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Last Updated: March 28, 2020

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Claims for Patent: 7,682,787

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Summary for Patent: 7,682,787
Title:Compositions and methods for treating disorders associated with abnormal phosphate metabolism
Abstract: The present invention uncovers that mutations in GALNT3 gene encoding UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T3) cause familial tumoral calcinosis (FTC). Methods and pharmaceutical compositions useful for treating disorders associated with abnormal phosphate metabolism are provided. Specifically, inducers of GalNAc-T3 can be used to treat hyperphosphatemia related disorders such as FTC, and on the other hand, inhibitors of GalNAc-T3 can be used to treat disorders associated with hypophosphatemia, such as hypophosphatemic rickets.
Inventor(s): Sprecher; Eli (Kiryat Tivon, IL), Bergman; Reuven (Haifa, IL)
Assignee: Technion Research & Development Foundation Ltd. (Haifa, IL)
Application Number:10/870,030
Patent Claims:1. A method of diagnosing familial tumoral calcinosis (FTC) in a human individual, the method comprising identifying in a polynucleotide sequence consisting of SEQ ID NO:29 or 33 of the individual, a C.fwdarw.T transition at position 484 of SEQ ID NO:29 and a G.fwdarw.A transition at position 1524+5 (intron 7 of SEQ ID NO:33) in compound heterozygous form, thereby diagnosing familial tumoral calcinosis in the individual.

2. A method of identifying a molecular basis of familial tumoral calcinosis (FTC) in a human individual diagnosed with the FTC, the method comprising identifying in a polynucleotide sequence consisting of SEQ ID NO:29 or 33 of the individual at least one nucleic acid substitution selected from the group consisting of a C.fwdarw.T transition at position 484 of SEQ ID NO:29, a G.fwdarw.A transition at position 1524+1 (intron 7 of SEQ ID NO:33) and a G.fwdarw.A transition at position 1524+5 (intron 7 of SEQ ID NO:33), wherein said nucleic acid substitution is present in the individual in a homozygous form or a compound heterozygous form, thereby identifying the molecular basis familial tumoral calcinosis in the individual.

3. The method of claim 1, wherein said identifying is effected using a method selected from the group consisting of DNA sequencing, restriction fragment length polymorphism (RFLP analysis), allele specific oligonucleotide (ASO) analysis, Denaturing/Temperature Gradient Gel Electrophoresis (DGGE/TGGE), Single-Strand Conformation Polymorphism (SSCP) analysis, Dideoxy fingerprinting (ddF), pyrosequencing analysis, acycloprime analysis, Reverse dot blot, GeneChip microarrays, Dynamic allele-specific hybridization (DASH), Peptide nucleic acid (PNA) and locked nucleic acids (LNA) probes, TaqMan, Molecular Beacons, Intercalating dye, FRET primers, AlphaScreen, SNPstream, genetic bit analysis (GBA), Multiplex minisequencing, SNaPshot, MassEXTEND, MassArray, GOOD assay, Microarray miniseq, arrayed primer extension (APEX), Microarray primer extension, Tag arrays, Coded microspheres, Template-directed incorporation (TDI), fluorescence polarization, Colorimetric oligonucleotide ligation assay (OLA), Sequence-coded OLA, Microarray ligation, Ligase chain reaction, Padlock probes, Rolling circle amplification, and Invader assay.

4. The method of claim 1, wherein said identifying is effected using DNA sequencing of a GALNT3 RT-PCR product.

5. The method of claim 2, wherein said identifying at least one nucleic acid substitution in said polynucleotide sequence consisting of SEQ ID NO:33 is effected using a method selected from the group consisting of DNA sequencing, restriction fragment length polymorphism (RFLP analysis), allele specific oligonucleotide (ASO) analysis, Denaturing/Temperature Gradient Gel Electrophoresis (DGGE/TGGE), Single-Strand Conformation Polymorphism (SSCP) analysis, Dideoxy fingerprinting (ddF), pyrosequencing analysis, acycloprime analysis, Reverse dot blot, GeneChip microarrays, Dynamic allele-specific hybridization (DASH), Peptide nucleic acid (PNA) and locked nucleic acids (LNA) probes, TaqMan, Molecular Beacons, Intercalating dye, FRET primers, AlphaScreen, SNPstream, genetic bit analysis (GBA), Multiplex minisequencing, SNaPshot, MassEXTEND, MassArray, GOOD assay, Microarray miniseq, arrayed primer extension (APEX), Microarray primer extension, Tag arrays, Coded microspheres, Template-directed incorporation (TDI), fluorescence polarization, Colorimetric oligonucleotide ligation assay (OLA), Sequence-coded OLA, Microarray ligation, Ligase chain reaction, Padlock probes, Rolling circle amplification, and Invader assay.

6. The method of claim 2, wherein said identifying said at least one nucleic acid substitution in said polynucleotide sequence consisting of SEQ ID NO:29 is effected using DNA sequencing of a GALNT3 RT-PCR product.

Summary for Patent:   Start Trial

Foriegn Application Priority Data
Foreign Country Foreign Patent Number Foreign Patent Date
Israel161886May 9, 2004

Details for Patent 7,682,787

Applicant Tradename Biologic Ingredient Dosage Form BLA Number Approval Date Patent No. Assignee Estimated Patent Expiration Status Orphan Source
Schering INTRON A interferon alfa-2b VIAL 103132 001 1986-06-04   Start Trial Technion Research & Development Foundation Ltd. (Haifa, IL) 2024-05-09 RX search
Schering INTRON A interferon alfa-2b VIAL 103132 002 1986-06-04   Start Trial Technion Research & Development Foundation Ltd. (Haifa, IL) 2024-05-09 RX search
Schering INTRON A interferon alfa-2b VIAL 103132 003 1986-06-04   Start Trial Technion Research & Development Foundation Ltd. (Haifa, IL) 2024-05-09 RX search
>Applicant >Tradename >Biologic Ingredient >Dosage Form >BLA >Number >Approval Date >Patent No. >Assignee >Estimated Patent Expiration >Status >Orphan >Source

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