Join the Natural History Study

A natural history study is a type of medical study that helps researchers understand how a disease develops and changes over time in a group of patients. Its purpose is to learn more about how the condition affects individuals, thus better care and treatments can be developed in the future. 

This type of study does not involve testing new drugs or treatments. Instead, it focuses on carefully observing and documenting the disease as it naturally progresses. 

Natural history studies are especially important for rare diseases like MCOPS12. Since the number of affected individuals is small and symptoms can vary widely, these studies are a promising path for a better understanding of a disease as well as generating baseline data for a clincial trial.  

The MCOPS12 Natural History Study collects baseline data, assessments of neurodevelopment and motor skills.  

Individuals of any age, from any country, carrying pathogenic or likely pathogenic variants in the RARB gene are eligible to participate.  

The study entails annual participant and physician questionnaires, as well as uploading brain  

MRIs and participant videos. In 2026, the study was expanded to include biomarker research, comprising EEG as well as metabolomic and proteomic analyses of patient blood plasma samples.