im MÉDICO | 59.2 10 8. Orphan designation: clofazimine for: Treatment of nontuberculous mycobacterial lung disease Date of designation: 21/08/2019, Positive, Last updated: 13/02/2023 9. Orphan designation: Fenfluramine hydrochloride for: Treatment of Lennox-Gastaut syndrome Date of designation: 27/02/2017, Positive, Last updated: 07/02/2023 10. Orphan designation: Berzosertib for: Treatment of small cell lung cancer Date of designation: 18/07/2022, Withdrawn, Last updated: 07/02/2023 11. Orphan designation: Rebastinib for: Treatment of ovarian cancer Date of designation: 12/11/2021, Positive, Last updated: 07/02/2023 12. Orphan designation: Dodecyl creatine ester, dodecyl creatine ester hydrochloride for: Treatment of creatine deficiency syndromes Date of designation: 19/02/2021, Positive, Last updated: 06/02/2023 13. Orphan designation: polyethylene glycol-modified human recombinant truncated cystathionine betasynthase (pegtibatinase) for: Treatment of homocystinuria Date of designation: 30/05/2016, Positive, Last updated: 06/02/2023 14. Orphan designation: Volanesorsen sodium for: Treatment of familial partial lipodystrophy Date of designation: 14/07/2016, Positive, Last updated: 02/02/2023 15. Orphan designation: Phosphorothioate oligonucleotide targeted to apolipoprotein C-III (volanesorsen) for: Treatment of familial chylomicronaemia syndrome Date of designation: 19/02/2014, Positive, Last updated: 02/02/2023 1. Orphan designation: 2-hydroxy-N,N,N-trimethylethan-1-aminium (Z)-4-(5-((3-benzyl-4-oxo2-thioxothiazolidin-5-ylidene)methyl)furan-2-yl) benzoate for: Treatment of pancreatic cancer Date of designation: 24/03/2020, Withdrawn, Last updated: 16/02/2023 2. Orphan designation: Omigapil maleate for: Treatment of congenital muscular dystrophy with merosin (laminin alpha 2) deficiency Date of designation: 08/05/2008, Positive, Last updated: 15/02/2023 3. Orphan designation: proteolytic enzymes enriched in bromelain for: Treatment of partial deep dermal and full-thickness burns Date of designation: 30/07/2002, Expired, Last updated: 15/02/2023 4. Orphan designation: Treprostinil sodium for: Treatment of pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension Date of designation: 14/04/2004, Positive, Last updated: 13/02/2023 5. Orphan designation: Treprostinil diethanolamine for: Treatment of systemic sclerosis Date of designation: 15/05/2009, Positive, Last updated: 13/02/2023 6. Orphan designation: Treprostinil sodium for: Treatment of idiopathic pulmonary fibrosis Date of designation: 16/03/2022, Positive, Last updated: 13/02/2023 7. Orphan designation: Ralinepag for: Treatment of pulmonary arterial hypertension Date of designation: 11/01/2019, Positive, Last updated: 13/02/2023 En lo que va de 2023… Designaciones huérfanas aprobadas biobancos, plataformas de análisis, archivos de datos genómicos y datos de modelos animales de investigación, tales como ratones o líneas celulares. En adelante, la actividad de EJP RD podrá justificar el destino de fondos a una alianza europea para las EERR. Mientras que Solve-RD se centra en la identificación genética y el diagnóstico, el proyecto EJP-RD es una infraestructura bioinformática de alcance europeo para la interconexión de plataformas orientación digital remota. Como antecedentes pueden citarse el proyecto europeo RDConnect y la plataforma RD-Connect GPAP desarrollada por el propio CNAG-CRG. Con la forma de colección de datos ómicos y genómicos de familiares y pacientes con enfermedades raras según los estándares establecidos por ORDO, Human Phenotype Ontology y Orphanet Rare Disease Ontology. Al clasificar datos fenotípicos, clínicos y genómicos disponibles para su análisis e interpretación, de cara a lograr diagnósticos más tempranos. Al presente, RD-Connect recibe fondos de la plataforma de bioinformática para Europa, Elixir. Mientras que RD-Connect GPAP ofrece
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