Page 29 - CIBERER2016-ENG

Knowledge Application Programme
Translation
Quite unquestionably one of the CIBERER’S achievements in translation in 2016 was the work done in promoting orphan drugs.
In 2016 CIBERER obtained as sponsor the designation of 4 orphan drugs by the European Medicines Agency (EMA) and 3 by the American agency (FDA). This means a total number of 6 orphan drugs by the EMA, 3 of which are also classified as such by the FDA.
Three of these drugs are for gene therapy and the other three involve repurposing, i.e. drugs which are used for other pathologies which are being appraised for use in some rare disease.
The 6 orphan drugs promoted by the CIBERER are:
• Lentiviral vector containing the gene of Fanconi A anaemia (FANCA) for treatment of this disease. This is led by Juan A. Bueren U710 (designated by the EMA and the FDA).
• Lentiviral vector containing the liver and erythroid pyruvate kinase gene (PKLR) for treatment of pyruvate kinase deficiency. Led by José Carlos Segovia U710 (designated by the EMA and the FDA).
• Haematopoietic stem cells modified with a lentiviral vector containing the CD18 (ITGB2) gene for treating leukocyte adhesion deficiency type 1. Led by Juan A. Bueren U710 (EMA and FDA).
• Temsirolimus for adrenoleukodystrophy. Led by Aurora Pujol U759 and Erwin Knecht U721 (designated by the EMA).
• Ubiquinol for the primary coenzyme Q10 deficiency. Led by Plácido Navas U720 and Rafael Artuch U703 (designated by the EMA).
• Metformin for Lafora disease. Led by Pascual Sanz U742 and José Serratosa U733 (designated by the EMA).
A Protocol Assistance has also been requested for the Lentiviral vector containing liver and erythroid pyruvate kinase gene (PKLR) for treatment of pyruvate kinase deficiency by José Carlos Segovia U710.
After completing the designation process, a lengthy process of seeking financing sources and undertaking clinical trials begins, until marketing authorisation is obtained by regulatory agencies. It is vital to support researchers during this process in order to valorise their projects.
Transfer
3 patents were applied for in 2016, 2 of these European and 1 American:
• Mass spectrometry-based methods for the detection of circulating histones H3 and H2b in plasma from sepsis or Septic Shock (SS) patients by Federico Pallardó’s group U733 (EP 16 382 509).
• New therapeutic uses of TUDCA for adrenoleukodystrophy, carried out by Aurora Pujol’s group - U759 (EP16382602).
• “Gene therapy for patients with Fanconi anemia” carried out by Juan Antonio Bueren’s group - U710 (EP15382545 5).
2 licence agreements for CIBER technology were signed in 2016. The first in gene therapy with lentivirus for pyruvate kinase deficiency and Fanconi anaemia and the second in leukocyte adhesion deficiency type-1 syndrome.
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Transversal Programmes 29