RARE Toolkits

Below is a list of all of our current RARE Toolkits.

UNDERSTANDING REGISTRIES

Section 1: Understanding Registries

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A rare disease patient registry is an online database set up to collect, store, retrieve, analyze, and disseminate information on individuals—both children and adults—diagnosed with a specific rare disease or genetic disorder. A rare disease is defined by the National Institutes of Health as one that affects fewer than 200,000 Americans.

The registry serves as an organized, interactive system, based on uniformly formatted information obtained directly from patients, families, a treating physician, or healthcare professional. Laboratory and/or genetic test results, and even the collection of biomaterials, are increasingly added to or accompany the individual patient file.

Registries vs. Clinical Trials

One of the primary qualities of a registry, compared to a clinical trial, is that a clinical trial normally requires a specific hypothesis or intervention that is being tested, such as a drug or therapy.

By contrast, a registry is normally “observational” in nature, which means it collects data on a voluntary basis in the normal course of a physician’s or patient’s actual experience and does not set any particular obligation to participate, schedule, or undergo treatment.

Registry Designs

There are many different types of registries, according to Catherine Olson, Director of CoRDS, or the Coordination of Rare Diseases at Sanford, a not-for-profit research institution based in Sioux Falls, SD.

“Some registries track 50 people over a specific amount of time, and others track thousands of people for as long as they will let you,” she said. “There are registries involved with collecting samples for bio banks or tracking a drug treatment, and there are registries created to find donors that would agree to provide blood or other biomaterial.”

Government researchers report that less than one-fifth of the 7,000 known rare diseases have an established registry set up to follow the progression of a disease. Many rare registries are operated by patient advocacy organizations, often through a partner institution; by scientific researchers working in academia; or by a pharmaceutical or biotechnology company focused on drug development.

 

Geographic Scope

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Typically registries are country specific, but in rare disease the need for a global approach can be a key factor to avoid multiple registry efforts that split the efforts to collect meaningful data. Many successful rare international registries have been developed, particularly when a registry has yet to be initiated or when a treatment comes to market that focuses the community on a single registry. Increasingly, government health officials around the world are working to establish both uniform research tools and open, web-based software designed to build global disease registries.