Registries for Rare Diseases: Involve the Patient

Marshall L. Summar, MD


January 14, 2015

Editorial Collaboration

Medscape &

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I am Marshall Summar, chief of genetics and metabolism at Children's National Medical Center in Washington, DC, for Medscape Rare Diseases. Today I am going to talk briefly about the need for registries, or longitudinal natural history studies in the field of rare diseases.

As the field has grown and we have now identified more than 7000 different rare conditions we are confronted with, the problem is that there are still very few patients in each group. Our understanding of the underlying pathophysiology and the natural history is often limited, and when we are trying to develop new treatments and therapies for these patients, we just don't know enough about what we are doing.

National efforts are going on to develop registries for rare diseases. On an individual basis, if you follow a patient with a rare disease (and 8% to 10% of Americans have some form of rare disease), look and see what is available in terms of information collection, what is going to add to the knowledge base for that patient's rare disease.

One example is the National Institutes of Health's Rare Disease Clinical Research Network (RDCRN). Currently, 22 different longitudinal studies are in progress at multiple academic institutions across the United States, and approximately 25,000 patients are participating.

By collecting this information, we found that we can accelerate the process of treatment. In one of the groups in the RDCRN network, there are fewer than 1000 patients, yet three new therapies have made it all the way through FDA approval in the past 10 years simply because the patients are organized around a common goal; the information is available to know what is going on with the patient, what they might need.

As a clinician, though, you also might be interested in these. You often don't know what is happening with a rare disease. I know I still have to look it up and I have been in the field for a long time. What are the incidences? What are the secondary complications? What are the comorbid conditions?

Most of the publications that you will find on rare diseases center on the initial description of a few patients. Others are simple reports of unusual findings or unusual presentations. There is a big knowledge gap about what happens in the day-to-day lives of our patients with rare diseases. These longitudinal studies are ways to begin to address that.

The National Organization of Rare Diseases (NORD) is developing patient-entered registries. You can't ask busy clinicians to spend all of their time entering data in a registry. They would have no time to see patients; they would be data entry clerks, and in a private practice they simply can't do that.

NORD is developing a system for patients and their families to enter their own data., . Sometimes patients need some input from their physician. Sometimes the patients can enter the data themselves. This method of collection has been well validated for accuracy and is a significant cost reduction in doing a study. A rare disease research network funded by the National Institutes of Health, philanthropy, and a major academic center can cost upwards of $1-$2 million annually to run. A patient-driven rare disease organization or patient-driven registry can cost as little as $10,000 to $15,000 annually, run with data that are very useful both for understanding what is going on with the disease and for what therapies may be needed.

So, when you are working with your patients and you find patients with rare diseases, encourage them to look for what is available in terms of longitudinal registries. Encourage their participation, and if you can participate yourself, it would certainly be helpful.

What is our take-home message about longitudinal histories (or registries, as we often call them)? They are important for us to understand what is happening with our patients. We can develop better therapies by understanding the comorbid conditions and the long-term consequences of rare disease. Try to get your patients with rare diseases enrolled in registries. You will learn more. Your patients will learn more, and it will actually be easier to take care of them. You will have access to information that you might not otherwise have.

I appreciate you taking the time to listen to this. Stay tuned because there will be more information developing around the rare disease field in the future.


NORD Patient Registry Information


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