Methods for the treatment and diagnosis of bone mineral density related diseases

Patent metadata

Field	Value
Publication number	US-9834820-B2
Application number	US-201414577177-A
Country	US
Kind code	B2
Filing date	Dec 19, 2014
Priority date	Dec 7, 2007
Publication date	Dec 5, 2017
Grant date	Dec 5, 2017

Abstract

Described herein are methods of the treatment and diagnosis of bone mineral density related disorders. More particularly, described herein are methods of diagnosing or predicting a bone mineral density related disease, or a risk of a bone mineral density related disease, in a subject, which method comprises detecting a mutation in the TBXAS1 gene, wherein the presence of such a mutation is indicative of a bone mineral density related disease or of a risk of a bone mineral density related disease. Also described are compounds such as a thromboxane synthase (TXAS) encoding polynucleotide, a TXAS, thromboxane A2 or an analog thereof for treating or preventing a disease associated with an increased bone mineral density (e.g., Ghosal hematodiaphyseal dysplasia syndrome). Additional aspects describe an inhibitor of TBXAS1 gene expression or a thromboxane inhibitor for treating or preventing a disease associated with a decreased bone mineral density (e.g., osteoporosis).

First claim

The invention claimed is:

1. A method for treating a disease associated with a decreased bone mineral density comprising administering to a subject in need thereof a compound selected from the group consisting of a thromboxane synthase inhibitor and a thromboxane receptor antagonist, wherein said disease associated with decreased mineral density is osteogenesis imperfecta.

2. The method of claim 1 , wherein said thromboxane synthase inhibitor or thromboxane receptor antagonist is selected from the group consisting of Ozagrel, Seratrodast and Picotamide.

Assignees

• Inserm (Institut National De La Sante Et De La Rech Medicale)
• Univ Paris Descartes
• Assist Publique-Hopitaux De Paris (Ap-Hp)
• Assist Publique—Hopitaux De Paris (Ap-Hp)

Inventors

• Cormier-Daire Valerie
• Munnich Arnold

Classifications

• A61P43/00

  Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00 · CPC title

• C12Q2600/136

  Screening for pharmacological compounds · CPC title

• A61K38/52

  Isomerases (5) · CPC title

• A61K31/357

  having two or more oxygen atoms in the same ring, e.g. crown ethers, guanadrel · CPC title

• A61P19/08

  for bone diseases, e.g. rachitism, Paget's disease · CPC title