Rocío Sánchez-Carpintero, a neuropediatrician at the Clínica Universidad de Navarra, highlighted that the most relevant and valued aspect in an ideal therapeutic strategy would be one that was aimed at treating the cause of the disease and not just the symptoms, as up to now. According to her, there are beginning to be “glimpses of therapeutic strategies aimed at changing some of the genetic mechanisms that are involved in the disorders of this disease.” In addition, this expert stressed that the use of new, more effective drugs would “undoubtedly” contribute to reducing the pharmacological burden.
Within this context, Ángel Aledo-Serrano, an epileptologist in the Epilepsy Unit of the Ruber Internacional Hospital, put on the table the importance of reviewing the definition of therapeutic success in this pathology and emphasized the need for an approach beyond control of crises. “For a long time, neurologists only had medications for seizures, and because of that, they only focused on them. This epileptocentric vision must be changed ”, he assured. Likewise, he added that there are drugs that can change the evolution and natural history studies are being carried out to see how the disease evolves in all its aspects and dimensions, beyond epilepsy and advocated the early use of effective drugs since “probably impact on the future” of the disease. For this reason, Aledo-Serrano indicated that it was necessary to seek a consent between professionals and families of DS patients about what will be a therapeutic success, both in the security, as in comorbidities. In this regard, it must be taken into account that cognitive disorders, in some patients, become more important than the crises, highlighted this expert.
Continuing with aspects related to medications, Vicente Villanueva, coordinator of the Multidisciplinary Epilepsy Unit of the La Fe University and Polytechnic Hospital in Valencia, explained that the relatives of patients with DS “are very well informed” and when they come to the consultation they are knowledgeable of the approval of new drugs and demand their prescription. Faced with this situation, health professionals are immersed in bureaucratic procedures to acquire foreign medicines so that patients can undergo these treatments. As he said, “it is necessary to try to find a solution” to this administrative journey that is experienced with certain drugs, for which it is not known when the price-reimbursement decision will arrive for some drugs approved in Europe.
Support for these statements was seconded by Elena Casaus, head of the division of the Advanced Therapies Unit of the Community of Madrid, who, in her speech, put on the table that the current situation regarding access to orphan drugs in Spain “does not it is optimal”. This person in charge of the Community of Madrid explained that the evaluation at European level by the European Medicines Agency (EMA) advocates for a system in which medicines in which there is a high unmet need are prioritized. For this reason, deadlines tend to be accelerated, however, at the national level there are considerable delays, which go beyond what is established in the Common Administrative Procedure Law, which establishes a processing period of 180 days. For this reason, Casaus stressed the need to establish mechanisms, such as regulation through Regulations, in order to emphasize the prioritization of these orphan drugs since, from his point of view, it is a contradiction that “at the level evaluations are accelerated at the European level and at the national level they are delayed due to a lack of methodological determination”.
View of patients and socioeconomic burden
The importance of knowing and highlighting how the disease impacts patients and their families was addressed by the president of the Dravet Syndrome Foundation, José Ángel Aibar, who stressed that “we usually focus on the patient and their medication, but for Unfortunately, this pathology goes beyond epilepsy, it entails a series of serious neurodevelopmental symptoms and affects the whole family”. In Aibar’s words, it is a family syndrome and impacts all aspects of the patient’s life and all members of the family unit.
On the other hand, this relative pointed out the need for patients to be sufficiently represented throughout the process of access to innovation. In this regard, he stressed that one of the big problems “are the 17 Taifa kingdoms that Spain has.” For this reason, he pointed out that it is necessary to make the single health card effective, in addition to legislating the participation of patient associations and foundations in advisory bodies and in decision-making, review the portfolio of services of the National Health System, without forgetting that it is necessary that all decisions of the Interterritorial Council of the National Health System (CISNS) must be guarantors to avoid inequities that occur in access to innovation.
The director of Apoyo Dravet and Scientific Director of the European Dravet Syndrome Federation, Luis Miguel Aras, pointed out the impact of DS on the daily lives of patients and their families. For Aras, the dependency of those affected by this disease is very high since they need total or partial supervision for most daily activities. In addition, he highlighted that this pathology does not have the same coverage, both publicly and privately, as well as social support, as other pathologies with a similar burden.
On the other hand, he referred to the approximate cost for families in Spain, which is around 400 euros per month, without forgetting that family members sometimes have a reduced income because they “seek time” to care for patients. This means, stressed Aras, that families sometimes “cannot afford the expense of a speech therapist or behavioral therapy.” On the other hand, other families can afford these expenses, which, in the words of Aras, “is discrimination.”
For his part, Casaus assured that the economic impact of SD for families is very high as well as for the SNS. According to him, the existing problem in Spain is that it has a legal framework that regulates the public financing of medicines, Law of Guarantees and Rational Use of Medicines, which establishes in its article 92 the criteria when making the decision whether or not a medicine is included in the financing. Within these quantitative criteria there are only two, on the one hand, the budgetary impact and on the other the cost-effectiveness, but in no case is the issue addressed nor are the direct costs for the NHS that are not pharmacological or indirect costs such as lost productivity. Therefore, as he explained, Spain does not have a development of Title VIII of the Guarantees Law that contemplates a methodology that includes and values this type of cost in diseases such as DS that have a high cost.
Need for guidelines and protocols
The need to establish clinical practice guidelines “that take into account the disease as a whole” was raised by Sánchez-Carpintero. In this regard, it was recalled that DS is a genetic defect that has many manifestations, including epilepsy, but also decreased cognitive ability, motor control disorders, and behavioral problems. For this specialist, the guidelines will facilitate the knowledge of the disease by all the indicated professionals, help the diagnosis and prevent situations in which patients are treated with drugs that make it worse and that could even generate greater disability in the long run. term.
Casaus also highlighted how essential it is to have these guides and routes of clinical protocols to address the rare diseases. In the words of this expert, “it will help minimize the risk of producing inequities in access to treatment.” In this context, she explained that in the Community of Madrid Advanced Therapies have been implemented and it is being a “very positive experience, since it has care routes and designated centers.” According to her, she said, “the referral of patients is expedited and the possibility of assistance to patients from any autonomous community is established.” All this, to guarantee an equitable access to the treatments, assured Casaus. In this way, she pointed out that it would be a model that could be implemented for rare diseases, a disruptive and innovative model,
Finally, the attendees discussed the use of the multi-criteria analysis (MCDA) methodology, betting unanimously on its suitability, given the holistic and multidisciplinary approach that is carried out in the evaluations carried out with this methodology.
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