At every conference, it is not uncommon for patient advocacy groups to hear the phrases “you need to do a natural history study” and/or “you need to start a registry”. Unfortunately, it is not always clear what those entities are nor how to develop them.

Natural History

A natural history study looks at the natural changes over time in a patient population. These studies should be conducted on a regular basis as our understanding of a disease and how to manage it are constantly evolving. For example, a natural history study of patients with Duchenne muscular dystrophy (DMD) conducted 20 years ago may have shown that most boys with the condition are wheelchair bound by the age of 10 or 11 years and would have died by their late teens or early twenties. Today, a natural history study would show that improvements in our care of DMD patients, most notably the use of corticosteroids, has allowed these boys to live much longer and furthermore, that the natural progression of the disease may vary with different mutations in the dystrophin gene that led to the condition. And in 10 years, more improvements in the care of DMD will once again require more natural history studies to be conducted.

The importance of the natural history is that it provides researchers with a baseline to examine how the disease progresses so that future studies looking at treatment options can determine if the treatment if effective. The natural history study does not replace the ‘control group’ in a clinical trial but it does provide information to help assess the long-term benefits of a given treatment. It also allows researchers to see previously unforeseen patterns in the disease progression.

Registry

A registry is not a study.   It is a set of data.   A natural history study usually has a start and stop point.  A registry is continuous.   The information in the registry may be the same as that in a natural history study, and quite often a natural history study uses data from a registry, but is should be clear that a registry is not a study. It is data set that can be used to conduct a study.

The value of a registry is that it provides data for a number of studies, including those that assess natural history, diagnosis, treatment, quality of life, healthcare providers, clinical reporting, clinical testing, etc.

A good registry is one that collects as much information as possible to allow researchers to use the data reliably. That means that a lot of planning has to go into a registry to determine what information should be included in the registry, how to add and store the data, and how to allow researchers to use it. All of those aspects of a registry are extremely complicate, and it is advised that most patient advocacy groups interested in starting a registry talk to a number of public and private groups who specialize in developing registries.

Some of the more well established registry companies/organizations are:

CoRDS

CoRDS, or Coordination of Rare Diseases at Sanford is part of Sanford Research, a not-for-profit institute. CoRDS is an international patient registry service focussed on rare conditions.  It is free for patients and to date, they have enrolled over 5000 patients with over 800 rare diseases from 64 countries.

For more information, click here.

RaDaR

The Rare Diseases Registry (RaDaR) program at the National Institute of Health (NIH) is the new name for the Global Rare Diseases Registry Data Repository (GRDR) program. The staff can provide advice for constructing and maintaining rare disease patient registries.

For more information, click here.

Patient Insights Network

Originally known as Patient Crossroads, this private registry company has developed over 400 registries for various medical conditions.

For more information, click here.