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

US9834820B2 · kind B2 · utility

Assignees

• INSERM (INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE) · FR
• UNIVERSITE DE PARIS DESCARTES · FR
• ASSISTANCE PUBLIQUE—HÔPITAUX DE PARIS (APHP) · FR

Inventors

• Valerie Cormier-Daire · Paris, FR
• Arnold Munnich · Paris, FR

Key dates

• Filing date: Dec 19, 2014
• Grant date: Dec 5, 2017
• Expiry date: Dec 19, 2034

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Y503/99005
• WIPO field: Pharmaceuticals
• WIPO sector: Chemistry

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).