New orphan drug authorized for Hereditary Hemorrhagic Telangiectasia

The group led by Dr. Luisa Botella in the Center for Biological Research has obtained the third designation of orphan drug by the European Medicines Agency for the treatment of Hereditary Hemorrhagic Telangiectasia (HHT), a rare genetic disease with a prevalence estimated world average of 1 per 5,000-inhabitants.

Following the line of therapeutic repositioning (characterization of a second use of drugs already known for other diseases), the group of Dr. Luisa Botella has achieved the designation as an orphan drug of ethamsylate, the ethylenediamine salt of dobesilate (commercially known as Doxium), which was used for "vasculotropic" purposes since the mid-twentieth century. The designation is the result of a translational investigation between the group of the Center for Biological Research (CIB-CSIC), belonging to the U-707 CIBERER, Dr. José Luis Patier of the Ramón y Cajal Hospital, and the HHT Spain patients' association.

HHT is characterized by frequent and recurrent nosebleeds that increase with age, red or purple spots on the hands, face and mucous membranes and involvement of internal organs, with arteriovenous malformations in the lung, brain, liver or spinal cord. spinal. Although it is not fatal, its symptoms significantly reduce the quality of life of those affected since, due to the profusion of hemorrhages, anemia and the need for blood transfusions are frequent, especially after 40 years.

The research group led by Dr. Botella and constituted by Dr. Virginia Albiñana, Dr. Angel Cuesta and Lucia Recio, got the first orphan drug designation for the HHT in 2010 with the Raloxifene and in 2014 the second one arrived, for Bazedoxifene. It is worth noting that the topical use of ethamsylate as a new orphan drug for the control of HHT bleedings is a new route of application of the product, since the drug has been prepared to be used in the form of a nasal spray.

The idea of using etamsylate to reduce bleeding in HHT came from Prof. Dr. Guillermo Giménez Gallego, also a researcher at CIB-CSIC, who published in 1998 the mode of action of this molecule as an inhibitor of the FGF pathway (Fibroblast Growth Factor).

This is the fourth designation of orphan drug obtained by this research group of the Biological Research Center, which also achieved in January 2017 the designation of an orphan, for the rare disease of von Hippel Lindau, in collaboration with the patient alliance.

More information (in spanish):
CSIC Press Release: link
Noticias Web Madri+D: link