The United States of America, As Represented by the Secretary, Department of Health and Human Services

Emory University

William A Gahl

Marjan Huizing

Irini Manoli

Enriko Klootwijk

Brian P Brooks

George Kunos

Malliga R Iyer

Resat Cinar

Bernadette R Gochuico

Nuria Carrillo-Carrasco

May Christine Vergara Malicdan

Miao He

Xueli Li

Rong Jiang

A compound, or a pharmaceutically acceptable salt or ester thereof, comprising (i) a CBreceptor mediating scaffold and (ii) a second therapeutic scaffold.

Cannabinoid receptor mediating compounds

The invention relates to compositions and methods for treating kidney and muscle dysfunction that involves use of therapeutic amounts of N-acetyl mannosamine.

N-acetyl mannosammine as a therapeutic agent

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.

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

Methods are disclosed for diagnosing a hyposialylation disorder. Methods are also disclosed for determining the effectiveness of a therapeutic agent for treatment of a hyposialylation disorder in a subject. These methods include measuring an amount of monosialylated Thomsen-Friedenreich (ST) antigen and measuring an amount of non-sialylated Thomsen-Friedenreich antigen (T) in a biological sample, such as a serum or plasma sample from the subject and determining the ratio of T to ST. A ratio of T to monosialylated ST of about 0.06 or higher diagnoses the hyposialylation disorder or indicates that the therapeutic agent is not effective for the treatment of the hyposialylation disorder. In other embodiments, a ratio of T to ST less than about 0.06 indicates that the therapeutic agent is effective for the treatment of the hyposialylation disorder, or the subject does not have the hyposialylation disorder. In additional embodiments, these methods can be used to determine the lowest effective dosage of the therapeutic agent of use to treat the subject.

Hyposialylation disorders

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N-acetyl mannosamine as a therapeutic agent

Growing community of inventors

Kensington, MD, United States of America

William A Gahl