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Juvenile ALS is a very singular and rare type of Amyotrophic Lateral Sclerosis

Thursday, 21 June, 2018

Vall d’Hebron has organized the third Commemorative World Wide Day for the Amyotrophic Lateral Sclerosis (ALS). ALS is a neurodegenerative disease that leads to paralysis by affecting the motor neurons, with no treatment to cure or stop its development. ALS Multidisciplinary Unit of Vall d’Hebron will participate in an international clinical trial from the last trimester of 2018.

Vall d’Hebron has organized the third Commemorative World Wide Day for the Amyotrophic Lateral Sclerosis (ALS). ALS is a neurodegenerative disease that leads to paralysis by affecting the motor neurons, with no treatment to cure or stop its development. It is estimated that in Catalonia there are around 400 patients with ALS, and around 4000 all over Spain. By this means, ALS is included in the group of rare or minority diseases.

The first symptoms of ALS use to be presented around the age of 60 years old, although other ages have been described. In this World Wide Day edition, a special focus on juvenile forms of the disease have been tackled, as they have very special traits in its symptoms and its life expectancy, the life routine of the patient and the influence of his/her social surrounding. Juvenile ALS is rare, affecting 5-10% of the patients.

Dr. Josep Gámez, coordinator at the Multidisciplinary ALS Unit of Vall d’Hebron University Hospital, explains that, in juvenile ALS, prevail “the first motor neuron symptoms, as the hypertonia, hypereflexia or spasticity, especially frequent in the legs. Quite probably, juvenile ALS, more frequent among men and with a different phenotype, is an ALS subtype, with a high genetic factor implication and low relevance when it comes to the environmental factors”.

In ALS, because of the progressive decrease of motor neurons, the first symptoms appear. Among the vast majority of the patients (70%), the first symptom is based on the loss of strength and the hand muscular atrophy, or low skills on the steps with frequent fallings. Approximately the 25% of the patients, the initial symptoms consist on problems on the speech or swallowing, which means that the bulbar motor neurons are the ones entering a degenerative process. There are other options on the clinic introduction of this disease, although much rarer: as respiratory insufficiency, loss of weight or asthenia, legs spasticity, emotional lability or cognitive degradation. In advanced stages of the disease, even the ocular muscles can paralyze. In the latter stages of the disease, the paralysis of the respiratory muscles lead to the respiratory insufficiency, main cause of death.

90% of ALS cases are sporadic, without family background. Only 10% are familiar, generally inherited from dominant traits. The incorporation of new molecular genetics techniques in research has led to the identification of more than 25 genes involved”, explains Dr. Gámez.

During the institutional inauguration, Mr. Josep Maria Argimon, managing director of the Catalan Institute of Health (ICS) has pointed out his pride inaugurating his role with this Day, hosted by “an excellent hospital in research and attendance, added to the excellence that listening and learning from the patients mean, being the ones that know the most about the disease”. In addition, Dr. Vicenç Martínez, manager of Vall d’Hebron University Hospital, has emphasized the “importance of the Neurology Department of the ALS Multidisciplinary Unit to keep developing possible treatments and research in this disease”.

During the event, one of the patients shared his experience in a round table with professionals and care providers. Jordi Sabaté, 34 years old patient, opened up by saying that “ALS is one of the worst diseases that a person can go through. I am preparing myself to confront with the worst outcome, but I am also opening up to the possibility that the experts find new drugs, and that is why all these events are so important, as they pay attention to the disease”. Similarly, Félix Duque, 42 years old patient, remarked, “I cannot make most of the things that I used to carry out before, as being a hair-dresser, which was my profession. This disease is cruel, but I have also found that other people suffer it, highly, and I am hoping that the research will advance fast”.

 

ALS Multidisciplinary Unit at Vall d’Hebron

 

Vall d’Hebron has an ALS Multidisciplinary Unit since 2013. The Unit is considered a Reference Centre within the National Health System (CSUR) and belongs to the Euroepan Reference Networks (ERNs) for rare neuromuscular diseases. As Dr. Maria Salvadó pointed out, neurologist at the ALS Multidisciplinary Unit of Vall d’Hebron, the unit works as a network. It is formed by “neurologists, specialized nurses, case managers, speech therapists, communication and mobility device technicians, pneuomologists, rehabilitators, physiotherapists, social workers, nutritionists, neuropsychologists, endoscopists and occupational therapists, among others, that after the visits evaluate the needs of each patient in an individual manner to provide the best solution”.

Among the tests to diagnose and follow up the disease, there are the “diagnostic imaging techniques, electrophysiology, analytic laboratory, functional respiratory tests, lumbar puncture and, rarely, a muscular biopsy”, mentions Dr. Salvadó.

 

Innovative Research at Vall d’Hebron

 

Currently, there are no drugs able to cure or stop the disease. Only two drugs are available that can elongate few months the survival. During the event, Dr. Josep Gámez, also head of the research group on Peripheral Nervous System at Vall d’Hebron Research Institute (VHIR), explains that “our main research lines are based on the molecular mechanisms of ALS and how the genetic mutations in the familiar ALS predispose or modify the genetic factors”. At the moment, Dr. Gámez’ team is researching on the role of the signaling genes in the pathogenesis and the familiar and sporadic types of ALS. “Our work also consists on researching effective biomarkers in the blood and the cerebrospinal fluid, which will allow the evaluation of new candidate drugs for the treatment of this devastating disease”, adds Dra. Salvadó, who is also a researcher in the Group of Peripheral Nervous System of VHIR.

Moreover, the ALS Multidisciplinary Unit of Vall d’Hebron will participate in an international clinical trial from the last trimester of 2018.

 

Artero donates 3000 euros to finance ALS research at VHIR

 

During the event, Artero Company, scissors and cosmetic products producer, involved in the hair-dressing field, has delivered 3000 euros to the research group in ALS at VHIR. Artero has designed the professional hair dressing scissors named Artero One 7’ Special Edition Félix Duque, honoring the hairdresser, who suffers from the disease.

 

Benet Rossell awards

 

Closing the event, the Benet Rossell awards were delivered, named honoring the multifaceted artist with the same name, who died at the age of 78 years after fighting against ALS.

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Dr. Josep
Gámez
Head of Section
Neurology
Lead Researcher
Peripheral Nervous System
Dra. Maria
Salvadó
Researcher
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