Therapy of type 2 autosomal dominant osteopetrosis (ADO2) caused by mutation of the CLCN7 gene (ADO2 CLCN-dependent).

TitleTherapy of type 2 autosomal dominant osteopetrosis (ADO2) caused by mutation of the CLCN7 gene (ADO2 CLCN-dependent).
OwnerUniversity of L'Aquila
Description

The invention is in the ­field of molecules known as "small interfering RNA" with therapeutic applications. These molecules have the ability to reduce the expression of genes in an extremely speci­c way, allowing the function of cells, thanks to molecular manipulations previously precluded. The CLCN7- dependent ADO is a disease characterized by the absence of bone cell function called osteoclasts, and manifests itself with very dense but brittle bones, disorders in the production of blood cellular elements and sensory-motor functions, inflammation of the osteo-muscular apparatus, and dental problems. The disease, currently untreated, affects 5 individuals out of 100,000, and is caused by the mutation of a gene (CLCN7), essential for the function of osteoclasts.

In this context, a team of researchers from the University of L'Aquila developed siRNAs optimized for the treatment of ADO2 CLCN7-dependent disease, which act on the selective reduction of the mutated protein compared to the normal one.

The siRNA molecules developed have proved to be highly speci­c, eliminating at least 80% of the transcript of the mutated gene, restoring the function of the osteoclasts, and thus creating a situation similar to the normal functioning of the cells, and an improvement in the symptoms of the disease.

Date:01-29-2019
Applicants:UNIVERSITA' DEGLI STUDI DELL'AQUILA
Access to additional documentation:Please inquire
IPC classifications:A61K48/00IPC classifications:C12N15/113
Case Ref:2
Contact person:Luigi Di Domenico
Other:Alessandra Montesanti
Geographic scope:Regions:PCT
Application number:WO2015IB53730 20150521
Inventors:TETI ANNA MARIA; RUCCI NADIA; CAPULLI MATTIA; MAURIZI ANTONIO
Support from inventors:Please inquire
CPC classifications:C12N15/1138CPC classifications:C12N2310/14CPC classifications:C12N2320/34
Industry:Pharmaceutical
Transaction type:Subject to negotiation
Limitations:
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Publication number:IT102014902264100 (B1)
Publication date:2019-01-29
Additional publication numbers:119939
119940
119941
119942
119943
119944
Priority number:IT2014RM00272 20140523
Estimated expiry year:2034
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