Quantitative longitudinal natural history of 8 gangliosidoses—conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis

Data in this registry raise awareness of these rare and fatal conditions to accelerate diagnosis, inform counseling of afflicted families, define quantitative end points for clinical trials, and can serve as historical controls for future therapeutic studies. We provide further insight into the rare late-infantile phenotype for G-gangliosidosis. Longitudinal follow up is planned.