ABSTRACT
Patient registries supported by both industry and patient advocacy organisations are critical to collect natural history information, diagnostic testing results and family history information. A registry is a systematic collection of standardised data on a group of patients. The starting point of a registry is to develop a list of patients. Once a patient group is defined, a variety of different data can be collected. Best estimates are that fewer than 20% of rare diseases have registries, and patients' organisations or academic researchers operate most of these registries. Rare disease research benefits from the active participation of patients and their families. Through tools such as patient-driven registries, individuals and their families are no longer bystanders, passively watching the research process unfold. Patient self-report registries take the approach of allowing patients to opt-in to a registry and provide detailed medical histories and confirmatory testing results themselves.
