Susac Syndrome
Susac syndrome is an uncommon autoimmune condition marked by targeted damage to endothelial cells lining the microvessels of the brain, retina, and inner ear, resulting in notable microangiopathic failure. Understanding the multi-layered complexities this syndrome entails, Protheragen has combined cutting-edge platforms with deep translational expertise to design novel, mechanism-oriented therapies.
Introduction to Susac Syndrome
Susac syndrome is an uncommon, immune-mediated disorder of the small blood vessels. It presents with the clinical triad of encephalopathy, branch retinal artery occlusions, and sensorineural hearing loss, mostly in young adults. The condition arises from injury to the endothelial cells of the microvessels in the brain, retina, and cochlea, probably triggered by autoantibodies and complementary cascade activation. This endothelial dysfunction results in microinfarctions and subsequent ischemic damage to the affected tissues.
Fig.1 Diagnostic criteria of Susac syndrome. (Santiago I B, et al., 2022)
Pathogenesis of Susac Syndrome
Susac syndrome is distinguished by an immune-mediated assault on microvascular endothelium. The presence of anti-endothelial cell antibodies (AECAs) alongside complement activation selectively engages precapillary arterioles within the brain, retina, and inner ear. This cascade incites T-cell accumulation, localized breakdown of the blood-brain barrier, and microthrombosis, resulting in focal tissue ischemia and the defining clinical triad of encephalopathy, retinal arterial occlusions, and sensorineural hearing loss. Although the inciting stimulus remains elusive, aberrant autoimmune regulation in concert with putative genetic predisposition suggests a complex aetiology for this rare microangiopathy.
Fig.2 Proposed pathogenic mechanisms of Susac syndrome. (Srichawla B S., 2022)
Therapeutic Development for Susac Syndrome
| Drug Names | Mechanism of Action | Targets | Research Phase |
| Methylprednisolone | Synthetic glucocorticoid that suppresses immune activation by inhibiting pro-inflammatory cytokines (IL-1, IL-6, TNF-α) and reducing T-cell migration | Glucocorticoid receptor (GR), NF-κB pathway | Approved |
| Intravenous Immunoglobulins (IVIG) | Polyclonal antibody preparation that modulates autoantibodies, blocks Fc receptors on immune cells, and inhibits complement-mediated damage | Fcγ receptors, complement proteins (C3b, C4b), pathogenic autoantibodies | Approved |
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
At Protheragen, we specialize in advancing preclinical research on Susac syndrome, delivering an integrated pipeline spanning biomarker discovery to the design of CNS-targeted therapeutics. Our capabilities include sophisticated disease modeling, utilizing patient-derived iPSCs, genetically engineered models, and state-of-the-art blood-brain barrier (BBB) models to assess both drug delivery and neuroprotective potency. We partner with collaborators to perform target validation, refine lead compounds, and execute a full suite of preclinical research services.
Therapeutic Development Services
By Mechanism of Action
Disease Model Development Services
In Vitro Model Development
- Experimental Autoimmune Vasculitis (EAV) Model
- Anti-Endothelial Cell Antibody (AECA) Induced Model
- Cep290 Mutant Model
- C5aR1 Transgenic Model
- HLA-DRB1*15:01 Transgenic Model
- Other Models
Protheragen is steadfastly dedicated to meticulously validating and optimizing therapies for Susac syndrome through a thorough series of pharmacodynamics (PD), pharmacokinetics (PK) and toxicology studies. If you are interested in our services, please feel free to contact usfor more details and quotation information of related services.
References
- Santiago I B, Araújo A L M, Nóbrega I L P, et al. Characteristics and management of Susac syndrome in an emergent country: a multi-center case series from Brazil[J]. Neurological Sciences, 2022, 43(11): 6449-6460.
- Srichawla B S. Susac syndrome with livedo reticularis: pathogenesis and literature review[J]. Cureus, 2022, 14(7).