Georgetown University Medical Center

Treatment of Genetic Skin Disorders with Inhibitors

Section: For Industry

Categories: "Other Disorders"

Reference #: 2007-015

OTC Contact: Tracy Bruehs, M.S., J.D. (Directory Information | Send a Message)

Description

Skin diseases affect millions of people worldwide. Thus far, about 170 skin conditions have been identified as having a monogenetic basis (skin disorders inhabiting a single gene). Traditional methods of treating genetic skin disorders have included steroids, antibiotics and retinoids. These treatments have many side-effects and limited success. Georgetown University has uncovered a benefit of using specific inhibitors to treat keratinization skin disorders, including Darier’s Disease, Hailey-Hailey Disease, Tay’s syndrome, eurythrodemic and nonerythrodermic autosomal recessive lamellar ichthyosis, Netherton syndrome, ichthyosis vulgaris, keratosis pillaris, bullous ichthyiosiform erythroderms, Harlequin ichthyosis, and Sjogreen Larsson syndrome, among others.

Applications

  • The inhibitors identified in the patent treat autosomal dominant or autosomal recessive keratinization disorders characterized by hyperkeratosis, keratinocyte hyperplasia or ichthyosis. Also proven effective are delivery systems for identified inhibitors that inhibit signal transduction pathways.
  • The patent application claims other potential routes of drug administration, including topical.

Advantages

  • Limited side effects compared to steroids, antibiotics and retinoids (such as Accutane® or Soriatane®), which may result in burning, red, scaling skin and potential bone toxicity with long term use.
  • The identified inhibitors in this patent have been shown to be well tolerated; already FDA approved for other indications; used in human populations with little side effects; is less toxic than alternatives; and has more dramatic reduction in skin lesions.
  • May be administered to people with known genetically mutated alleles prior to onset of symptoms, to prevent manifestation of disease.   

Stage of Development

Research and development stage for skin disorders, but shown effective in a patient being treated for another disorder; already FDA approved and used in general population for other indications.      

INVENTOR: Doru Alexandrescu

Relevant Publications

No references or resources available.

Patent Status

Provisional application, 61/022,067 filed January 18, 2008;
PCT to be filed January 2009.