➤ Get the DrugPatentWatch Daily Briefing

Get Daily Updates on Generic Entry, Litigation, Biosimilars, and more …

Serving leading biopharmaceutical companies globally:

Colorcon
Merck
Dow
Baxter
McKesson
AstraZeneca

Last Updated: September 24, 2020

DrugPatentWatch Database Preview

Claims for Patent: 7,998,667

➤ Get the DrugPatentWatch Daily Briefing
» See Plans and Pricing

« Back to Dashboard

Summary for Patent: 7,998,667
Title:Mutations of the parkin gene, compositions, methods and uses
Abstract: The invention concerns nucleic acids coding for mutated or truncated forms of the human parkin gene, or forms comprising multiplication of exons, and the corresponding proteins and antibodies. The invention also concerns methods and kits for identifying mutations of the parkin gene, and for studying compounds for therapeutic purposes.
Inventor(s): Brice; Alexis (Paris, FR), Lucking; Christophe (Paris, FR), Denefle; Patrice (Saint Maur, FR), Ricard; Sylvain (Paris, FR), Abbas; Nacer Eddine (Paris, FR), Bouley; Sandrine (Bletterans, FR)
Assignee: Aventis Pharma S.A. (Antony, FR) Institut National Sante et Recherche Medicale (Paris, FR)
Application Number:09/856,290
Patent Claims:1. A method for detecting an autosomal recessive parkinsonian syndrome in a symptomatic subject comprising analyzing a nucleic acid sample obtained from said subject for the presence of one or more heterozygous genetic alterations in a parkin gene comprising SEQ ID NO:1, wherein the presence of one or more heterozygous genetic alterations in said parkin gene indicates that said subject has an autosomal recessive parkinsonian syndrome, wherein said genetic alteration in said parkin gene comprises: a) a heterozygous deletion of any one of the following single exons or exon combinations: exons 2 and 3; exon 2; exons 2, 3 and 4; exon 3; exon 5; exons 3-6; exon 6; exons 6-7; exon 8; exons 7, 8, and 9; or exons 3-9; b) a heterozygous duplication of any one of exons 3, 6, 7 or 11, c) a heterozygous point mutation resulting in any one of the following amino acid changes: Gln34Arg; Asn52Met; Lys161Asn; Lys211Asn; Arg256Cys; Arg275Trp; Asp280Asn; Cys268Stop; Cys289Gly; Arg348Glu; Gly328Glu; or Gly430Asp, wherein said amino acid is encoded by SEQ ID NO:1, d) a heterozygous triplication of exon 2, or e) a combination of a)-d) thereof.

2. The method according to claim 1, wherein said detecting a genetic alteration in said parkin gene comprises isolating nucleic acids from said sample.

3. The method according to claim 1, wherein said detecting a genetic alteration in said parkin gene comprises amplifying nucleic acids in said sample.

4. The method according to claim 3, wherein said amplifying step is carried out by means of a pair of primers comprising: a first primer complementary to a region of said parkin gene situated 5' of said genetic alteration; and a second primer complementary to a region of said parkin gene situated 3' of said genetic alteration.

5. The method according to claim 1, wherein said sample comprises blood, tissue, plasma or a cell culture from said subject.

6. The method according to claim 3, wherein said sample is pretreated so said parkin gene, or a portion thereof, is accessible for said amplifying step.

7. The method according to claim 1, wherein said detecting is carried out by sequencing, PCR/restriction, ASO, PAGE, or multiplex PCR.

8. The method according to claim 7, wherein said detecting demonstrates deletions of exons, duplications of exons, triplications of exons, or combination thereof.

9. The method of claim 1, wherein said autosomal recessive parkinsonian syndrome is early-onset parkinsonian syndrome, tardive parkinsonian syndrome or atypical parkinsonian syndrome.

10. A method for detecting an autosomal recessive parkinsonian syndrome in a subject comprising analyzing a nucleic acid sample obtained from said subject for the presence of one or more heterozygous genetic alterations in a parkin gene comprising SEQ ID NO:1, wherein said one or more heterozygous genetic alterations in said parkin gene comprises: a) a heterozygous deletion of any one of the following single exons or exon combinations: exons 2 and 3; exon 2; exons 2, 3 and 4; exon 3; exon 5; exons 3-6; exon 6; exons 6-7; exon 8; exons 7, 8, and 9; or exons 3-9; b) a heterozygous duplication of any one of exons 3, 6, 7 or 11, c) a heterozygous point mutation resulting in any one of the following amino acid changes: Gln34Arg; Asn52Met; Lys161Asn; Lys211Asn; Arg256Cys; Arg275Trp; Asp280Asn; Cys268Stop; Cys289Gly; Arg348Glu; Gly328Glu; or Gly430Asp, wherein said amino acid is encoded by SEQ ID NO:1, d) a heterozygous triplication of exon 2, or e) a combination of a)-d) thereof, wherein the presence of one or more heterozygous genetic alterations in said parkin gene indicates that said subject has an autosomal recessive parkinsonian syndrome.

11. The method according to claim 10, wherein said detecting a genetic alteration in said parkin gene comprises isolating nucleic acids from said sample.

12. The method according to claim 10, wherein said detecting a genetic alteration in said parkin gene comprises amplifying nucleic acids in said sample.

13. The method according to claim 12, wherein said amplifying step is carried out by means of a pair of primers comprising: a first primer complementary to a region of said parkin gene situated 5' of said genetic alteration; and a second primer complementary to a region of said parkin gene situated 3' of said genetic alteration.

14. The method according to claim 10, wherein said sample comprises blood, tissue, plasma or a cell culture from said subject.

15. The method according to claim 12, wherein said sample is pretreated so said parkin gene, or a portion thereof, is accessible for said amplifying step.

16. The method according to claim 10, wherein said detecting is carried out by sequencing, PCR/restriction, ASO, PAGE, or multiplex PCR.

17. The method of claim 10, wherein said autosomal recessive parkinsonian syndrome is early-onset parkinsonian syndrome, tardive parkinsonian syndrome or atypical parkinsonian syndrome.

18. A method for detecting an autosomal recessive parkinsonian syndrome in a subject comprising analyzing a nucleic acid sample obtained from said subject for the presence of one or more genetic alterations in a parkin gene comprising SEQ ID NO:1, wherein said one or more genetic alterations in the parkin gene comprises genetic alteration in the heterozygous state, or a genetic alteration in the homozygous state, and wherein the genetic alteration in said parkin gene comprises: a) a deletion of exon 4 or exons 3-4; b) a duplication of exon 3, c) a point mutation resulting in any one of the following amino acid changes: Gln34Arg; or Asn52Met; wherein said amino acid is encoded by SEQ ID NO: 1, d) a triplication of exon 2, or e) a combination of a)-e) thereof, wherein the presence of either one or more heterozygous or homozygous genetic alterations in said parkin gene indicates said subject has an autosomal recessive parkinsonian syndrome.

19. The method according to claim 18, wherein said detecting a genetic alteration in said parkin gene comprises isolating nucleic acids from said sample.

20. The method according to claim 18, wherein said detecting of a genetic alteration in said parkin gene comprises amplifying nucleic acids in said sample.

21. The method according to claim 20, wherein said amplifying step is carried out by means of a pair of primers comprising: a first primer complementary to a region of said parkin gene situated 5' of said genetic alteration; and a second primer complementary to a region of said parkin gene situated 3' of said genetic alteration.

22. The method according to claim 18, wherein said sample comprises blood, tissue, plasma or a cell culture from said subject.

23. The method according to claim 20, wherein said sample is pretreated so said parkin gene, or a portion thereof, is accessible for said amplifying step.

24. The method according to claim 18, wherein said detecting is carried out by sequencing, PCR/restriction, ASO, PAGE, or multiplex PCR.

25. The method of claim 18, wherein said autosomal recessive parkinsonian syndrome is early-onset parkinsonian syndrome, tardive parkinsonian syndrome or atypical parkinsonian syndrome.

26. A method for detecting an autosomal recessive parkinsonian syndrome in a subject comprising analyzing a nucleic acid sample obtained from said subject for the presence of one or more homozygous genetic alterations in said parkin gene comprising SEQ ID NO:1, wherein said detecting a homozygous genetic alteration in said parkin gene comprises: a) a deletion of exons 5 and 6, b) a point mutation resulting in any one of the following amino acid changes: Trp74Cys; Arg334Cys; Thr415Asn; or Trp453Stop, wherein said amino acid is encoded by SEQ ID NO:1, c) a homozygous triplication of exon 2, d) an insertion of GT between nucleotides 321 and 322, e) a deletion of TCTGC in intron 8, or f) a combination of a)-e) thereof, wherein the presence of one or more homozygous genetic alterations in said parkin gene indicates said subject has an autosomal recessive parkinsonian syndrome.

27. The method according to claim 26, wherein said detecting a genetic alteration in said parkin gene comprises isolating nucleic acids from said sample.

28. The method according to claim 26, wherein said detecting a genetic alteration in said parkin gene comprises amplifying nucleic acids in said sample.

29. The method according to claim 28, wherein said amplifying step is carried out by means of a pair of primers comprising: a first primer complementary to a region of said parkin gene situated 5' of said genetic alteration; and a second primer complementary to a region of said parkin gene situated 3' of said genetic alteration.

30. The method according to claim 26, wherein said sample comprises blood, tissue, plasma or a cell culture from said subject.

31. The method according to claim 28, wherein said sample is pretreated so said parkin gene, or a portion thereof, is accessible for said amplifying step.

32. The method according to claim 26, wherein said detecting is carried out by sequencing, PCR/restriction, ASO, PAGE, or multiplex PCR.

33. The method of claim 26, wherein said autosomal recessive parkinsonian syndrome is early-onset parkinsonian syndrome, tardive parkinsonian syndrome or atypical parkinsonian syndrome.

Summary for Patent:   Start Trial

Foriegn Application Priority Data
Foreign Country Foreign Patent Number Foreign Patent Date
France98 14524Nov 19, 1998
France99 10140Aug 4, 1999
PCT Information
PCT FiledNovember 18, 1999PCT Application Number:PCT/FR99/02833
PCT Publication Date:June 02, 2000PCT Publication Number:WO00/31253

Details for Patent 7,998,667

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 001 1986-06-04   Start Trial Aventis Pharma S.A. (Antony, FR) Institut National Sante et Recherche Medicale (Paris, FR) 2018-11-19 RX search
Schering INTRON A interferon alfa-2b VIAL 103132 002 1986-06-04   Start Trial Aventis Pharma S.A. (Antony, FR) Institut National Sante et Recherche Medicale (Paris, FR) 2018-11-19 RX search
Schering INTRON A interferon alfa-2b VIAL 103132 003 1986-06-04   Start Trial Aventis Pharma S.A. (Antony, FR) Institut National Sante et Recherche Medicale (Paris, FR) 2018-11-19 RX search
>Applicant >Tradename >Biologic Ingredient >Dosage Form >BLA >Number >Approval Date >Patent No. >Assignee >Estimated Patent Expiration >Status >Orphan >Source

Make Better Decisions: Try a trial or see plans & pricing

Serving leading biopharmaceutical companies globally:

Baxter
Harvard Business School
Express Scripts
AstraZeneca
McKesson
Merck

Drugs may be covered by multiple patents or regulatory protections. All trademarks and applicant names are the property of their respective owners or licensors. Although great care is taken in the proper and correct provision of this service, thinkBiotech LLC does not accept any responsibility for possible consequences of errors or omissions in the provided data. The data presented herein is for information purposes only. There is no warranty that the data contained herein is error free. thinkBiotech performs no independent verification of facts as provided by public sources nor are attempts made to provide legal or investing advice. Any reliance on data provided herein is done solely at the discretion of the user. Users of this service are advised to seek professional advice and independent confirmation before considering acting on any of the provided information. thinkBiotech LLC reserves the right to amend, extend or withdraw any part or all of the offered service without notice.