Real world data for rare diseases research: The beginner’s guide to registries

ABSTRACT

Introduction

Rare disease research has specific challenges that can be addressed using registries.

Areas covered

There are at least three different types of registries: patient registries, disease registries, and product registries. Patient registries recruit rare disease patients, potentially including several rare diseases within a registry, while disease registries can be considered a subset of patient registries which focus on specific diseases. Product registries focus on specific drugs. These registries may be used to conduct research that is specifically requested by a regulatory authority, they may be developed by a drug company to monitor the use of a particular drug or may be developed for public health monitoring purposes.

Expert Opinion

Compared to other sources of real-world data (RWD), such as electronic medical records (EMRs) and claims data, registries are more likely to have a correct diagnosis and more specific information about RDs. However, registries also have their challenges. Competition between registries may lead to missing or incomplete data. Registries could also have limited information on drug and medical history, which are better captured in EMRs or claims. Nevertheless, registries remain an important source of RWD in the rare disease space and are increasingly being leveraged to comply with regulatory requirements.

KEYWORDS:

• Rare diseases
• orphan drugs
• real world data
• registries
• healthcare databases

Article highlights

• Research on rare diseases is fraught with challenges, particularly concerning the identification and recruitment of patients for studies investigating drug efficacy/effectiveness and safety.

• Registries are a source of real-world data (RWD) that are useful to address some of the challenges associated with research on rare diseases.

• There are at least three types of registries: patient registries, disease registries, and product registries.

• The main strength of registries is that they are more likely than other RWD sources, such as electronic medical records or administrative databases, to have the correct diagnosis.

• An important limitation of registries is the burden that they can produce on the healthcare system, particularly for physicians, pharmacists, drug distributors, regulators, and manufacturers, in terms of data entry, data management and monitoring.

• The role of registries is increasing in importance within a regulatory setting, where they are being leveraged by the European Medicines Authority and the Food and Drug Administration

Acknowledgments

The authors would like to thank Dr Rima Izem for her contribution to the scientific content of the paper.

Declaration of interests

F Pisa is a member of the International Society of Pharmacoepidemiology (ISPE)’s Special Interest Group (SIG) on Rare Diseases and is employed by Bayer. A Arias is a member of the ISPE SIG on Rare Diseases. Emily Bratton is the Chair of the International Society of Pharmacoepidemiology’s Special Interest Group on Rare Diseases, adjunct Professor at the University of North Carolina – Chapel Hill (Epidemiology Department) and is employed by IQIVIA. M Salas is a member of the ISPE SIG on Rare Diseases and is employed by Daiichi Sankyo Inc. J Sultana is Vice-Chair of the ISPE SIG on Rare Diseases and carries out consultancies for the University of Exeter and the University of Cambridge in therapeutic areas not related to rare diseases. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or material discussed in the manuscript.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Author contributions

FP conceived the paper. FP, JS, EB, MS, and AA prepared the first draft and made critical revisions.

Additional information

Funding

This paper was not funded.