Compositions and methods for treating galactosemia
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Publication Number
US-11590131-B2
Publication Date
2023-02-28
Expiration Date
Abstract
The disclosure relates to methods for treating galactosemia and manifestations of galactosemia using aldose reductase inhibitors.
Core Innovation
The disclosure relates to a method of treating galactosemia or preventing complications associated with galactosemia by administering a therapeutically effective amount of an aldose reductase inhibitor to a subject in need thereof. The aldose reductase inhibitor is a compound of Formula (III) or a pharmaceutically acceptable salt thereof, with substituent definitions provided for R1, R2, X1, X2, Y, Z, A1–A3, R3–R6, and R7.
The described treatment is grounded in the role of aldose reductase in converting elevated galactose to galactitol, where galactitol accumulation is presented as contributing to hypertonicity and oxidative stress. The disclosure further connects this pathway to downstream tissue pathology and multi-organ complications, spanning liver, central nervous system, eyes, and ovaries, as applicable to galactosemia.
The therapeutic approach includes reducing or preventing galactitol levels and associated clinical manifestations. The methods cover treating cataracts and treating or preventing cognitive or neurological deficiency associated with galactosemia, and they further include complication and biomarker targets such as increased alditol or galactitol levels in blood, urine, and intraocular fluid, as well as organ- and phenotype-level complications including retinopathy, cataracts, ovarian dysfunction, and neurological deficits.
Claims Coverage
The independent claims cover four main method categories: treating galactosemia or preventing complications, reducing galactitol level, treating cataracts, and treating or preventing cognitive or neurological deficiency associated with galactosemia. Across the set, the inventive features are centered on administering aldose reductase inhibitors defined by Formula (III), together with targeted disease and complication objectives.
Treating galactosemia or preventing complications
Administering a therapeutically effective amount of an aldose reductase inhibitor to a subject in need thereof, wherein the aldose reductase inhibitor is a compound of Formula (III) or a pharmaceutically acceptable salt thereof.
Reducing galactitol level
Reducing the amount or level of galactitol in a subject with galactosemia by administering a therapeutically effective amount of an aldose reductase inhibitor, wherein the aldose reductase inhibitor is a compound of Formula (III) or a pharmaceutically acceptable salt thereof.
Treating cataracts
Administering a therapeutically effective amount of an aldose reductase inhibitor to a subject in need thereof, wherein the aldose reductase inhibitor is a compound of Formula (III) or a pharmaceutically acceptable salt thereof.
Treating or preventing cognitive or neurological deficiency associated with galactosemia
Administering a therapeutically effective amount of an aldose reductase inhibitor to a subject with galactosemia, wherein the aldose reductase inhibitor is a compound of Formula (III) or a pharmaceutically acceptable salt thereof.
Across the independent claims, coverage is directed to administering aldose reductase inhibitors defined as compounds of Formula (III) or pharmaceutically acceptable salts for treating galactosemia or preventing associated complications, reducing galactitol levels, treating cataracts, and treating or preventing cognitive or neurological deficiencies associated with galactosemia.
Stated Advantages
Reduces or prevents galactitol accumulation and associated galactosemia complications across organs including liver, central nervous system, eyes, and ovaries.
Reduces the amount or level of galactitol in a subject with galactosemia.
Treats cataracts.
Treats or prevents cognitive or neurological deficiency associated with galactosemia.
Documented Applications
Treating galactosemia or preventing galactosemia-associated complications by administering an aldose reductase inhibitor defined by Formula (III).
Reducing the amount or level of galactitol in a subject with galactosemia.
Treating cataracts.
Treating or preventing cognitive or neurological deficiency associated with galactosemia.
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