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Project Description

Please note that we are not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.

Refsum Disease (RD)

Refsum Disease is an uncommon genetic disorder characterized by the thickening of skin on the palms and soles, which may result due to genetic mutations such as KRT1, KRT9 and GJB2, in addition to acquired factors. Protheragen has created advanced preclinical drug and therapy services for Refsum disease using custom disease models and molecular technologies that greatly enhance the speed of therapeutic progress.

Overview of Refsum Disease

Refsum Disease is an uncommon type of peroxisomal disorder that falls under the autosomal recessive category and is marked by the buildup of phytanic acid and impaired alpha-oxidation. It is marked by mutations occurring in the PHYH (adult Refsum disease) or PEX7 (infantile Refsum disease) genes and causes progressive neurological, ocular, and cardiac manifestations. The primary symptoms are retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and anosmia. Emerging data suggests its global prevalence to be around 1 in 1,000,000 people, with the adult version of Refsum disease being the most widely found.

Schematic overview of metabolic pathways for phytanate metabolism.

Fig.1 Schematic overview of relevant metabolic pathways for phytanate metabolism. (Ukaji et al., 2025)

Diagnostic Development for Refsum Disease

Biomarker Innovations

Advanced lipidomic profiling now integrates high-speed mass spectrometry with microsampling techniques for improved quantification and sample stability. New multi-omics approaches to deep phenotype databases enable distinction of Refsum-specific peroxisomal breakdown from other overlapping metabolic defects. Point-of-care lipidomic biosensors that focus on its interactions with proteins are also being developed.

Next-Generation Genotyping

Complex structural variants and non-coding changes of PHYH/PEX7 are now more easily detected by long-read sequencing technologies due to other Permissive, Non-Essential Vistas. Aiding in diagnostic variant classification is Artificial Intelligence, allowing for the accelerated interpretation of growing databases on genomic annotations for use in mutation interpretation frameworks and lowering diagnostic clarity.

Therapeutics Development for Refsum Disease

Gene therapy and small molecules acting on the defective PHYH enzyme or peroxisomal function are potential areas for future research. Emerging strategies such as gene therapy and chaperones are currently being developed to correct the underlining genetic defect, alongside the dietary approach as the main pillar of management treatment.

Table.1 Therapeutic Development Strategies for Refsum Disease. (Truong et al., 2024)

Therapeutic Strategy	Target	Key Findings/Mechanism	Development Stage
Lovastatin (HMG-CoA Reductase Inhibitor)	Endogenous phytanic acid synthesis (peroxisomal)	Has potential for mild inhibition; principally for cholesterol reduction. Controversial in Refsum efficacy outcome.	Investigational
Gene Therapy	PHYH gene (phytanoyl-CoA hydroxylase)	Phytanic acid unclogging is performed by providing functional PHYH gene via gene therapy.	Preclinical
Small Molecule Chaperones	Mutant PHYH protein	Refolding chaperones restores the action of defective PYH enzyme.	Preclinical
Peroxisomal Function Enhancers	General peroxisomal function	Augments the peroxisomal function, rather grossly, but helpful to residual action beyond enzyme effectiveness.	Preclinical

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 provides comprehensive integrated services for the innovation of Refsum disease including the development of therapeutic development, diagnostics development, and disease models to facilitate translation of therapeutic solutions. Via advanced platforms, we guarantee seamless transitions from discovery to IND-enabling studies.

Therapeutic Development

Diagnostics Development

Biomarker Development
Single-Cell Spatial Transcriptomics
Peroxisomal Proteomic Profiling
Diagnostic Kit Development
Multiplex NGS Panels for PHYH/PEX7 Variants

Disease Model Development

Fibroblasts with PHYH/PEX7 Mutations
PHYH Knockout (KO) Hepatocytes
PHYH/PEX7 Mutant Keratinocytes
PHYH−/− Mice Model
PHYH Conditional Knockout Mice

Protheragen stands out by seamlessly applying advanced in vitro and in vivo technologies to expedite the preclinical development of Refsum Disease therapeutics. The integration of our services, such as drug safety evaluation and DMPK, supports the rapid optimization of strategies targeting phytanic acid metabolism modulation and peroxisomal function restoration for more detailed mechanistic and translational studies.

Partner with us to Refsum disease research into viable therapeutic innovations. For inquiries regarding our comprehensive services, please contact us.

References

Truong, P., et al. "Forty-Year Odyssey to Refsum Disease Diagnosis: Impact of Diagnostic Delay on Effective Treatment." Clin Exp Optom (2024): 1-4.
Wegrzyn, A. B., et al. "Fibroblast-Specific Genome-Scale Modelling Predicts an Imbalance in Amino Acid Metabolism in Refsum Disease." FEBS J 287.23 (2020): 5096-113.

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

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