Professionals of the Paediatric Neurology of the Vall d'Hebron have performed successfully the first treatment in the State to a patient with atrial spinal atrophy in presyntomatic phase. It is a new gene therapy recently approved. The professionals of Vall d'Hebron also had participate at the trials that have allowed the development of this innovative therapy. cos This disease of genetic origins and degenerative cause, attacks the motor neurons of the spinal cord. This is a minority disease, because affect approximately one in 6000 people. There are four type. The type I and II are the children's form. Type I affect newborn and is the most frequent (50%of those affected), the type II affect children from 6 months old, the type III is the well-known how "juvenile form" and can appear between 18 months and adolescence, and the type IV is the adult form and it has a slow evolution. As explained by Dra. Francina Munell, of the Neurologic Paediatric Service and coordinator of the Paediatric Neuromuscular Disease Unit "the patients' muscles stop working progressively. In the worst form, that is the type I, life's expectancy does not exceed two years from birth." The genetic cause of the atrial spinal atrophy is due a malfunction of the SMN1 gene, which is responsible for generating a fundamental protein for motor neurons. cos Until now, there was no treatment for this pathology. Currently there are a gene therapy against the worst form of this disease. Vall d'Hebron was the only center in Catalonia and one of the two centers of the State that participate in the international clinical trial to develop the therapy for the type I form. "This gene therapy consists in administration of an anti-sense oligonucleotide that acts cleverly - explain Dra Francina Munell, who is also http://en.vhir.org/portal1/fitxa-personal.asp?id=51574 researcher of the Pediatric Neurology at the Vall d'Hebron Research Institut (VHIR) - we have a gene named SMN2 that has no important functions but is very similar to SMN1 gene. This therapy works on SMN2 to be similar at the SMN1 gene. This way it replaces it in its function and compensate its deficit generating the necessary protein for the motor neurones". cos First presymptomatic patient treated in the State cos Vall d'Hebron has been applying this treatment in a presyntomatic patients since she had three weeks of life and who is carrying the SMN1 mutation. It is uncommon to be able to diagnose this pathology before the first symptoms appear. The Dr. Alfons Macaya, head of the Neurologic Pediatric Service and thehttp://en.vhir.org/portal1/grup-equip.asp?s=recerca&contentid=186880 Pediatric Neurology Group at the VHIR, points out that "in this case, the diagnostic could be made prenatal since the parents had two children who died for the same illness. therefore, we performed a genetic test on the fetus and we found that she is carrier of the SMN1 mutation. Currently, the patient has 9 months old, has not developed any of the symptoms of the disease and has a normal development. This patient is being closely monitored by different specialists from the Neuromuscular Disease Unit to verify that there are no symptoms of pathology in the future. Is important to point out "this therapy slows the progression of the disease but does not reverse it" emphasizes Dr.Alfons Macaya. In this case, as the treatment was applied with only three weeks of life, this has allowed that the symptoms do not appear. "But if it is applied to patients with symptoms, at most we can get is the disease not progressing, never reversing it". Insists Dra. Francina Munell cos Center of reference in Neuromuscular and Rare diseases cos The application of this advanced therapy in Vall d'Hebron has been possible thanks to the work of the professionals of the Neuromuscular Diseases Unit, consisting of paediatric neurologists, infant pneumologists, paediatric intensive therapists, neonatologists, paediatric experts in nutrition, rehabilitation, physiotherapists, palliative, specialists in genetic diagnosis, neurophysiologists and others professionals. On the other hand, a case manager is responsible for coordinating all patients' visits, which due to their complexity, have to go through many specialists. This nurse is also available for patients, relatives and other caretakers can consult questions about other pathology issues. cos cos Vall d'Hebron has been accredited by the Ministry of Health as CSUR (Centers, Services and Reference Units) in Neuromuscular Diseases and Rare Diseases and is also part of the European Reference Network (ERN) in Neuromuscular Diseases. cos New gene therapy on the horizon cos "Now we have other international centers in place to evaluate the efficacy of the gene therapy that is substitutive for this pathology" says Dr. Francina Munell - this strategy will allow us to replace SMN1 gene for a correct version of it and we hope to be able to check its effectiveness soon".