Page 87 - CIBERER2016-ENG

Most relevant scientific articles
• Marques A.R.A., Gabriel T.L., Aten J., Van Roomen C.P.A.A., Ottenhoff R., Claessen N. et al. Gpnmb is a potential marker for the visceral pathology in Niemann-Pick type C disease. PLoS ONE. 2016;11(1).
• Paiva B., Mateos M.V., Sanchez-Abarca L.I., Puig N., Vidriales M.-B., Lopez-Corral L. et al. Immune status of high-risk smoldering multiple myeloma patients and its therapeutic modulation under lendex: A longitudinal analysis. Blood. 2016;127(9):1151-1162.
• Padron E., Dezern A., Andrade-Campos M., Vaddi K., Scherle P., Zhang Q. et al. A multi-institution phase i trial of ruxolitinib in patients with chronic myelomonocytic leukemia (CMML). Clinical Cancer Research. 2016;22(15):3746-3754.
• Al-Ali H.K., Griesshammer M., le Coutre P., Waller C.F., Liberati A.M., Schafhausen P. et al. Safety and efficacy of ruxolitinib in an open-label, multicenter, single-arm phase 3b expanded-access study in patients with myelofibrosis: A snapshot of 1144 patients in the JUMP trial. Haematologica. 2016;101(9):1065-1073.
• Belmatoug N., Di Rocco M., Fraga C., Giraldo P., Hughes D., Lukina E. et al. Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe. European Journal of Internal Medicine. 2016.
Hightlights
PROJECTS:
“Evaluation of the function of KCa3.1 channels in the inflammatory complex induced by Gaucher cells. Possibility of therapeutic action”. PS 15/00616. It is carried out in collaboration with the researcher Ralf Köhler. “Project screening of the lipase deficiency of Lipase Acids in Spain”, 15 new families have been identified and the work has been awarded at the Congress of Innate Errors of Metabolism (SSIEM) held in Rome 6-9 September 2016. “Gen-Epigen” project being carried out to deepen the genetic variability of NPC disease, exome study was performed in 21 patients with a single identified variant.
CONGRESSES:
We have been the organizers of the 12th Congress of the European Gaucher Disease Group (EWGGD) held in Zaragoza from 29 June to 2 July 2016. International Congress with the assistance of 278 researchers, health professionals and patients from the European Gaucher Alliance, from 42 countries and in which more than 80 works were presented. The congress was inaugurated by the Health Councilor of Aragon Sebastian Celaya, the President of the EWGGD Stephan Vom Dahl and Dra Giraldo as researcher of CIBERER. Several CIBERER researchers from different groups participated. On July 2nd, 1st GAUCHER DISEASE POST-EWGGD MEETING: “BREAKING FRONTIERS” in which Spanish and Latin American experts participated and the book “The neurological affection of Gaucher disease” was presented in collaboration with researchers Mexicans (ISBN: 9788416585236) and created the Ibero-American Working Group on Gaucher Disease. IBER @ GAUCHER.
CLINICAL TRIALS:
Participated as IP in the Gaucher E trials evaluating Eliglustat: ENCORE. (EudraCT Number: 2008-005223- 28), Fabry E: phase II / III evaluating Pegunigalsidase alfa PRX-102 (EudraCT Number: 2016-001318-11, NPC E: evaluating Arimoclomol (EudraCT Number: 2015-004438-93 ), Myelofibrosis evaluating Momelotinib (EudraCT Number: 2013-005007-13) Chronic myeloid leukemia evaluating Bosutinib (EudraCT Number: 2013-004323-37).
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research groups 87