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Treatment for Ichthyosiform Skin Diseases

Posted Nov 15 2012 7:00pm

Description of Invention:
A synthetic composition that contains the transglutaminase 1 (TGase I) enzyme and a lipid vesicle, which can be used to provide ameliorative therapy for inherited autosomal recessive ichthyoses (ARI). Icthyoses are rare inherited skin disorders that result in extensive scaling of the skin. Because this abnormality can affect heat and fluid transfer through the skin, individuals with this disease may have an increased risk for dehydration and skin infections. Each year, more than 16,000 babies are born with some form of ichthyosis. Ichthyosis affects people of all ages, races and gender. Currently, there is no cure for this disease and the only treatments available alleviate symptoms without affecting the disease itself. ARI are often caused by defects in lipid barrier function in the skin and are the result of genetic errors of either protein or lipid synthesis. One such disease, termed lamellar ichthyosis, is caused by genetic inactivation of the (TGase I) gene. The TGase I enzyme is essential for maintaining proper skin cornification, which protects skin cells against water loss and infection. Rather than simply treating the disease symptoms superficially, this technology provides a platform for treating the underlying cause of disease, namely the absence of TGase I function.

  • Treatment for ichthyosiform skin diseases
  • Method for correcting defects in skin cell cornification

Targets underlying cause of skin disorder rather than just treating the resulting symptoms.

Development Status:
  • Early-stage
  • In vitro data available

Peter M Steinert (NIAMS)
Nemes Zoltan (NIAMS)
Lyuben N Marckov (NIAMS)

Patent Status:
HHS, Reference No. E-149-1999/0
US, , Patent No. 6,852,686, Issued 08 Feb 2005

Relevant Publication:
  1. Candi E, et al. [ PMID 9593710 ]
  2. Yang YM, et al. [ PMID 11511296 ]

For Licensing Information Please Contact:
Suryanarayana Vepa Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Phone: 301-435-5020
Fax: 301-402-0220

Ref No: 1246

Updated: 11/2012

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