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Last Updated: October 1, 2020

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Patent: 6,150,091

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Summary for Patent: 6,150,091
Title: Direct molecular diagnosis of Friedreich ataxia
Abstract:This invention relates generally to methods for the diagnosis and therapeutic treatment of Friedreich Ataxia. Friedreich ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous system and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. The gene encodes a 210 amino acid protein, frataxin, that has homologues in distant species such as C. elegans and yeast. A few FRDA patients have been found to have point mutations in X25, but the vast majority are homozygous for a variable, unstable GAA trinucleotide expansion in the first X25 intron. Mature X25 mRNA was severely reduced in abundance in individuals with FRDA. Carriers and individuals at risk for developing FRDA can be ascertained by the methods of the present invention. Further, the methods of the present invention provide treatment to those individuals having FRDA.
Inventor(s): Pandolfo; Massimo (Graglia, IT), Montermini; Laura (Milan, IT), Molto; Maria D. (Valencia, ES), Koenig; Michael (Plobesheim, FR), Campuzano; Victoria (Strasbourg, FR), Cossee; Mireille (Strasbourg, FR)
Assignee: Baylor College of Medicine (Houston, TX) INSERM (Paris, FR)
Application Number:08/611,587
Patent Claims:see list of patent claims

Details for Patent 6,150,091

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 003 1986-06-04   Start Trial Baylor College of Medicine (Houston, TX) INSERM (Paris, FR) 2039-02-26 RX search
Schering INTRON A interferon alfa-2b VIAL 103132 002 1986-06-04   Start Trial Baylor College of Medicine (Houston, TX) INSERM (Paris, FR) 2039-02-26 RX search
Schering INTRON A interferon alfa-2b VIAL 103132 001 1986-06-04   Start Trial Baylor College of Medicine (Houston, TX) INSERM (Paris, FR) 2039-02-26 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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