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Orphan Diseases: Empowering Patients, Researchers and Clinicians through a Common Health Information Registry

Registries empower patients to support their care and treatment while providing much needed data for researchers.


Orphan diseases are rare diseases with an incidence of approximately 5 cases per 10,000 in a given population. Their rarity makes it difficult for practitioners to provide best treatment for patients, as they have little experience in dealing with the condition and the necessary data to provide evidence-based recommendations usually does not exist. Patients too have difficulty in obtaining useful information to help them cope with their disease.

Although the number of patients seen by individual practitioners is small, world-wide it is estimated that more than 55 million patients are affected by the 5,000–8,000 known different orphan diseases. This makes orphan diseases a candidate for establishing a sharable information system to support communications between patients, providers, and researchers.

Empowering a community of individuals that share a common disease, enhances the potential to accelerate research and identify improved treatment options. Orphan disease registries can empower patients to support their care and treatment, and enable medical providers and researches to have access to patient data including activities and behaviours that may impact treatment. The information in a registry can also be used to facilitate treatment rotocols including biomarkers to aid diagnosis, and the development of new drugs and treatments.

This paper presents a strategic plan and design for implementing Orphan disease registries within an e-health environment that specifically links patients and providers with researchers. The implementation and potential of these systems is illustrated using an Adrenocortical Carcinoma Registry.

Orphan Disease Registry

© The Journal on Information Technology in Healthcare 2007; 5(6): 399–407

(Source: Scientific Technologies Corporation Website)

To view the complete report (PDF format), click HERE or copy/paste into your browser’s address bar.

Опубликовано в Around the Globe


The P/P Registry has been approved by the Western Institutional Review Board (WIRB) and is actively enrolling participants.