Rare Disease Registries (RDRs) for lysosomal storage disorders (LSDs), including Pompe disease, have helped to increase understanding of the disorders and develop monitoring and treatment guidelines. The last 30 years of the history, process, and impacts of the RDRs was discussed in an article published in the Orphanet Journal of Rare Diseases.

“The RDRs are a driver of data and evidence generation that have evolved to contribute to an increased knowledge and understanding of rare diseases,” the study authors said.

The Pompe disease registry contains data from 2467 patients at 240 clinical sites in 47 countries as of February 2022. This data includes 87,251 person-years from birth to last follow-up, 21,761 person-years since diagnosis, and 13,510 person-years since the initiation of treatment.

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A total of 6 publications have resulted from the information contained in the Pompe disease registry, including 1 focused on patient outcomes, 3 describing clinical characteristics of the disease, and 2 natural history studies.

The data helped to show that long-term use of enzyme replacement therapy (ERT) with alglucosidase-alfa preserved forced vital capacity among patients with late-onset Pompe disease. Survival data from the registry was also used to recommend the inclusion of Pompe disease in the Recommended Uniform Screening Panel in the US for newborns.

“RDR data leading to the generation of real-world evidence (RWE) is paramount for improving decision-making about rare diseases within the healthcare multistakeholder ecosystem, from [Health Technology Assessment agencies (HTAs)] to routine clinical practice, with the common aim of improving patients’ and their caregivers’ lives,” the authors said.

The first RDR for an LSD was started in 1991 for Gaucher disease in response to regulatory requirements to establish RWE for the safety and effectiveness of ERT as well as natural history data. RDRs were later established for Fabry disease in 2001, mucopolysaccharidosis type I in 2003, and Pompe disease in 2004.

“Data from the RDRs provide a foundation for the rare disease community to continue to address unmet needs and support research into new and existing therapies, even after a treatment has been proven to be well tolerated and effective through randomized clinical trials, to inform both the medical and patient/caregiver community,” the authors continued.


Mistry PK, Kishnani P, Wanner C, et al. Rare lysosomal disease registries: lessons learned over three decades of real-world evidence. Orphanet J Rare Dis. 2022;17(1):362. doi:10.1186/s13023-022-02517-0