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OwnerPar Gellerfors, Jens Foghinventors
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A method for treatment or prophylaxis of disease caused by deficiency, in a subject, of an enzyme belonging to the heme biosynthetic pathway, the method comprising administering, to the subject, an effective amount of a catalyst which is said enzyme or an enzymatically equivalent part or analogue thereof. The disease is selected from the group consisting of acute intermittent porphyria (AIP), ALA deficiency porphyria (ADP), Porphyria cutanea tarda (PCT), Hereditary coproporphyria (HCP), Harderoporphyria (HDP), Variegata porphyria (VP), Congenital erythropoetic porphyria (CEP), Erythropoietic protoporphyria (EPP), and Hepatoerythropoietic porphyria (HEP). The catalyst is one or more enzymes selected from the group consisting of delta-aminolevulininic acid synthetase, delta-aminolevulinic acid dehydratase (ALAD), porphobilinogen deaminase (PBGD), uroporphyrinogen III cosythetase, uroporphyrinogen decarboxylase, coproporphyrinogen oxidase, protoporphyrinogen oxidase, and ferrochelatase, or an enzymatically equivalent part or analogue thereof. In addition the invention relates to the use of PBGD, to human recombinant PBGD and to a method of gene therapy. The invention also relates to an expression plasmid pExp1-M2-BB (Seq. ID No. 1) and to use of a DNA fragment, the EcoR I-Hind III linear fragment (seq. ID No. 2), used for transformation in the hemC disruption strategy for production of rhPBGD expressed in E. coli.
A method for treatment or prophylaxis of disease caused by deficiency, in a subject, of one or more enzymes belonging to the heme biosynthetic pathway, the method comprising administering, to the subject, an effective amount of one or more catalysts which is/are said enzyme(s), or an enzymatically equivalent part or analogue thereof.
A method for treating a patient having a mutation in the PBGD gene causing an enzyme defect, comprising the use of a human PBGD cDNA sequence of either non-erythropoietic form or erythropoietic form according to whether the tissue in which PBGD should be expressed is in cells of erythroid origin or in other cells, and transfection of the patient with the relevant cDNA.
A method of gene therapy treatment of patients with Acute Intermittent Porphyria (AIP) by a correction of one of the specific point mutations identified causing AIP by use of chimeraplasty gene repair.
A pharmaceutically acceptable composition comprising a therapeutically or prophylactically effective amount of catalyst which is an enzyme of the heme biosynthetic pathway or an enzymatically equivalent part or analogue thereof.
Dependencies are inferred from the claim text.