im MÉDICO | 59.2 11 16. Orphan designation: Allogeneic Epstein-Barr virus specific cytotoxic T lymphocytes (Tabelecleucel) for: Treatment of post-transplantation lymphoproliferative disorders Date of designation: 21/03/2016, Positive, Last updated: 30/01/2023 17. Orphan designation: Ex-vivo-expanded autologous keratinocytes transduced with retroviral vector containing the COL7A1 gene (prademagene zamikeracel) for: Treatment of epidermolysis bullosa Date of designation: 27/02/2017, Positive, Last updated: 30/01/2023 18. Orphan designation: Bardoxolone methyl for: Treatment of autosomal dominant polycystic kidney disease Date of designation: 20/08/2021, Positive, Last updated: 30/01/2023 19. Orphan designation: Omaveloxolone for: Treatment of Friedreich’s ataxia Date of designation: 27/06/2018, Positive, Last updated: 30/01/2023 20. Orphan designation: Bardoxolone methyl for: Treatment of Alport syndrome Date of designation: 25/05/2018, Positive, Last updated: 30/01/2023 21. Orphan designation: Rilonacept for: Treatment of idiopathic pericarditis Date of designation: 06/01/2021, Positive, Last updated: 30/01/2023 22. Orphan designation: idursulfase for: Treatment of mucopolysaccharidosis type II (Hunter’s syndrome) Date of designation: 06/01/2021, Withdrawn, Last updated: 27/01/2023 23. Orphan designation: Loncastuximab tesirine for: Treatment of diffuse large B-cell lymphoma Date of designation: 20/08/2021, Withdrawn, Last updated: 26/01/2023 24. Orphan designation: propagermanium for: Treatment of focal segmental glomerulosclerosis Date of designation: 19/11/2018, Positive, Last updated: 25/01/2023 25. Orphan designation: Recombinant human mesencephalic astrocyte-derived neurotrophic factor for: Treatment of retinitis pigmentosa Date of designation: 24/04/2015, Positive, Last updated: 24/01/2023 26. Orphan designation: (S)-5-(1-(6-chloro-2-oxo-1,2dihydroquinolin-3-yl)ethylamino-1-methyl-6-oxo-1,6dihydropyridine-2-carbonitrile (olutasidenib) for: Treatment of acute myeloid leukaemia Date of designation: 29/05/2019, Positive, Last updated: 23/01/2023 27. Orphan designation: Ramiprilat for: Treatment of Stargardt’s disease Date of designation: 12/03/2013, Positive, Last updated: 17/01/2023 28. Orphan designation: Herpes simplex virus 1 expressing the human CFTR gene for: Treatment of cystic fibrosis Date of designation: 26/03/2021, Positive, Last updated: 17/01/2023 29. Orphan designation: Replication-incompetent, non-integrating, herpes simplex virus 1 vector expressing the human transglutaminase-1 enzyme (Inetagugene geperpavec) for: Treatment of autosomal recessive congenital ichthyosis Date of designation: 13/11/2019, Positive, Last updated: 13/01/2023 30. Orphan designation: zanubrutinib for: Treatment of marginal zone lymphoma Date of designation: 20/05/2021, Withdrawn, Last updated: 05/01/2023 una cifra superior a los 30.000 datos de pacientes y familiares y 1.500 perfiles genéticos en URD-Cat. Todo un conjunto de información anonimizada que ya incluye 2.000 diagnósticos en actividad compartida por la Comunidad Foral de Navarra y Cataluña. Finalmente, también existe el proyecto GenoMed4ALL que usa la inteligencia artificial a nivel federado en enfermedades de la sangre. Gracias a un flujo de información en nodos, que capta datos, los almacena y los provee cuando se requieren para nuevas investigaciones. Normalidad en el congreso de enfermedades raras En la recta final de 2022 también hubo ocasión de avanzar frente a estas patologías después de celebrado el Congreso Mundial de Medicamentos Huérfanos (World Orphan Drug Congress) en la localidad costera de Sitges (Barcelona). Momento en el que se habló de terapias celulares y génicas aplicadas a las EERR, junto a test genéticos, edición genética, alianzas e inversiones, acceso al mercado global con medicamentos huérfanos, los programas
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