Coats plus syndrome is a rare recessive disorder that poses a high risk for life-threatening portal hypertension with gastrointestinal bleeding. Protheragen is committed to advancing drug discovery and development for Coats plus syndrome and other rare gastrointestinal disorders using an integrated, full-service research platform. This multifaceted solution not only enhances the speed of conversion from bench to bedside but also nurtures effective therapy innovations.

Overview of Coats Plus Syndrome

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), previously termed Coats plus syndrome, is an unusual multisystemic condition caused by an autosomal recessive gene. It affects the eyes, brain, bone, and gastrointestinal system. Liver failure and gastrointestinal bleeding are the major roles of mortality and morbidity. A liver biopsy reveals inflammatory changes, abnormal vascularization, and telangiectatic vessels.

Fig.1 Telomere aberrations in Coats plus syndrome individuals. (Oudrhiri, N., et al., 2022)

Pathogenesis of Coats Plus Syndrome

Coats plus syndrome is a genetically inherited disease, transmitted in an autosomal recessive manner due to mutations in the conserved telomere maintenance component 1 gene (CTC1). The CTC1 gene is located on chromosome 17p13.1 where it is involved in telomere replication. The CTC1 protein is a component of the CST complex which is a heterotrimeric protein composed of CTC1-STN1-TEN1 that facilitates DNA synthesis at telomeres and prevents the elongation of telomeres by telomerase.

Therapeutics Development for Coats Plus Syndrome

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

Our Services

A one-stop solution from our company aims to close the chasm of drug development, pioneering research, and application in such a way that new therapies are easily accessible to those who require them. Our one-stop research services are built to help your diagnostic marker development, develop a therapy, or disease modeling to help advance your projects for thorough preclinical evaluation confidently and accurately.

Therapeutic Development Services

• Small Molecule Drug
• Cell Therapy Development
• Gene Therapy Development
• Therapeutic Antibody

• Therapeutic Peptide
• Therapeutic Protein
• Microbiome Therapeutic
• More

Animal Model Development Services for Coats Plus Syndrome

Along with enabling an in-depth understanding of disease mechanisms, animal models allow for the preclinical evaluation of new drug candidates for efficacy and safety. We offer custom animal model development services to support your research efforts directed toward the study of Coats plus syndrome.

Genetically Engineering Model

By utilizing genetic engineering techniques to induce CTC1 or other gene loss-of-function in animals, generate phenotypes analogous to those observed in Coats plus syndrome.

Optional models: CTC1 mutation model, STN1 mutation model, other models

Alongside our specialization in model development, Protheragen provides full pharmacokinetic profiling studies and drug safety evaluation services. Given our dedication to scientific rigor alongside tailored services, we are uniquely positioned to aid in the Coats plus syndrome drug development undertaking. For further inquiries, reach out to us.

Reference

• Oudrhiri, Noufissa et al. "Patient-Derived iPSCs Reveal Evidence of Telomere Instability and DNA Repair Deficiency in Coats Plus Syndrome." Genes 13.8 (2022): 1395.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.