Revisando documentos de 2018 me he encontrado la carta que envié para proponer a la Dra. Luisa Mª Botella como candidata a la convocatoria de Black Pearl Awards 2019. No fue seleccionada.
Quiero hacer pública esta carta porque me parece que reune suficientes méritos como para recibir este reconocimiento. A ellos hay que añadir que representa a los pacientes en las redes europeas de referencia, tiene otra designación de medicamento huérfano, y desde diciembre de 2018 ya tiene una nueva patente para un fármaco dirigido a un tumor maligno contra el que no hay nada realmente efectivo. Podéis leer más sobre su trayectoria en la web de HHT. En breve, habrá que añadir otra nueva publicación relacionada con VHL. La candidatura está en inglés, porque era el idioma en el que se exigía presentarla. Gracias, Luisa, por todo tu esfuerzo y trabajo por los afectados por enfermedades raras.
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| Dra. Luisa Mª Botella. Fotografía de la página de HHT |
Dr Luisa María Botella works investigating two rare diseases for several years: von Hippel-Lindau disease since 2012, and hereditary hemorrhagic telangiectasia (HHT) for more than 10 years. Her fundamental contributions to the investigation of these diseases are:
- The search for an effective treatment for VHL disease, able to slow down its evolution (slowing down the growth of the characteristic tumours).
- Regarding the evolution of VHL disease, Dr Luisa María Botella has described two possible biomarkers of the VHL disease activity: VEGF and miRNA 210. If they are confirmed as biomarkers for VHL, they will serve to assess the effect of those drugs tested in clinical trials.
- Participation (2017) as a principal investigator in the clinical trial for HHT disease A phase IV-II, single-center, open, single arm treatment, low level of intervention, to assess the efficacy clinical trial and safety of intranasal administration of ethamsylate in the treatment of hereditary hemorrhagic telangiectasia, during 4 weeks, EudraCT Number 2016-003982-24, as an independent researcher.
- She performs genetic diagnosis in HHT and VHL diseases, as a part of her daily work.
granted by the European Medicines Agency (EMA). Designations of orphan drugs by the EMA:
a. Designation of Raloxifene-Hydrochloride as an orphan drug for the disease of HHT or hereditary hemorrhagic telangiectasia. Public summary of opinion on orphan designation Raloxifene hydrochloride for the treatment of hereditary haemorrhagic telangiectasia
b. Designation by the EMA of Bazedoxifene acetate as an orphan drug for HHT. Public summary of opinion on orphan designation Bazedoxifene acetate for the treatment of hereditary haemorrhagic telangiectasia
c. Designation by the EMA of propranolol hydrochloride as an orphan drug for VHL. EU orphan designation number: EU / 3/17/1841. Public summary of opinion on orphan designation Propranolol hydrochloride for the treatment of von Hippel-Lindau disease
The last orphan drug designation was for propranolol (January 2017) to treat VHL disease, being this the first medication worldwide for this serious hereditary cancer disease. This designation was based on the results of a clinical trial carried out between December 2014 and may 2016, and whose positive results were published in the Orphanet Journal of Rare Diseases (Albiñana V, Escribano RMJ, Soler I, Padial LR, Recio-Poveda L, Villar Gómez de Las Heras K, Botella LM. Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease. Orphanet J Rare Dis. 2017 Jun 29;12(1):122. doi: 10.1186/s13023-017- 0664-7. PubMed PMID: 28662711. Q1). All the information related to this CT is available in the Spanish Registry of Clinical Studies REEc: Effect of propranolol in retinal tumours of patients with Hippel-Lindau disease, EudraCT no. 2014-003671-30, as well as in the Registry European Clinical Trials: https://www.clinicaltrialsregister.eu/ctr-search/trial/2014-003671-30/ES.
Currently, Dr Botella is testing in vitro a new beta-blocker for which patent protection was requested in August 2017, after some in vitro studies showing an improvement over the results obtained with propranolol. She is also testing the combination of beta-blockers with other drugs, as a possible combination therapy with a synergistic effect.
Patents
August 2017. Requested for a beta-blocker assayed in vitro in the laboratory, on tumour cultures of VHL patients. The VHL Alliance is co-owner of the patent, with the CSIC.
November 2008. "Method of detection of hereditary hemorrhagic telangiectasia", CSIC and the Center for Biomedical Research in the Network of Rare Diseases (CIBERER), presented to the Spanish Patent and Trademark Office on November 6, 2008. Application number 200803174.
April 2007. Method for the molecular diagnosis of hereditary hemorrhagic telangiectasia, 200703296
Dr Luisa María Botella is a person really involved with patients suffering rare diseases, and collaborates in the investigation of other rare diseases (such as Wolfram Syndrome), gives talks in schools on ER, and performs advice of altruistic character for those who require her.
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Main publications on VHL and HHT:
Albiñana V, Escribano RMJ, Soler I, Padial LR, Recio-Poveda L, Villar Gómez de Las Heras K, Botella LM. Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease. Orphanet J Rare Dis. 2017 Jun 29;12(1):122. doi: 10.1186/s13023-017- 0664-7. PubMed PMID: 28662711. Q1
Albiñana V et al. Propranolol reduces viability and induces apoptosis in hemangioblastoma cells from von Hippel-Lindau patients. Orphanet J Rare Dis. 2015 Sep 22;10:118. doi: 10.1186/s13023-015- 0343-5.
Albiñana V et al. Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1. BMC Med Genet. 2017 Feb 23;18(1):20. doi: 10.1186/s12881-017- 0380-0.
Zarrabeitia R et al. Quality of life in patients with hereditary haemorrhagic telangiectasia (HHT). Health QualLife Outcomes. 2017 Jan 23;15(1):19. doi: 10.1186/s12955-017- 0586-z.
Ojeda-Fernández et al. Mice Lacking Endoglin in Macrophages Show an Impaired Immune Response. PLoS Genet. 2016 Mar 24;12(3):e1005935.
Gallardo-Vara E, et al. Transcription factor KLF6 upregulates expression of metalloprotease MMP14 and subsequent release of soluble endoglin during vascular injury. Angiogenesis. 2016 Apr;19(2):155-71. doi: 10.1007/s10456-016- 9495-8.
Zarrabeitia R, et al. Bazedoxifene, a new orphan drug for the treatment of bleeding in hereditary haemorrhagic telangiectasia. Thromb Haemost. 2016 Jun 2;115(6):1167-77. doi: 10.1160/TH15-03- 0239.
Rossi E, et al. Endoglin regulates mural cell adhesion in the circulatory system. Cell Mol Life Sci. 2016 Apr;73(8):1715-39. doi: 10.1007/s00018-015- 2099-4.
