Nitisinone for treatment of oculocutaneous/ocular albinism and for increasing pigmentation

US8822540B2 · kind B2 · utility

Assignee

• The United States of America, as represented by the Secretary, Department of Health and Human Services · US

Inventors

• Brian P. Brooks · Kensington, US
• William A. Gahl · Kensington, US

Key dates

• Filing date: Feb 25, 2011
• Grant date: Sep 2, 2014
• Expiry date: Feb 25, 2031

Classification

• Technology area (CPC A): Human Necessities
• CPC primary: A61Q19/04
• WIPO field: Pharmaceuticals
• WIPO sector: Chemistry

Abstract

A method is provided for the treatment of vision problems in a subject suffering from one of various forms of albinism, including, for example, oculocutaneous albinism types OCA1a and OCA1b, as well as ocular albinism type 1, resulting from mutations in the GPR143 gene, as well as the OCA2, OCA3 or OCA4 genes, by administering to the subject a pharmaceutical composition comprising a therapeutically effective amount of the compound (2-[2-nitro-4-(trifluoromethyl)benzoyl]cyclohexane-1,3-dione), also known as NTBC for a sufficient period of time. The administration of NTBC is believed to increase the amount of pigmentation in the subject and alleviate certain symptoms caused by lack of pigmentation in the eye tissues. Also described are methods of use of NTBC for increasing the pigmentation of a subject for cosmetic purposes, by administering to the subject a therapeutically effective amount of NTBC.