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Sanford’s Rare Disease Registry is One-of-a-Kind

Nov 27, 2017 03:14PM ● By Alex Strauss

By: Alex Strauss

Question: How do you conduct research on a disease so rare, it may affect only a few thousand people worldwide?

Answer: Utilize data from a rare disease registry like CoRDS - Coordination of Rare Diseases at Sanford.

 CoRDS came out of the Sanford’s Children’s Health Research Center which was launched in 2009 to lay the groundwork for Sanford researchers to conduct more studies on rare diseases. Although there are other national rare disease databases, CoRDS is the only one that is free and the only one that is associated with a health system. CoRDS has now registered about 4,000 people, some 800 of whom have “one in a million” type diseases.

“We are the only rare disease registry that can enroll all rare diseases, including those that are not attached to an advocacy group,” says Jill Weimer, PhD, who has been a neuroscientist at Sanford since the beginning of CoRDS.

There are more than 7,000+ rare disease about ⅔ of which affect children. Weimer says many patients with one of  these diseases first get connected to a registry through a grassroots patient advocacy organization.

“They are the ones that collect the information and they are often the keepers of that knowledge,” says Weimer. “But it can become time-consuming and costly to collate and manage all of that data. Even if you pay a person full time to do it, it can be a burden on that person. It is also an added expense that the foundation may not need to be burdened with.”

CoRDS can take some of the burden off of these volunteer foundations by managing the data for them at no cost, while still allowing them to access it. CoRDS can even customize the way the data is collected and managed to suit each foundation’s particular needs. The organization can then share a link to a customized survey with newly identified patients. Patients can also register themselves in the CoRDS database, independent of any group, on the advice of a physician or genetic counselor.

“We knew that one of the big hurdles to working with rare disease patients is just knowing where those patients are,” says Weimer. “Alzheimer’s disease is easy to identify a cohort because everyone knows someone who has it. But when you study a disease that impacts 1 in 200,000 people, it is not as easy to find those people.”

Weimer know this challenge first hand. Her research is focused on an especially rare form of Batten disease, a fatal childhood illness that affects fewer than 1 in 100,000 children worldwide. Weimer has used CoRDS data to develop a new gene therapy for the CLN6 form of Batten disease. Six children have received the treatment which is now in the Phase I clinical trial phase.

“To go on to the next step, the FDA requires you to show that the treatment has efficacy - that it is delaying the onset of disease,” says Weimer. But since there are only 19 children in the US with this form of Batten disease, most of whom are too far advanced to participate in a trial, Weimer says accessing patients to gather natural history is vital. 

“We don’t have enough patients to do sham injections, but we still need data to show how the patients who receive the treatment are progressing in comparison to the typical child with Batten disease,” she says. “Even parents of children who are now deceased can still participate in a natural history study.”

In addition, blood samples collected from registry participants may be used to develop biomarkers to gauge treatment response.

“We do not have good biomarkers for Batten disease, so we are trying to collect blood from patients so that we can see if we can come up with biomarkers that we can use to track during the treatment,” says Weimer.