Claims for Patent: 6,824,972

Summary for Patent: 6,824,972

Title:	Diagnosis and treatment of medical conditions associated with defective NFkappa B(NF-.kappa.B) activation
Abstract:	Incontinentia Pigmenti (IP) is a neurocutaneous genodermatosis that segregates as an X-linked dominant disorder with a high probability of prenatal male lethality. A locus in Xq28 containing NF-.kappa.B Essential Modulator, a gene product involved in the activation of NF-kB and central to many pro-inflammatory and apoptotic pathways, contains mutations in the majority of cases of IP. Disclosed are methods, compositions and kits directed to a defect in a NF-.kappa.B related disease such as IP.
Inventor(s):	Kenwrick; Sue J. (Cambridge, GB), Woffendin; Hayley (Cambridge, GB), Munnich; Arnold (Paris, FR), Smahi; Asmae (Saint Ouen, FR), Israel; Alain (Paris, FR), Poustka; Annemarie (Heidelberg, 69120, DE), Heiss; Nina (Heidelberg, 69115, DE), D\'Urso; Michele (Naples, IT), Lewis; Richard A. (Houston, TX), Nelson; David L. (Houston, TX), Aradhya; Swaroop (Houston, TX), Levy; Moise (Houston, TX)
Assignee:	Baylor College of Medicine (Houston, TX) Cambridge University Technical Services Limited (Cambridge, GB) Consiglio Nazionale Delle Richerche (Rome, IT) INSERM (Cedex 13, FR) L\'Institut Pasteur (Paris, FR) Poustka; Annemarie (Heidelberg, DE) Heiss; Nina (Heidelberg, DE)
Application Number:	09/863,049
Patent Claims:	1. A method to detect Incontinentia Pigmenti in a human comprising the steps of: obtaining a sample from said human; and analyzing said sample for an alteration in a nucleic acid of SEQ ID NO:1. 2. The method of claim 1, wherein said alteration is a mutation, wherein said mutation is selected from the group consisting of a deletion, an insertion, a point mutation, a rearrangement in said sequence, and a combination thereof. 3. The method of claim 2, wherein said point mutation is selected from the group consisting of a nonsense mutation, a frameshift mutation, a missense mutation, a splicing-relate mutation, and a combination thereof. 4. The method of claim 1, wherein said alteration is located in a regulatory region, an exon, an intron, an initiator codon, a stop codon, exon/intron junction, a 5' untranslated region, a 3' untranslated region or a combination thereof. 5. The method of claim 1, wherein said analyzing step comprises a method selected from the group consisting of hybridization, SSCP, heteroduplex analysis, sequencing, polymerase chain reaction, electrophoresis, and a combination thereof. 6. A method to detect an alteration in a nucleic acid of SEQ ID NO:1 in a human, comprising the steps of: obtaining a sample from said human; and analyzing said sample for said alteration. 7. The method of claim 6, wherein said alteration is a mutation, wherein said mutation is selected from the group consisting of a deletion, an insertion, point mutation, a rearrangement, and a combination thereof. 8. The method of claim 7, wherein said point mutation is selected from the group consisting of a nonsense mutation, a frameshift mutation, a missense mutation, a splicing-relate mutation, and a combination thereof. 9. The method of claim 6, wherein said alteration is located in a regulatory region an exon, an intron, an initiator codon, a stop codon, an exon/intron junction, a 5' untranslated region, a 3' untranslated region or a combination thereof. 10. The method of claim 6, wherein said analyzing step comprises a method select d from the group consisting of hybridization, SSCP, heteroduplex analysis, sequencing, polymerase chain reaction, electrophoresis, and a combination thereof. 11. The method of claim 6, wherein said human is selected from the group consisting of an affected individual, a carrier individual, and a noncarrier individual. 12. The method of claim 6, wherein said analyzing step further comprises a technique selected from the group consisting of PCR analysis and Southern blot analysis. 13. The method of claim 12, wherein a probe for said Southern analysis is a nucleic acid SEQ ID NO:3, or fragments and derivatives thereof.

Details for Patent 6,824,972

Applicant	Tradename	Biologic Ingredient	Dosage Form	BLA	Approval Date	Patent No.	Expiredate
Merck Sharp & Dohme Corp.	INTRON A	interferon alfa-2b	For Injection	103132	06/04/1986		2020-05-22
Merck Sharp & Dohme Corp.	INTRON A	interferon alfa-2b	For Injection	103132			2020-05-22
Merck Sharp & Dohme Corp.	INTRON A	interferon alfa-2b	Injection	103132			2020-05-22