The NIH Campus in Bethesda, Maryland, USA.
The National Institutes of Health (NIH) is currently enrolling N-glycanase (NGLY1) deficiency patients into a study of the natural history of the disease.
The natural history of disease refers to a description of the uninterrupted progression of a disease in an individual until recovery or death.
Knowledge of the natural history of disease ranks alongside causal understanding in importance for disease prevention and control.
Natural history studies and registries also play a critical role in the drug discovery and development process.
Standardized natural history registries, tied to tissue banking, facilitate the generation of research leads, and accelerate studies examining associations between phenotype (disease-related physical and mental characteristics) and genotype.
Patient registries represent one of the best resources to collect prevalence, demographic, natural history, and comparative effectiveness data on rare diseases.
Currently, very few rare disease patient registries exist and where they do, they are often limited in their usefulness.
The NIH, FDA, and NORD are currently in the process of building a rare disease patient registry program to ensure rare disease patients have adequate natural history information in order to spur drug discovery and development.