Non-profit association with 28 families in Spain with children with a very rare genetic mutation, SCN8A. Our children can suffer from very severe encephalopathy, with epileptic seizures that are very difficult to control and other symptoms, such as motor and/or intellectual disability, autistic traits... We need funds and with the help of Teamers and other initiatives we want to finance research projects and the dissemination of the disease among families, doctors and researchers.
With the help of our Teamers and other initiatives, we have participated in the financing of a project led by Danish researchers in a centre specialising in the study of genetic epilepsies. We have worked on disseminating the disease among families, doctors and researchers. We have made progress in the OBJECTIVE that we set ourselves of finding diagnosed children, forming a community and thus being interesting for pharmaceutical companies, and getting them to bring their clinical trials with specific molecules for SCN8A to Spain. The first clinical trial with a specific molecule for SCN8A that is being conducted in Europe is based in Spain, and is already in Phase 3.
Publié le
04/10/2022
Page Web :
http://Www.scn8a.es
Gracias a la ayuda de los Teamers y otras iniciativas llevadas a cabo, hemos participado por primera vez en un proyecto liderado por unos investigadores daneses, en un importante centro especializado en epilepsias genéticas. El proyecto tiene como finalidad el estudio de la "Historia Natural de SCN8A". Se trata de ver cómo evoluciona la enfermedad;
1 commentaires
Date de publication
04/10/2022
Domaine
Aide à des malades
Personnes handicapées
Recherche
Pays
Espagne
Région
Madrid
Copie et colle l'url
https://www.teaming.net/scn8aespana
