“I’ve told you my past and now, I hope Dr. Blanca García Sandoval tells you about my future.”
Thus culminated his testimony at the II International Congress Retina Murcia; Enrique, a patient with an advanced Pigmentary Retinosis, linked to the X chromosome in the RPGR gene. It is the same gene of the clinical trial that heads, as principal investigator the doctor to whom the still young rocker and with which he shared table in this annual event, which has been held in Murcia for six years. The doctor took the witness and began to tell Enrique and all the attendees a present that is already a reality and a future with the doors of hope open wide.
The project led by Dr. García Sandoval at the Jiménez Díaz Foundation hospital operated at the end of May with gene therapy to the first patient with Pigmentaria Retinosis caused by the same gene that causes Enrique’s disease. A little more than four months later, there are already a total of six affected by this gene who have successfully passed through the operating rooms of the Madrid hospital.
In addition, there is a seventh patient for whom the same operation will be scheduled for the next few weeks. In this way, the health center makes Spain a national and international reference in research aimed at the search for treatments against these rare ocular pathologies that limit vision and even lead to blindness. And is that our country is the second one that has practiced the most interventions in the world framed in this clinical trial, only behind the United States.
Regarding the results of the interventions on the vision of the patients intervened, the doctor clarified that it is early to venture to give them, but she expresses hope that they can be positive. This milestone reached by the Jiménez Díaz Foundation is the result of long years of work in close collaboration of the Ophthalmology and Genetics services of the health complex of the capital, commanded by Dr. Ignacio Jiménez-Alfaro and Dr. Carmen Ayuso, respectively. Thanks to specialists and researchers like them, Spain champions this fight against blindness. And thanks to appointments like the Retina Murcia Congress, patients and the colleagues of these professionals can not only know them directly, but also discuss them from you to you with those responsible for these advances.
The event developed in Murcia addressed in several tables the state of the research regarding possible future therapies, both gene, cellular or pharmacological for retinal dystrophies. In fact, on this was the table that closed the congress, with up to six doctors participating in trials looking for treatments for these rare eye pathologies. The table was moderated by Dr. Regina Rodrigo, from the Prince Felipe Research Center of Valencia. The table was opened by Dr. José María Millán, of the Instituto de Investigación Sanitaria La Fe de Valencia, who revealed that, at present, there are more than 42 clinical trials of gene therapies for retinal dystrophies in progress.
ARTIFICIAL INTELLIGENCE IMPROVES DIAGNOSIS AND CARE
The emergence of new technologies and artificial intelligence in medicine was also highlighted in the congress as a tool that contributes to the improvement of the diagnosis and treatment of these diseases of vision. This was underlined by the president of the Spanish Association of Human Genetics, Encarna Guillén, who gave the opening speech, in which she stressed that there are applications for mobiles capable of detecting eye diseases early and, therefore, adopting the measures that are deemed appropriate to alleviate their effects.
In this same sense, Dr. Ignacio Lozano, of the Retina Unit of the Hospital of Santa Lucia of Cartagena, was expressed, who admitted that the treatments improve with the application of the new technologies. Lozano accompanied Dr. Sonia Díaz Calvo, from the Morales Meseguer hospital, at the table on Macular Degeneration Associated with Age (DMAE). Both recalled that it is the main cause of blindness in developed countries among those over 55 years old and commented on new treatments that have emerged to slow their progress in the type of geographical atrophy.
The Retina Murcia Congress also addressed psychological care to those affected and relatives of those affected by these pathologies, the importance of orphan drugs in the treatment of rare diseases, the adoption of measures to improve accessibility for people with visual disabilities in cities, shops and restaurants, the new tools that arise in optics and optometry for low vision and the approach of syndromic diseases that affect vision, such as Alström syndrome, were other issues that were discussed at the event.
The president of the Retina Murcia Association, David Sánchez, was satisfied with the development of the congress and with the fact that this event serves as a shuttle of good news such as that offered by the Jiménez Díaz Foundation. However, he called for medical and opticians to take more account of the opinion of patients who are experts in the therapeutic processes that develop.
One more year, the Retina Murcia Congress, sowed knowledge and great expectations for the hundreds, thousands and millions of Enriques who are waiting for the cure of their secguer and that are summarised in the sentence with which Dr. García Sandobal closed her intervention: The desired future approaches step by step with rigor, hope and effort.
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