Vyjuvek for DEB Earns Orphan Drug Designation in Japan

Healio Psoriatic Disease recently reported that Vyjuvek (beremagene geperpavec-svdt), a topical gene therapy designed for people with dystrophic epidermolysis bullosa (DEB), was granted Orphan Drug designation (ODD) by the Japanese Ministry of Health, Labour and Welfare (MHLW). 

Vyjuvek, which was FDA-approved in the United States in May 2023, can be re-dosed, making the treatment the first of its kind. Applied topically, Vyjuvek promotes wound healing in people ages 6 months or older with DEB. It does this by delivering new COL7A1 gene copies (the mutated gene in DEB) straight to skin wounds to help the body to create collagen VII protein. Learn more about Vyjuvek and how it works

So what does it mean that Vyjuvek has earned this status in Japan? The MHLW explains that ODD is granted to gene therapy products, medical devices, and pharmaceutical products designed to treat conditions in Japan that affect under 50,000 individuals and for whom there is a high medical need. It can be difficult to spur drug development in the rare disease space, so this designation also comes with incentives such as:

  • Subsidy payments to reduce the financial burden of product development
  • 12% of study expenses reported as tax credits
  • Additional guidance and consultation from the MHLW and other agencies
  • Priority review

About Dystrophic Epidermolysis Bullosa (DEB

COL7A1 gene mutations cause dystrophic epidermolysis bullosa, which falls under the larger umbrella of epidermolysis bullosa. This gene is responsible for type VII collagen which plays a role in connective tissue structure and strength. When COL7A1 becomes mutated, the skin becomes extremely fragile. People with DEB experience easy skin blistering and, in some cases, areas of missing skin. While DEB itself is a subtype of EB, DEB is also broken down into categories:

  • Recessive dystrophic epidermolysis bullosa severe generalized (RDEB-sev gen)
    • As the name suggests, this is the most severe form of DEB. Children are often born with missing and blistered skin, and blisters may be seen all over the body (including the mucous membranes).
    • Additional symptoms include skin scarring, feeding difficulties, slowed growth, muscle contractures, fused skin between the fingers and toes, eye inflammation, fingernail and toenail loss, and an increased risk of squamous cell carcinoma (SCC). 
  • RDEB generalized and localized (RDEB-gen and -loc)
    • Blistering may occur on the knees, hands, feet, and elbows—though it can occur in other areas of the body in more severe cases. People with this form may also have skin scarring and malformed fingernails.
  • Dominant dystrophic epidermolysis bullosa (DDEB) 
    • This is the mildest DEB subtype. Blistering may occur on the hands, elbows, knees, and feet. Scarring may occur but isn’t as severe as other forms. Some individuals may have missing or malformed fingernails or toenails. 
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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