The Valeria Association - for the research of rare diseases, is a non-profit association under Swiss law. The association is committed:
• to promote research and cure of early forms of epilepsy caused by a genetic defect (KCNT1 de novo gene mutation gain of function and similar). The association supports and promotes the information, awareness and networking of professionals, political and social authorities and the general public.
• to support novel and palliative therapies of KCNT1 patients and other patients with early-onset infantile epilepsy (early-onset epileptic disorders, malignant migrating partial seizures of infancy [MMPSI] and autosomal dominant nocturnal frontal lobes epilepsy).
• to support affected families who are looking after a child who is suffering from an early form of genetic epilepsy or who needs to cope with the loss of their child, which may be due to MMPSI or the like. The association campaigned for improving the quality of life of affected families and their caregivers.
• The association can organize charity events in order to expand the association's financial means and to pursue the purpose of the association.
• The association will operate globally, gathering relevant reasearch resultas and connectin relevant people and research findings.
• The association has charitable character and does not pursue any profit purpose.
• Public relations at various levels on the KCNT1 de novo mutation.
• supporting scientific research
• Collaboration and networking with professionals, professional societies and organizations in Germany and abroad
• Advice and information for those affected and their private and public environment
• Promoting contacts between affected relatives and other interested
After leaving the hospital with Valeria in April 2018 and with the doctors telling us that there was no therapy for this rare genetic defect, we did not give up. We are in contact with three biotech companies, one lab, two pharmacists, several affected families. We hope every day that we can find a cure to this potassium channel disease. In addition, we found very lovely people including Valeria's physician in Switzerland, who help us with our network and connected us to the leading neurogeneticist who can actually help.
are needed to develop a therapyform in order to show that KCNT1 can be cured
costs the FDA approval of a therapy. Venture capital would be available, biotech companies are well on the verge of taking the risk but hesitate. This is the reason why we must show that it is possible to cure KCNT1