Informing a national rare disease registry strategy in Australia: a mixed methods study.

ABSTRACT:

Background

Rare disease registries (RDRs) facilitate monitoring of rare diseases by pooling small datasets to increase clinical and epidemiological knowledge of rare diseases and promote patient centred best practice. The aim of this study was to understand the current state of RDRs in Australia, data captured, impact on patient outcomes, funding models, and barriers and enablers regarding their establishment and maintenance.

Methods

An exploratory sequential mixed methods study design was adopted. First, a list of Australian RDRs, primary contacts and data custodians was generated through online and consumer group (Rare Voices Australia (RVA)) contacts. A cross-sectional, anonymous online survey was distributed to registry custodians, managers, or principal investigators of

SUBMITTER: Ruseckaite R 

PROVIDER: S-EPMC10619239 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature