Refsum Disease
The primary therapeutic challenge in Refsum disease lies in reversing or halting progressive neurological and retinal degeneration caused by irreversible phytanic acid accumulation. With our deep expertise in Refsum disease therapy development, Protheragen is well positioned to provide tailored solutions and comprehensive support to facilitate your journey from Refsum disease therapy research to commercialization.
Introduction to Refsum Disease
Refsum disease is a rare, autosomal recessive neurometabolic disorder characterized by the pathological accumulation of phytanic acid due to impaired peroxisomal α-oxidation. First described by Norwegian neurologist Sigvald Refsum in 1946, this condition falls under the broader category of leukodystrophies and peroxisomal biogenesis disorders. Clinically, Refsum disease manifests with a triad of retinitis pigmentosa, peripheral neuropathy, and cerebellar ataxia, though cardiac complications (e.g., conduction abnormalities) and anosmia are also common.
Fig.1 Phytanic acid impairs mitochondrial energy-dependent functions. (Schönfeld P, Reiser G., 2016)
Pathogenesis of Refsum Disease
Refsum disease is caused by defective peroxisomal α-oxidation of phytanic acid due to mutations in PHYH (encoding phytanoyl-CoA hydroxylase) or PEX7 (disrupting enzyme import). This results in toxic phytanic acid accumulation, which destabilizes myelin membranes, induces oxidative retinal damage, and impairs mitochondrial function, driving the hallmark neurological and ocular degeneration.
Therapeutic Development for Refsum Disease
| Drug Class | Drug Names | Mechanism of Action | Targets | Research Phase |
| Keratolytics | Salicylic acid | Disrupts keratin bonds, enhances desquamation of skin cells | Keratinocytes | Preclinical |
| Beta-blockers | Atenolol | Non-selective β-adrenergic receptor antagonism | β1/β2-adrenergic receptors | 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
Specializing in comprehensive solutions for Refsum disease, Protheragen integrates diagnostic development with cutting-edge in vitro diagnostic (IVD) kits for early disease identification. Our therapeutic development pipeline leverages exclusive disease models, such as physiologically representative blood-brain barrier (BBB) models, to expedite the exploration and authentication of central nervous system (CNS) targeted treatments.
Therapeutic Development Services
By Mechanism of Action
Disease Model Development Services
In Vitro Model Development
- Phyh Knockout Model: Disrupts phytanoyl-CoA hydroxylase, causing phytanic acid accumulation and mimicking Refsum disease pathology.
- SCP-2 Knockout Model: Lacks sterol carrier protein-2, impairing lipid metabolism and exacerbating phytanic acid toxicity in tissues.
Specializing in comprehensive preclinical assessment, Protheragen offers professional pharmacodynamic (PD), pharmacokinetic (PK) and toxicology research services to accelerate the therapeutic development of Refsum disease. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Schönfeld P, Reiser G. Brain lipotoxicity of phytanic acid and very long-chain fatty acids. Harmful cellular/mitochondrial activities in Refsum disease and X-linked adrenoleukodystrophy[J]. Aging and disease, 2016, 7(2): 136.