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Patient registries: the quiet revolution in rare diseases

2.6 from 9 votes
Monday, February 23, 2015

Patient registries: the quiet revolution in rare diseases

Shedding light on poorly understood rare diseases is vital to the development of life-saving treatments. Patient registries are a simple, yet powerful tool, transforming the unknown landscape of rare diseases to generate solutions.

Statistics regarding rare diseases are often shocking. While there are known to be approximately 7000 rare diseases, there is very little about them. Most of these diseases are caused by defects in the genes that people are born with, and roughly half of those suffering from rare diseases are children, many of whom will not live to see their fifth birthday.

It is believed that there are about 350 million people around the world living with a rare disease. Here is another shocking statistic - 95% of rare diseases do not have even a single FDA-approved treatment.  

A far cry from the buzz and hype surrounding research and pharmaceutical activity in the more well-known diseases like heart disease and diabetes, rare diseases are neglected and often ignored. With so little that is known about them, it is challenging to develop treatments for patients.

Is there any hope?

CheckOrphan spoke with Catie Olson at Sanford Research, a non-profit organization, which has developed the Coordination of Rare Diseases at Sanford (CoRDS) patient registry, to promote research and the drug development for the millions of rare disease patients who suffer in silence.  

“While rare diseases affect approximately 30 million people in the United States and 350 million people worldwide, patient populations are small and widely dispersed geographically,” explains Olson.

“We hope the CoRDS registry will facilitate collection and analysis of data, encourage partnerships between patients and researchers, and ultimately, accelerate research into rare diseases.”

Connecting patients and researchers

A patient registry collects standardized information on patients with a specific condition, and is used for several purposes. This data can shed light on the natural progression of diseases which are not well understood, connect patients with each other, as well as help researchers recruit patients for clinical trials, and assist them in their research efforts as they attempt to understand these diseases better.

Recently, a joint declaration released by the European Organization for Rare Diseases (EURORDIS), the National Organization for Rare Diseases (NORD) and the Canadian Organization for Rare Diseases (CORD), highlighted the importance of patient registries as a vital mechanism to know more about rare diseases, and as a crucial support for research activities in the quest to develop safe and effective medicines for patients. It has been recognized as an important factor contributing to the successful translation of basic research into treatment in the field of rare diseases.

The likelihood of developing a treatment for a rare disease is known to be greater with the support of a well-executed patient registry, and an active patient organization to support patients and research.

Recognizing the potential of patient registries to enhance the lives of many, Sanford Research and Principal Investigator David Pearce, PhD, developed CoRDS, an international, centralized patient registry for patients with rare diseases.

“Patients and families face many challenges, including a lack of information on their disease and limited treatment options.” Olson tells CheckOrphan. “We hope the CoRDS registry will act as an avenue to connect patients and researchers in order to achieve breakthroughs in research and treatment options.”

The CoRDS registry currently represents 320 unique diseases, with 1,782 enrolled participants, and over a 1000 more screened to enroll. The participants represent all 50 states of the United States of America and 25 countries around the world.

Striking a CoRD with rare disease patients

Rare disease patients often feel a sense of isolation. Very often they may not know anyone else who suffers as they do. In many cases, their physician may be unaware of what is afflicting them, because some of these conditions are so rare that they have never encountered them before.

Taking part in an international registry helps these patients understand their disease better, and it allows them to connect with others like themselves.

Moreover, researchers from anywhere in the world, who have the appropriate approval to conduct research studies, called the Institutional Review Board (IRB) approval, can request access to information deposited in the registry. The staff at CoRDS ensure the protection of patient privacy by de-identifying patient information.

If researchers require more information, CoRDS staff first obtain permission from patients, and then connect them with researchers. In this way, patients receive access to treatments and clinical trials testing therapies targeting their disease.

Says Olson, “CoRDS acts as a clearinghouse between patients and researchers. Patients who qualify will be notified of any opportunities to participate in clinical trials and other research opportunities.”

The CoRDS team also works with patient advocacy groups to help them create a registry, which comes with its own challenges for cash-strapped patient organizations, often run by volunteers. This time-consuming process is expensive, and requires expertise. 

“CoRDS provides patient advocacy groups with a patient registry platform, assistance developing their registry, administrative services, IRB review, and access to data, free of charge.”

 Patient organizations can chose to use the general CoRDS questionnaire to establish a registry, or decide to generate a disease-specific questionnaire to target a select group of patients.

“CoRDS works with the group to develop the questionnaire, build the registry into the online portal, apply for IRB approval, launch the registry, and market the registry to its members. Additionally, CoRDS provides ongoing registry support, including IT support, to patient advocacy groups.”

CoRDS also works with patient organizations to develop questionnaires for rare disease patients who do not have a diagnosis. Many rare disease patients remain undiagnosed, and they are encouraged to enroll.

There is a strong belief at the organization that all patient information, including data obtained from undiagnosed patients, is useful in studying the disease, especially by comparing it with information obtained from other diseases, thereby generating new insights, with the potential for developing therapeutic solutions for patients.

The future looks brighter

New developments in the CoRDS registry platform in the summer of 2015 are expected to simplify enrollment, and improve the ease of navigating the portal. A greater emphasis on empowering patients, will allow participants to use the new platform to understand how their data compares to others in the registry.

Future plans for the registry include tools that permit participants to contact other registry participants, and healthcare professionals who have expertise in their disease area.

Looking to the future, Olson reveals that CoRDS is actively trying to reach out to non-English speaking patients to make its efforts a truly global one.


Contact details of Catie Olson at CoRDS, Sanford Research:



EURORIDS-NORD-CORD Joint Declaration of 10 Key Principles for Rare Disease Patient Registries



Author: Rohini Kashimshetty
Source: Sanford Research
2.6 from 9 votes
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