Methods of treatment with aminolevulinic acid synthase 2 (ALAS2) modulators
AssigneeAgios Pharmaceuticals, Inc.
InventorsShengfang Jin, Barden Chan, Gavin Whissell
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Abstract
Described herein is a compound of Formula I or a pharmaceutically acceptable salt thereof: wherein Ring A R1, R2, a, b, and n are as defined herein. Also described is a method of treating a subject having a disorder in need of treatment, comprising inhibiting aminolevulinic acid synthase 2 (ALAS2) in the subject by administering a compound of Formula (I) or a pharmaceutically acceptable salt thereof. Disorders that are of particular interest are blood disorders, such as porphyria and anemia.
Claims15
A mouse (Mus musculus) as an animal model for X-linked protoporphyria (XLP), wherein the mouse comprises a genomic ALAS2 (5-AminoLevulinic Acid Synthase 2)-delAT mutation at the mouse ALAS2 locus comprising the genomic DNA sequence of SEQ ID NO:
- 5, wherein the mouse has an elevated level of blood protoporphyrin IX (PPIX) and Zn-PPIX compared to a syngeneic wild-type mouse, and wherein the genomic ALAS2-delAT mutation encodes a mutant ALAS2 protein comprising an M567E substitution followed by a C-terminal deletion, and corresponds to or recapitulates the human ALAS2-delAT (c.1699_1670ΔAT) mutation in an XLP human patient.
Dependencies are inferred from the claim text.