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Nitisinone for Treatment of Oculocutaneous/Ocular Albinism and for Increasing Pigmentation

Posted Dec 07 2010 7:00pm

Description of Invention:
Albinism (also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect in any one of a number of proteins involved in the production of melanin. Certain forms of albinism are known to be due to mutations in tyrosine metabolism. In oculocutaneous albinism (OCA), pigment is lacking in the eyes, skin and hair. In ocular albinism, only the eyes lack pigment. Patients with albinism experience varying degrees of vision loss associated with foveal hypoplasia, nystagmus, photophobia and/or glare sensitivity, refractive errors, and abnormal decussation of ganglion cell axons at the optic chiasm. Current treatment options for vision problems caused by albinism are limited to correction of refractive errors and amblyopia, low vision aids, and (in some cases) extraocular muscle surgery.

Nitisinone (NTBC) is an FDA-approved drug used in the treatment of tyrosinemia, type 1. The drug blocks the normal degradation pathway of tyrosine thus allowing greater circulating plasma levels of tyrosine. NIH investigators have identified that administration of NTBC to subjects (e.g., mice or humans) with certain forms of albinism, can result in increased circulating tyrosine levels, an increase in tyrosinase activity, and, subsequently, increased pigmentation.

This technology provides methods for increasing tyrosine plasma concentrations in patients suffering from oculocutaneous albinism or ocular albinism by administering a pharmaceutically acceptable composition of NTBC. Specifically, this technology can be useful in treating patients with type OCA1a albinism, who possess no measurable tyrosinase activity, or type OCA1b albinism, who exhibit greatly diminished tyrosinase activity.

Applications for this technology include treatment of impaired vision in patients suffering from oculocutaneous albinism, or ocular albinism, and as a treatment for increasing pigmentation in the eyes, hair and/or skin of patients.

Inventors:
Brian P. Brooks (NEI)
William A Gahl (NHGRI)
David R Adams (NHGRI)


Patent Status:
HHS, Reference No. E-113-2010/0
US, Application No. 61/308,771 filed 26 Feb 2010


Licensing Status:
Available for licensing

Collaborative Research Opportunity:
The National Eye Institute, Ophthalmic Genetics and Visual Function Branch, is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize the use of nitisinone (NTBC) for oculocutaneous albinism or as a treatment for increasing pigmentation in the eyes, hair and/or skin of patients. Please contact Alan Hubbs, Ph.D. at 301-594-4263 or hubbsa@mail.nih.gov for more information.


Portfolios:
Internal Medicine
Internal Medicine - Therapeutics
Ophthalmology
Ophthalmology - Therapeutics



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


Ref No: 2203

Updated: 12/2010

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