Natural History Study
In collaboration with A Cure for Sophia and Friends, A Cure for Sienna and Cure MCOP12, CHU Sainte-Justine has launched a MCOPS12 (RARB) Natural History Study in 2024.
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.
Do you treat a patient diagnosed with MCOPS12?
Please contact ms Valerie Chu, genetic counsellor and study coordinator, CHU Sainte-Justine, Montreal, Canada