Dra. Teresa Sevilla and Dr. Rafael Sivera of the Hospital de la Fe, are conducting a study to collect all patients from Spain with CMT caused by mutations in the MORC2 gene and make a genotype-phenotype description.
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The new registry of Mitochondrial Diseases is ready to use. This new registry is the result of the collaboration of Hospital 12 de Octubre, Hospital de Sant Joan de Déu, Hospital de Sant Pau and the Association of Patients with Mitochondrial Diseases (AEPMI). They have defined the variables of this registry to include adult and paediatric patients with the aim of characterizing clinically and genetically patients with these pathologies. This registry is part of the project: National Registry of Neuromuscular Diseases NMD-ES (CIBERER), with 30 hospitals from Spain participating. The design was made with REDCap, a secure web application that facilitates the electronic capture of data for research.