Neurosciences
Neuromuscular & Mitochondrial Pathology
Ramon Martí
Researchers Elena Garcia Arumí, Tomàs Pinós Figueras, Yolanda Cámara Navarro, Javier Torres Torronteras | Researchers in training Àstrid Brull Cañagueral, Lídia Carreño Gago, Raquel Cabrera Pérez, Ferran Vila Julià, Cora Blázquez Bermejo, Carlos Bilbao Henrich, David Molina Granada, Alberto Real Martínez, Juan Muñoz Rosales | Nursing, technical and administrative staff Xavier Ortega González, Maria Jesús Melià Grimal
Summary
Over the year 2015 we have achieved significant advances in the research line of mtDNA depletion syndromes, specifically the myopathic form caused by TK2 deficiency. As a result, we have published an important report in Neurology, a high impact factor journal in the area of the neurosciences (Camara et al, Neurology, 2015) and we have obtained two patents (one shared with Columbia University of New York, VHIR participation, 20%; and another one shared with the CIBERER, VHIR participation, 70%).
In 2015 we have also achieved an important milestone, namely getting the Protocol Assistance by the EMA for the design of a clinical trial for MNGIE using an AAV vector, for which we obtained Orphan Drug Designation in 2014.
Finally, our European project EUROMAC reached an important milestone consisting on starting the register of patients procedure. In the frame of this project we also generated another important collaborative publication (Quinlivan et al, Neuromus Dis 2015).