Patents and Applications for Long QT Syndrome (LQTS) Genetic Testing.
| Syndrome** | Gene | US Patent/application No. | Assignee/Inventor |
|---|---|---|---|
| LQT1, JLN1 | KCNQ1 | US6150104&, | University of Utah Research Foundation |
| US6277978&, | |||
| US6342357, | |||
| US6451534, | |||
| US6582913, | |||
| US6972176# | |||
| LQT2 | KCNH2 | US5599673#, | University of Utah Research Foundation |
| US6207383# | |||
| US7297489# | |||
| LQT3 | SCN5A | US6787309, |
University of Utah Research Foundation |
| US5599673# | |||
| US2004126787A1 | Inventors: Michael J Ackerman et al. | ||
| LQT5, JLN2 | KCNE1 | US6323026, | University of Utah Research Foundation |
| US6432644# | |||
| US7247436# | |||
| LQT6 | KCNE2 | US6864364 | University of Utah Research Foundation |
| LQT7 | KCNJ2 | US7306911 | University of Utah Research Foundation |
| US2005175995A1 | Inventors: Louis Ptacek et al. (University of Utah) | ||
| LQT8 | CACNA1C | US2008118438A1* | Inventors: Charles Antzelevitch et al. |
| Syndromes | Genes included | Patent/Application No. | Inventors | Title |
|---|---|---|---|---|
| LQTS 1, 2, 3,5,6 | SCN5A,KCNQ1, KCNE1, KCNH2, | US7179597 | Raymond L Woosley (Georgetown Univ) | Genetic diagnosis for qt prolongation related adverse drug reactions |
| US2005142591A1 | Michael J Ackerman et al. (Mayo clinic) | Method of genetic testing in heritable arrhythmia syndrome patient | ||
| LQT1,2,3,5,6 | SCN5A, KCNQ1, KCNE1, KCNH2, KCNE2 | US7179597* | Raymond L Woosley (Georgetown Univ) | Genetic diagnosis for QT prolongation related adverse drug reactions |
| LQT2, LQT3, LQT1/JLN1 | KCNH2, SCN5A,KCNQ1 | US2005130190A1* | Charles Antzelevitch, Ramon Brugada et al. (Masonic Medical Research Lab) | Mutations in ion channel proteins associated with sudden cardiac death |
| LQT8 SCD | CACNA1C, CACNB2 | US2008118438A1* | Charles Antzelevitch & Guido Pollevick. (Masonic Medical Research Lab) | Loss of function mutations in calcium channel polypeptides associated with sudden cardiac death |
| LQT3, LQT1/JLN1 LQT8 | SCN5A,KCNQ1, CACNA1C | US2005287574A1 | Medtronic Inc | Genetic diagnostic method for SCD risk stratification |
Search query sample: “long QT” <in> Claims. Additional patents and applications identified by gene names (for e.g. KCNJ2 or Kir 2.1 for LQT 7) as search terms. All patents highlighted in gray are licensed to Bio-Reference Laboratories (BRLI, personal communication with Dr. Jorge Goldstein). Patents in bold were subject of 2002 patent infringement lawsuit brought by DNA Sciences against GeneDx (see Appendix 7).
JLN1 and JLN2 = Jervell Lange-Nielsen syndrome variants; gene-syndrome correlations based on Saenen and Vrints, J Mol Cell Cardiol, 2008. 44(4): p. 633-46.
Patent claims are on mutations associated JLN1 only.
Indicates patents that declare use of federal funds and government interest.
Indicates claims including use of microarrays for diagnostic detection.
BRLI has obtained licenses to US6274332 and US6420124 from the University of Utah Research Foundation. The patents claim methods for screening drugs that can be used to treat individuals with mutations in KCNE1 and KCNQ1 respectively. BRLI also has licensed US7208273 from the University of Utah, which covers the detection of SCN5A polymorphisms for diagnosing drug-induced ventricular fibrillation.
SCD – Sudden Cardiac Death
Indicates applications and patents including claims on the use of microarrays for diagnostic detection.