Program Established by the NIH to Help Rare Disease Advocacy Groups Start Patient Registries

The Beginnings

Anne Pariser worked for 16 years at the FDA. For part of that time, she was a team leader for the Center for Drug Evaluation and Research where she was responsible for reviewing rare disease applications. In 2010, she founded the Center’s Rare Diseases Program. Now, Pariser is the Director of the Office of Rare Diseases Research at NCATS, a branch of the NIH.

In 2010, NCATS formed the Global Rare Diseases Patient Registry Data Repository, or GRDR. Its goal was to create a singular, secure, online place to collect patient data (de-identified) from various rare disease registries.

What exactly is a patient registry? The definition itself can be quite broad. It can be as simple as a collection of patient email addresses or a Facebook group. A natural history study, on the other hand, collects detailed data on the course of a disease over time. These studies can provide a historical comparison for researchers.

NCATS believes that every single rare disease should have a good quality, scalable registry in order to establish the best environment for research.

“Data is most useful if it can be shared, trusted, found and analyzed.”- Pariser

From 2010 to 2013, the GRDR program added data from 12 different registries, all established by advocacy groups.

Unfortunately, while the idea was good, the process was slow. Imputing the information into common data elements was labor-intensive, meaning it would take a long time to input the amount of data NCATS truly desired.

So, they changed their approach.


NCATS calls their new program RaDaR, or the Rare Diseases Registry Program. It officially launched in February of this year. Its goal is to help patient advocacy groups (especially those with limited resources) create their own patient registries or improve the registries they currently have. Every consortia involved in the program, as part of their grant, is required to conduct longitudinal observational studies. The information included in a registry could be vital for the next innovative treatment discovery. The program also provides education on good data practices.

Currently, RaDaR has 21 different consortia covering 200 different diseases, and its only been in existence for three months. That’s a big jump from what data the GRDR was able to collect over three years.

The program takes a tiered approach. The first tier includes patients demographic data, the second includes their diagnosis, and the third includes the unique characteristics of their specific rare disease.

The goal is ultimately to help spark the initiation of a natural history study or a registry for each and every rare disease.

In recent years, the number of registries has been rising, which is often one of the first steps in the discovery of novel treatments.

One of the rare disease patient registries that has been around the longest was formed by the Cystic Fibrosis Foundation back in the 1960s. Many consider this organization’s patient registry to be the “gold standard.” Other diseases besides cystic fibrosis with well-established registries are Duchenne muscular dystrophy and Friedreich’s ataxia (run by the Friedreich’s Ataxia Research Alliance).

Hopefully, as word of this new program spreads, more and more rare diseases will receive their own registry. In the longterm, this program should bring improved outcomes to the future of rare disease research, and most importantly, rare disease patients.

You can read more about RaDaR here.

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