Vascular Ehlers-Danlos Syndrome (vEDS)

Vascular Ehlers-Danlos syndrome (vEDS) is due to an abnormal type III collagen that results in weak connective tissue. Vascular dissection and rupture, hollow organ rupture, may lead to lethal outcomes in vEDS. Dedicated to the development of therapies for rare cardiovascular diseases such as vEDS, Protheragen is a premier research service provider specializing in one-stop drug discovery and development services.

Introduction to Vascular Ehlers-Danlos Syndrome (vEDS)

Mutations in COL3A1 cause vascular Ehlers-Danlos syndrome (vEDS), which is an inherited autosomal dominant trait. An estimated 5% of all EDS cases are thought to have it, with a prevalence ranging from 1:50,000 to 1:100,000. Because of the rupture of arteries and hollow organs, vEDS has the poorest prognosis of all the EDS subtypes and is characterized by anomalies of the skin, joints, hollow organs, and blood vessels.

Fig.1 A left carotid angiography reveals two left ICA aneurysms. (Olubajo, F., et al., 2020)

Pathogenesis of Vascular Ehlers-Danlos Syndrome (vEDS)

The autosomal dominant condition vascular Ehlers-Danlos Syndrome (vEDS), is caused by mutations in the COL3A1 gene. It disrupts the architecture of the pro-alpha-1 type III collagen chain and its biosynthetic processes, weakening the vascular wall. Distensible tissues such as the skin and blood vessels have a proportionally large volume of type III collagen. Those with vEDS expressing the abnormal collagen phenotype have vessel walls that are thinner with elastin fibrils irregular; the cross-sectional area and total collagen are reduced. These factors heighten the potential for developing aneurysms, arterial dissections, spontaneous ruptures, and fistula formation.

Fig.2 vEDS therapy options. (Buso, G., et al., 2024)

Therapeutics Development for Vascular Ehlers-Danlos Syndrome (vEDS)

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

Protheragen has specialized disease diagnostics, therapeutic development, and disease modeling services, specifically for vEDS. We therapeutically support some novel drug therapies being studied for this rare disorder. Diagnostically, we have incorporated the most advanced methodologies to accurately define and interpret disease markers underlying and accompanying the disease. Advanced disease model creation services are also offered with in vivo and in vitro models that adequately recapitulate the vEDS features for meaningful preclinical 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 vEDS

The generation of animal models of vEDS will be of significance in exploring and accelerating the discovery of effective therapeutics for this rare and life-threatening cardiovascular disease. We provide personalized vEDS-related animal model development projects, which would help the researchers in preclinical preparation and promote cardiovascular drug development.

Genetically Engineered Animal Models

In order to mimic the symptoms of vEDS, particular mutations are introduced into genes such as COL3A1 in genetically modified animal models.

• Col3a1^m1Lsmi/+ model
• Col3a1^+/G182R model
• Col3a1^G938D/+ model

• Col3a1^G209S/+ model
• Col3a1 haplo-insufficient model
• Other models

Protheragen's team collaborates directly with the customer to help them develop valuable drugs for rare cardiovascular diseases, such as vEDS, inspired by a commitment to innovation and quality. Pharmacokinetic analysis and drug safety evaluation are also part of our comprehensive preclinical services, these are essential steps to ensure the quality and safety of drug candidates before entering the next phase of studies. Contact us today to learn how we can help you with your research and development requirements.

References

• Buso, Giacomo et al. "Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers-Danlos Syndrome: Focus on Vascular Prevention." Journal of clinical medicine 13.14 (2024): 4255.
• Olubajo, Farouk et al. "Vascular Ehlers-Danlos Syndrome: Literature review and surgical management of intracranial vascular complications." Clinical neurology and neurosurgery 193 (2020): 105775.