Urofacial Syndrome (UFS)

Urofacial Syndrome (UFS), or Ochoa syndrome, is an uncommon disorder that is inherited in an autosomal recessive manner. Tailored preclinical solutions for UFS are provided by Protheragen, who makes use of their knowledge in genetic kidney and urological disorders and the complex pathophysiology of the disorder.

Overview of Urofacial Syndrome

UFS stems from biallelic mutations affecting either HPSE2 or LRIG2 which are responsible for the development of peripheral nerves in the bladder and bowel. People suffering from the disorder usually have dysfunctional voiding, hydronephrosis, recurrent urinary infections, and may even progress to chronic kidney disease (CKD). UFS has an estimated prevalence of roughly 1 in 100,000 but appears to be under diagnosed because of the diverse range of symptoms and lack of understanding of the condition. Interventions at an early stage have to be made in order to halt the relentless damage to the kidneys.

Pathogenesis of Urofacial Syndrome

UFS is the result of a combination of mutations in the genes HPSE2 (which encodes heparanase-2) and LRIG2. This essentially disturbs HSPG, or heparan sulfate proteoglycan, mediated signaling bladder innervation and coordinating facial muscles. The HPSE2 deficiency causes disruption to the pathways in a neural crest which results to voiding and detrusor sphincter dyssynergia. Dysfunctions from LRIG2 impacts other circuits further beyond the overlap of the neurodevelopmental frameworks that link facial and urinary system deformities through a shared defect of the neural network.

Fig.1 UFS Pathophysiology. (Osorio, Rivillas and Martinez, 2021)

Therapeutics Development for Urofacial 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

Protheragen is a comprehensive preclinical service provider dedicated to the therapeutic development for urofacial syndrome. Our extensive therapeutic development services incorporate the use of sophisticated disease models that effectively capture the profound neuro-urological and renal features of this inherited disorder, supporting mechanism-based drug discovery for its severe clinical manifestations.

Therapeutic Development Platforms for Urofacial Syndrome

• Small Molecule Drug
• Cell Therapy
• Gene Therapy

• Therapeutic Antibody
• Therapeutic Peptide
• Therapeutic Protein

Disease Models Development for Urofacial Syndrome

Protheragen provides specific and robust disease models to accelerate preclinical research on urofacial syndrome. Our platform integrates cell-based models, kidney organoids, and animal models. These are essential for dissecting the impact of HPSE2 and LRIG2 mutations on neuronal development, bladder physiology, and secondary renal health, as well as for testing novel therapeutic interventions.

Cell-based & Organoid Models

• HPSE2-KO Urothelial Cell
• LRIG2-Mut Bladder SMC
• Urothelial-Neuronal Co-Culture
• HPSE2-KO Kidney Organoid

Animal Models

• Urothelium-HPSE2 cKO Mouse
• Lrig2-KO Zebrafish Model
• HPSE2/LRIG2-DKO Rat Model
• hLRIG2-Mut Mouse Model

Protheragen offers end-to-end preclinical development solutions specifically designed for research in severe congenital urological and renal disorders like urofacial syndrome. We specialize in custom disease model development, pharmacokinetics, and drug safety evaluation, enabling us to support your investigation from initial discovery through to preclinical validation.

If you are interested in our services, please don't hesitate to contact us.

References

1. Osorio, S., N. D. Rivillas, and J. A. Martinez. "Urofacial (Ochoa) Syndrome: A Literature Review." J Pediatr Urol 17.2 (2021): 246-54.
2. Roberts, N. A., and A. S. Woolf. "Heparanase 2 and Urofacial Syndrome, a Genetic Neuropathy." Adv Exp Med Biol 1221 (2020): 807-19.

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