(19)
(11) EP 1 592 786 B8

(12) CORRECTED EUROPEAN PATENT SPECIFICATION
Note: Bibliography reflects the latest situation

(15) Correction information:
Corrected version no 1 (W1 B1)

(48) Corrigendum issued on:
21.03.2012 Bulletin 2012/12

(45) Mention of the grant of the patent:
23.11.2011 Bulletin 2011/47

(21) Application number: 04709824.9

(22) Date of filing: 10.02.2004
(51) International Patent Classification (IPC): 
C12N 9/02(2006.01)
C12Q 1/68(2006.01)
A61K 31/7088(2006.01)
C12N 15/52(2006.01)
A61K 38/44(2006.01)
G01N 33/68(2006.01)
(86) International application number:
PCT/US2004/003632
(87) International publication number:
WO 2004/072275 (26.08.2004 Gazette 2004/35)

(54)

DIAGNOSIS AND TREATMENT OF MULTIPLE SULFATASE DEFICIENCY AND OTHER SULFATASE DEFICIENCIES USING A FORMYLGLYCINE GENERATING ENZYME (FGE)

DIAGNOSE UND BEHANDLUNG VON MULTIPLEN SULFATASE-ERKRANKUNGEN UND ANDEREN SULFATASE-ERKRANKUNGEN MIT HILFE EINES FORMYLGLYCIN BILDENDEN ENZYMS

DIAGNOSTIC ET TRAITEMENT DU DEFICIT MULTIPLE EN SULFATASES AINSI QUE D'AUTRES DEFICITS EN SULFATASES UTILISANT UNE ENZYME QUI PRODUIT FORMYLGLYCINE


(84) Designated Contracting States:
AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HU IE IT LI LU MC NL PT RO SE SI SK TR

(30) Priority: 11.02.2003 US 447747 P

(43) Date of publication of application:
09.11.2005 Bulletin 2005/45

(60) Divisional application:
10182644.4 / 2325302
10182740.0 / 2325301

(73) Proprietor: Shire Human Genetic Therapies, Inc.
Lexington MA 02421 (US)

(72) Inventors:
  • VON FIGURA, Kurt
    37085 Gottingen (DE)
  • SCHMIDT, Bernhard
    37073 Goettingen (DE)
  • DIERKS, Thomas
    33613 Bielefeld (DE)
  • HEARTLEIN, Michael, W.
    Boxborough, MA 01719 (US)
  • BALLABIO, Andrea
    I-80122 Naples (IT)
  • COSMA, Maria, Pia
    I-80134 Naples (IT)

(74) Representative: White, Martin Paul 
Whites IP Ltd 211 The Colonnades
Albert Dock Liverpool L3 4AB
Albert Dock Liverpool L3 4AB (GB)


(56) References cited: : 
WO-A-01/60991
   
  • SCHIRMER ANDREAS ET AL: "Computational analysis of bacterial sulfatases and their modifying enzymes" CHEMISTRY AND BIOLOGY (LONDON), vol. 5, no. 8, August 1998 (1998-08), pages R181-R186, XP002295627 ISSN: 1074-5521
  • FEY JENS ET AL: "Characterization of posttranslational formylglycine formation by luminal components of the endoplasmic reticulum" JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 276, no. 50, 14 December 2001 (2001-12-14), pages 47021-47028, XP002295628 ISSN: 0021-9258 cited in the application
  • DATABASE EMBL 18 September 2002 (2002-09-18), XP002296298 Database accession no. BD551115
  • DATABASE EMBL 26 March 2002 (2002-03-26), XP002296299 Database accession no. ABB62912
  • DATABASE EMBL 1 October 2001 (2001-10-01), XP002296300 Database accession no. Q98BQ8
  • DATABASE EMBL 13 December 2002 (2002-12-13), XP002296301 Database accession no. AK076022
  • DATABASE EMBL 23 May 2001 (2001-05-23), XP002296302 Database accession no. AAB88402
  • DATABASE EMBL 5 December 2000 (2000-12-05), XP002296303 Database accession no. AAY95971
  • DATABASE EMBL 24 July 2002 (2002-07-24), XP002296304 Database accession no. AAAB01008987
  • DATABASE EMBL 1 March 2001 (2001-03-01), XP002296305 Database accession no. Q9F3C7
  • DATABASE EMBL 1 May 1997 (1997-05-01), XP002296306 Database accession no. P95060
  • DATABASE EMBL 1 December 2001 (2001-12-01), XP002296307 Database accession no. Q92WL9
  • DATABASE EMBL 1 December 2001 (2001-12-01), XP002296308 Database accession no. Q93PA2
  • DATABASE EMBL 1 June 2001 (2001-06-01), XP002296309 Database accession no. Q9A921
  • SCHMIDT BERNHARD ET AL: "A Novel Amino Acid Modification in Sulfatases That Is Defective in Multiple Sulfatase Deficiency" CELL, vol. 82, no. 2, 1995, pages 271-278, XP002295629 ISSN: 0092-8674 cited in the application
  • DATABASE EMBL 1 October 2003 (2003-10-01), XP002296310 Database accession no. Q7V5N5
  • DATABASE EMBL 1 March 2003 (2003-03-01), XP002296311 Database accession no. Q8FTJ8
  • DATABASE EMBL 1 June 2003 (2003-06-01), XP002296312 Database accession no. Q88HK3
  • DIERKS THOMAS ET AL: "Multiple sulfatase deficiency is caused by mutations in the gene encoding the human Calpha-formylglycine generating enzyme." CELL, vol. 113, no. 4, 16 May 2003 (2003-05-16), pages 435-444, XP002295630 ISSN: 0092-8674
   
Note: Within nine months from the publication of the mention of the grant of the European patent, any person may give notice to the European Patent Office of opposition to the European patent granted. Notice of opposition shall be filed in a written reasoned statement. It shall not be deemed to have been filed until the opposition fee has been paid. (Art. 99(1) European Patent Convention).