RARE Toolkits

Below is a list of all of our current RARE Toolkits.


Section 6: Conclusion

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Rare disease registries can play a vital role in providing researchers new insights into rare diseases that can help lead to earlier diagnosis, improved care, and new therapies. But building a rare disease registry represents a commitment not only of time and effort, but of money.

The cost of a rare disease registry will vary depending on several factors. Experts say it can carry significant costs, or very little, depending on whether an organization decides to rely on its own technology and people to manage and update the data, perform outreach, and ensure participants update and answer questions, or rely on another organization to handle these functions.

Organizations have options to outsource any and all functions of a registry, to partner with other organizations to share costs, or rely on existing registries that may be available at no cost. The answer may ultimately depend on the resources an organization can bring to bear and what they are hoping to accomplish.

Beyond the question of affordability, organizations will also need to consider questions of control. While it may be a financially attractive alternative to work with an existing registry where a drug company or well-financed organization provides oversight and financial support, it will be important to determine whether access to the data is restricted by the registry creator and whether providers of data will have access to it and under what conditions.

“One big question is, ‘Who owns the data and who has access to the data?’ Drug companies can give you money to create a disease registry, but it’s important to understand whether patients have access,” said Phelan-McDermid Syndrome Data Network’s Liz Horn. “Drug companies can be very helpful partners. The downside is if a drug company decides to kill a project, or if a project for some reason is stopped, you are left hanging and the data is lost. If you want access, make sure the platform or institution you choose gives you access.”

Critical to determining the correct path for any organization is to understand what the organization hopes to do with the data. In reality, not every group should have a standalone registry. Small organizations with limited budgets and no relationships with clinicians simply may not be ready to build a registry.

Before moving forward, find similar groups that have gone through the process of building a registry and talk to them. Find out what worked and what didn’t in their effort to build a registry. Find out what they would do differently knowing what they know now.

“Most groups aren’t ready to jump right in. It’s hard to tell people who want to run that they have to walk first,” said Liz. “It’s especially hard because they have a sick child or family member, and they are desperate to find help.”