Encore Lab interviewed Dr. Luis Miguel Aras Portilla
Encore Lab interviewed Dr. Luis Miguel Aras Portilla, CEO of the foundation Apoyo Dravet:
- (Encore Lab) What is exactly the Dravet syndrome?
- (Dr. Aras) The Dravet syndrome is a neurological disease within the group of refractory epilepsies. It is an epileptic syndrome that it is not sufficiently addressed with the existing medicines and produces seizures, cognitive impairment, mental retardation and other quite severe problems, as behavioural disorders and, unfortunately has one of the highest SUDEP ratios among all the epilepsy syndromes. There are not many cases, that is why is considered a rare disease.
- When and how can this disease appear?
- Generally, the Dravet syndrome is not hereditary, it is produced due to mutations appearing in the formation of the sperm cell or vaginal ovule before fecundation; up to 90% of affected people are the first generation having this mutation in a determined gen and so, they will be the first having symptoms. Some of them, in certain conditions can inherit this mutation and, although they might not have the Dravet syndrome, they could have other disturbances as febrile convulsions or other types of disorders, however, the usual situation is the parents being healthy and the mutation taking place again in children. From here, if an affected person may have a child with Dravet syndrome it would be an autosomal dominant disease and they will inheritable.
- When is the cure for Dravet syndrome expected?
- In science, everything depends on three factors: time, luck and money; time can be bought with money and luck too. The genetic therapy and the new advanced therapies arising could be solutions or part of a solution, but everything depends on money, support, the attention we may attract to that disease.
- As it is considered a rare disease, how much support does it receive from the government and big pharmaceutical companies?
- Rare diseases are unknown for the society in a general basis, and even unknown to those treating the disease such as doctors or professors and obviously, they are far from the social impact needed to get an institutional grant. In the case of Dravet, despite being a rare disease, it is a bit more known due to two situations that took place while studying the disease and developing medicines: it was the first epileptic syndrome linked to a gen, so it was the proof that epileptic syndromes and epilepsy could be genetic and, in the second place, not long ago, the acknowledgement of a marihuana derivative that was effective over the Dravet syndrome, a fact that caused a mediatic impact, but it is still a very unknown disease. In fact, as I told you before, imagine how important this unawareness of this disease is, that probably more than 70% of the cases in Spain are not diagnosed yet.
- What could the public administration do to help you?
- I think the role of the patients, in general, has changed, it happened in the USA first and now we have the example also in Spain. Patients do not only provide data or take care of the affected people, they are able to promote social enterprises or to promote entities, research centres or even organisms to promote research and technology as Apoyo Dravet. This models are not parallel to the administration activity and normally go faster. We, as Apoyo Dravet, although we do promotion of the investigation and investments done in research, cannot be eligible for grants from the administration for companies or promotion entities as we are still considered a social organization for patients despite doing a professional work, having people hired, developing technological transfer strategies, sharing knowledge and investing and promoting start-ups to foster entrepreneurship. For all this grants, in a general basis, they do not consider Apoyo Dravet a company or entity. The best thing the administration could do would be to align with the new models of patients arising.
- Why was Apoyo Dravet created?
- Apoyo Dravet is an association created in a very specific hospital environment in San Sebastián, among a group of doctors, nurses and other health professionals who were close to the family of a patient, that is the reason why an intensive mode was created to focus on supporting scientific and technologic projects that allow a modification of the disease in the shortest possible period and, on the other side, to promote those projects that may improve the life quality of the patients until a cure is developed.
- What kind of personnel does the association have?
- We have two kinds of collaboration models: volunteers that spend their time in events and certain promotion activities and volunteers with professional abilities who do for the association the same they do in their job: people working on marketing, media, research or doctors. When we observe that there are not enough volunteers of this kind, we hire these personnel. Last year we had three people, we currently have two. Apart from directors (hired or volunteering), hiring depend on the projects to be coordinated and managed.
- What opinion do you have about seizure detectors as Seizsafe?
- We need devices for detection and alert. Take into account that mortality among patients suffering epileptic syndromes is high and even higher in some such as Dravet and generally in many of them appears as SUDEP, that we already know is produced by cardiac-respiratory alterations behind an undetected tonic-clonic crisis, especially if it is during night-time, that’s why detecting is indispensable, first for providing medicines when these seizures do not stop and secondly, to identify those crisis that could cause, at worst, the dead of the patient. Given this, every device is not only necessary but a social obligation to diminish the problem created by this disease. Depending on the epileptic facts you are working on, more complex devices are needed because some seizures do note provoke movement and are more difficult to detect, that’s why we need new knowledges, both technologic and scientific, to try to detect, but every device and every action done, as there are not so many solutions in the market, are necessary. What we currently have does not fit the patients’ needs. From Apoyo Dravet, we work, collaborate and align with every project arising in the field of seizure detection to make their developers know the real needs of the patients and to help them develop or improve the product, and help them to reach the market.