**Background:** Rare diseases (RDs) affect approximately 8% of the global population (over 400 million people) and about 2 million Australians. The Australian Government's National Strategic Action Plan for Rare Diseases (the Action Plan) calls for a national, coordinated approach to RD data collection, including registries. Rare disease registries (RDRs) are critical for epidemiological research, quality improvement, clinical trial recruitment, and post-marketing surveillance. This scoping review aimed to describe the current state of RDRs in Australia, including their funding, data collection, and impact on patient outcomes.
**Methods:** A literature search was conducted in MEDLINE, EMBASE, CINAHL, PsycINFO, Google Scholar, and grey literature from inception through November 2022. Dissertations, government reports, randomized controlled trials, conference proceedings, posters, and meeting abstracts were included. Articles were excluded if they did not discuss RDs or were not in English. Data were extracted on registry objectives, management, population size, data captured (demographic, clinical, patient-reported outcome measures [PROMs], quality of life [QoL]), funding, and consent models. The review followed PRISMA-ScR guidelines.
**Key Results:** The search yielded 741 database records and 92 grey literature items; after deduplication, 523 were screened, and 103 publications/online sources were included. Seventy-four RDRs were identified: 19 (25.7%) global registries with Australian participation, 24 (32.4%) Australian national registries, 10 (13.5%) Australia and New Zealand (ANZ) registries, 5 (6.8%) Australian jurisdiction-based registries, 16 (21.6%) umbrella registries covering multiple conditions including some RDs, and 13 (17.6%) rare cancer-specific registries. Most registries (63.5%) were established in the 2000s. Population sizes varied: only 16 (21.6%) captured >1000 patients, and 5 (6.8%) captured >4000 patients. The largest was the International Collaborative Gaucher Group Registry with >120,000 participants. Data entry was primarily online (56.8%), with 6.8% using paper or both. Data management varied: global registries often had patient-entered data, while ANZ and Australian registries were mostly clinician-entered. Most registries collected similar data types: demographics (name, age, gender, address, etc.), diagnostic/clinical variables (symptoms, genetic results, imaging, functional status), treatment/procedure details (medications, surgeries), and PROMs/QoL. However, PROMs were captured by only 5 global registries and 4 ANZ registries. Timing of data collection was inconsistent (e.g., annually, every 6 months, or at specific intervals). Reporting outputs (annual reports, newsletters, publications) were available for 32 (43%) registries. Funding sources included industry partners, non-profit charities, fundraisers, and government grants. The review noted significant heterogeneity in data collection, scope, quality, and sustainability among RDRs.
**Clinical Implications:** The heterogeneity and lack of coordination among Australian RDRs limit their ability to support clinical care, research, and health system planning. Many registries lack sustainable funding, clear purpose, and complete data, leading to poor data quality and limited clinical awareness. The review identifies the need for a nationally coordinated approach, including a minimum dataset aligned with international standards (e.g., EPIRARE's 16 common data elements), sustainable funding, clinician-led governance, low-burden data collection, and mechanisms for consumer contribution. Successful exemplars like the Australian Cystic Fibrosis Data Registry (ACFDR) demonstrate the value of sustained funding, broad support, and experienced management. A national strategy could improve understanding of RD burden, enable evidence-based care, support clinical trial recruitment, and ensure equity in data and knowledge for rare diseases compared to more common conditions. The findings directly support Implementation step 3.1.4.1 of the Action Plan and call for cross-jurisdictional government engagement and investment.