reference

• Dewi, Ivana P, and Budi B Dharmadjati. "Short QT syndrome: The current evidences of diagnosis and management." Journal of arrhythmia 36.6 (2020): 962-966.
• Fan, Xuehui et al. "Preclinical short QT syndrome models: studying the phenotype and drug-screening." Europace: European pacing, arrhythmias, and cardiac electrophysiology: journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 24.3 (2022): 481-493.