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Refsum Disease Companies

Refsum disease, also known as heredopathia atactica polyneuritiformis or phytanic acid storage disease, is a rare inherited disorder characterized by the accumulation of phytanic acid in the body. This condition is caused by mutations in the PHYH gene, leading to impaired breakdown of phytanic acid, which is a fatty acid derived from certain foods.

Top Industry Leaders in the Refsum Disease Market

Refsum Disease Key Companies

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Latest Refsum Disease Companies Update


Atsena Therapeutics receives FDA authorization for Phase 1/2 gene therapy trial for X-linked Retinoschisis (XLRS) marks a significant step forward in developing potential treatments for Refsum Disease, as XLRS is one of the associated conditions.


Gene editing research accelerates Companies like Editas Medicine and Voyager Therapeutics are actively exploring gene editing therapies for Refsum Disease, focusing on correcting the underlying genetic mutations.


Editas Medicine and Voyager Therapeutics are actively exploring gene editing therapies for Refsum Disease, focusing on correcting the underlying genetic mutations.Development of more accurate and accessible diagnostic tools, such as next-generation sequencing, allows for earlier and more precise diagnosis of Refsum Disease.


List of Refsum Disease Key Companies in the Market



  • Fresenius Kabi

  • Braun Medical Inc.

  • Medline Industries Inc.

  • Illumina Inc.

  • Igenomix

  • Ceuta Healthcare Limited

  • Cochlear Ltd.

  • Cook

  • Sonova

  • William Demant Holding A/S

  • Nurotron Biotechnology Co. Ltd.

  • Agilent Technologies

  • Bio-Rad Laboratories Inc.

  • Sequenom


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