Hermansky-Pudlak syndrome (HPS) may manifest with platelet abnormality, the electron microscopy of platelets revealing absent δ-granules. Protheragen takes pride in the highly qualified researchers and scientists specializing in HPS. They are fully committed to developing innovative solutions for HPS as they strive to bridge the existing HPS treatment gap and push the boundaries in HPS targeted treatment development.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defects in lysosome-related organelles (LROs), resulting in a clinical triad of oculocutaneous albinism, platelet dysfunction, and systemic complications, especially progressive pulmonary fibrosis in severe subtypes.
Table 1 Some subtypes of Hermansky-Pudlak syndrome (HPS).
| Subtypes | Gene Defect | Defective Protein Complex | Platelet Defect | Hallmark Feature |
|---|---|---|---|---|
| HPS-1 | HPS1 | BLOC-3 | δ-granule deficiency | Severe pulmonary fibrosis |
| HPS-2 | AP3B1 | AP-3 adaptor complex | δ-granule + lysosomal deficiency | Neutropenia, immunodeficiency |
| HPS-3 | HPS3 | BLOC-2 | Partial δ-granule deficiency | Mild bleeding, no fibrosis |
Hermansky-Pudlak syndrome (HPS) has its origin in mutations of the genes HPS1-HPS11 which are responsible for coding a particular group of proteins (BLOC-1/2/3 or AP-3) critical for building lysosome-related organelles (LROs). The intracellular trafficking pathways are disrupted because of these faults, resulting in the deficiency of platelet granules, dysfunction of melanosomes, and TGF-β-mediated pulmonary fibrosis. Also, the HPS-2 variants demonstrate some degree of immunodeficiency due to dysfunctional cytotoxic T cell activity resultant from AP-3 complex defects.
Fig.1 The main pathological cause of Hermansky–Pudlak syndrome (HPS)-associated pulmonary fibrosis. (Hu X, et al., 2024)
Current therapeutic options remain supportive, including platelet transfusions and antifibrotic therapy, and new therapies are urgently needed to address the complexity of this multisystem disease.
Table 2 Pipeline of antifibrotic therapies for Hermansky-Pudlak syndrome (HPS).
| Therapy | Mechanism of Action | Targets | Development Stage |
|---|---|---|---|
| Pirfenidone | Inhibits TGF-β signaling and collagen synthesis by reducing fibroblast proliferation and extracellular matrix production. | TGF-β1, PDGF, TNF-α | Clinically used |
| Nintedanib | Blocks multiple tyrosine kinase receptors involved in fibrotic signaling pathways. | VEGFR1-3, PDGFRα/β, FGFR1-3 | Clinically used |
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.
Protheragen is the service provider focusing on research for frontier innovation together with diagnostics and therapeutics for Hermansky-Pudlak syndrome (HPS). Our services includes biomarker development and in vitro diagnostic (IVD) kit development as well as therapeutic development aimed at disrupting HPS pathogenesis. Employing sophisticated disease models and preclinical studies, we meticulously test each solution to provide them with clinical utility, that matters in practice for the complex conditions.
Animal Model Development Services
At Protheragen, we are committed to validating and optimizing therapies for Hermansky-Pudlak syndrome (HPS) through preclinical studies including pharmacodynamics (PD), pharmacokinetics (PK) and toxicology to ensure their successful regulatory approval. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
Myeloproliferative Disorders (MPDs)
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