The natural history of a disease is the course a disease takes in individual people from its onset until its eventual resolution through complete recovery or death. Our Natural History Study is building a registry of patients with confirmed MCOPS12 diagnosis. This directory will allow the scientific community to compare cases, discover new phenotypes and re-contact families as new discoveries are made. Further, it is demanded by health authorities when submitting the dossier for conducting a clinical trial.
The Natural History Study on MCOPS12 is a systematic collection and analysis of comprehensive, longitudinal data collected from families diagnosed with MCOPS12. The goal is to compile comprehensive medical data from each individual and expand the study over time, allowing researchers to compare pre- and post-treatment results on an individual basis.
Online tools for a patient registry and Natural History Study protocol are currently in development and more info will be shared after finalization at the end of this year.