Rare lysosomal disease registries: lessons learned over three decades of real-world evidence.
Orphanet J Rare Dis
; 17(1): 362, 2022 10 17.
Article
in En
| MEDLINE
| ID: mdl-36244992
ABSTRACT
Lysosomal storage disorders (LSD) are rare diseases, caused by inherited deficiencies of lysosomal enzymes/transporters, that affect 1 in 7000 to 1 in 8000 newborns. Individuals with LSDs face long diagnostic journeys during which debilitating and life-threatening events can occur. Clinical trials and classical descriptions of LSDs typically focus on common manifestations, which are not representative of the vast phenotypic heterogeneity encountered in real-world experience. Additionally, recognizing that there was a limited understanding of the natural history, disease progression, and real-world clinical outcomes of rare LSDs, a collaborative partnership was pioneered 30 years ago to address these gaps. The Rare Disease Registries (RDR) (for Gaucher, Fabry, Mucopolysaccharidosis type I, and Pompe), represent the largest observational database for these LSDs. Over the past thirty years, data from the RDRs have helped to inform scientific understanding and the development of comprehensive monitoring and treatment guidelines by creating a framework for data collection and establishing a standard of care, with an overarching goal to improve the quality of life of affected patients. Here, we highlight the history, process, and impact of the RDRs, and discuss the lessons learned and future directions.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Lysosomal Storage Diseases
/
Rare Diseases
Type of study:
Guideline
Limits:
Humans
/
Newborn
Language:
En
Year:
2022
Type:
Article