Medical use of ras antagonists for the treatment of capillary malformation
OwnerMiikka Vikkula, Laurence Boon +1inventors
InventorsMiikka Vikkula, Laurence Boon, Liro Eerola
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Abstract
The invention relates to the field of vascular anomalies and methods for diagnosing and treating them. The invention provides for the causative gene (RASA1) and mutations therein which are useful for diagnosis of inherited capillary malformations. The invention further provides RASA1 antagonists for use in treatment of capillary malformations.
Claims30
A method of treating, preventing or alleviating vascular anomalies comprising administering a therapeutically effective amount of a substance able to convert active GTP bound Ras protein into inactive GDP bound Ras protein intracellularly in a cell to a mammal in need thereof.
A method of treating, preventing or alleviating vascular anomalies comprising administering a therapeutically effective amount of a substance that converts active GTP bound Ras protein into inactive GDP bound Ras protein in a cell to a mammal in need thereof.
A method of treatment, prevention or alleviation of vascular anomalies comprising administering to a mammal in need of such treatment, prevention or alleviation a therapeutically effective amount of a substance that inactivates GTP bound Ras protein in said mammal.
A method for diagnosis of inherited capillary malformation using a nucleic acid of at least 10 nucleotides having a sequence which is substantially complementary to a sequence in the RASA1 gene.
A probe for in vitro diagnosis of vascular anomalies in a subject carrying a mutation in the RASA1 gene, wherein said probe comprises a sequence of at least about 10 successive nucleotides substantially complementary to a sequence in the RASA1 gene wherein one of the following deletions or mutations occurs:
- RASA1ΔCT593-594, RASA1ΔGTCT1697-1700, RASA1ΔGC2454-2455, RASA1ΔT630, RASA11454(C>T), RASA1ΔGIVS17+1, or RASA1Δ1737(G>A).
A method for diagnosis of inherited capillary malformation using at least one nucleic acid substantially complementary to a sequence in the RASA1 gene, said sequence flanking the region wherein a mutation may occur.
A primer for in vitro diagnosis of vascular anomalies in a subject carrying a mutation in the RASA1 gene, wherein said primer comprises a sequence of from about 10 successive nucleotides specifically amplifying the sequence of the RASA1 gene wherein one of the following deletions or mutations occurs:
- RASA1ΔCT593-594, RASA1ΔGTCT1697-1700, RASA1ΔGC2454-2455, RASA1ΔT630, RASA11454(C>T), RASA1ΔGIV517-301, or RASA1Δ1737(G>A).
A primer comprising the sequence of any of SEQ ID NOs 3 to 61.
A method for in vitro diagnosis of inherited vascular malformations which comprises the use of a nucleic acid of at least 10 contiguous basepairs chosen from the sequence of the RASA1 gene.
A kit for in vitro diagnosis of vascular anomalies in a subject carrying a mutation in the RASA1 gene, said kit comprising at least one primer selected from the group consisting of SEQ ID NOs 3 to 61.
A method of treating, preventing or alleviating vascular anomalies comprising administering a therapeutic amount of a Ras antagonist or a Ras activity modulator to a mammal in need thereof.
(canceled)
Dependencies are inferred from the claim text.