Establish Diagnostic Criteria

Determine what type of diagnosis is required for joining your registry. Start with the requirement that participants have been diagnosed by a clinician. If needed, include additional diagnostic criteria.

Consider:

• What is the typical method for making the diagnosis?
  • Clinical evaluation (medical history and physical examination)
  • Laboratory tests
  • Imaging tests
  • Diagnostic procedures
• Do patients need to be diagnosed by a particular specialist (neurologist, geneticist, etc.)?
• Are there any specific test results or clinical criteria required for an official diagnosis?

This type of information is considered protected health information (PHI), also known as personal health information, which is defined as all personally identifiable information (PII) such as demographic data (e.g., age, sex, ethnicity/race), medical histories, test results, doctor’s notes, and other information that could be used to identify a patient. The Privacy Rule of the Health Insurance Portability and Accountability Act of 1996 (HIPAA) creates a set of requirements and restrictions for the handling of PHI by certain “covered entity.” “Covered entities” include health plans, health care clearinghouses, and health care providers. In the case of most contact registries, HIPAA does not apply because patients or their parents or legal guardians are the ones providing the information directly to the registry. HIPAA may become important when collecting PHI for research registries. To read more about HIPAA and PHI,  visit the U.S. Department of Health & Human Services (HHS) website.

Overview

Establish criteria to help you determine who is eligible to join your registry. Depending on your registry’s goals and constraints, you may want to recruit broadly or have a narrower focus. Your decisions will affect the cost and complexity of your registry, so keep in mind your short- and long-term goals. You may want to refer to RaDaR Tool: Participant Criteria Checklist.

Set Language Requirements

Decide what language(s) you will use for your registry. The simplest option is to use one language, but given that you’ll want to recruit as many people living with the rare disease as you to your registry,  consider translating your questions into multiple languages.

Consider:

• What languages are spoken by patients and their caregivers?
• How often is English used as either as a first or second language in the countries in which you are recruiting for your registry?
• What language(s) will you use to contact registry participants?
• Are you able to afford professional translators or find qualified volunteers?

One Language:

• PROs: No translation is needed. Using a professional to translate your registry questions into another language can be costly. Using a native speaker as an informal translator can introduce errors or inconsistencies. Cultural or linguistic differences can also impact the way people interpret the registry questions. Work out all the “bugs” in your questions in one language before you translate them into other languages (otherwise, you’ll spend time and money using the translation services each time a change is needed as you work out the kinks). If you work out all the “bugs” first before translating the questions, you may be able to work with international rare disease patient advocacy groups to help fund translation into their language.
• CONs: Some patients may not be able to participate. Multiple languages are used for registries involving participants all over the world. Especially when the patient population is very small, it can be important to include as many people as possible in the registry. If a participant does not speak the language, he or she will not be able to participate unless a friend or relative can complete the registry questions.

Multiple Languages:

• PROs: More patients will be able to participate. Multiple languages are used for registries involving patients all over the world. Especially when the patient population is very small, it can be important to include as many people as possible in the registry.
• CONs: Translation increases the cost and complexity of your registry. It may be difficult to identify translators for each language and assess their ability to be medically and technically proficient. It is important to ensure that the registry questions are translated consistently across the different languages. A translator will also need to convert all the answers back into one language.

Determine Geography

Decide whether your registry will be national or international. To start, it may be easier to recruit only participants who live in the same country as you. To meet your registry goals, you may need to expand the geographic area to include participants from many countries (especially for an ultra-rare disease).

Consider:

• How many people have the disease?
• Where do participants live (which countries)?
• How many participants do you need to meet your registry goals?
• Are you familiar with the data security and privacy laws in other countries? (e.g., The EU General Data Protection Regulation (GDPR) )

National:

• PRO: An option if there are many participants living in one country.
• CON: People from other countries may not be able to participate.

International:

• PRO: An option if there are few participants in any one country.
• CON: Multiple languages, time zones, and cultural differences will create additional challenges.

Consider Constraints

Budget
When first building your registry, start with volunteers and free or low-cost methods for collecting information. At this early stage, your registry is similar to a contact list or member database. If your patient advocacy group has more financial resources, consider the option of setting a higher budget to cover more sophisticated data collection methods or staff. Over time, you will build your registry to include medical information, at which point most patient advocacy groups pay for a service, or link with a research center or vendor to operate their registry.

Knowledge, Skills, and Time
You may need additional skills or experience to collect contact and demographic (e.g., age, race, ethnicity, sex) information. Many patient groups spent a few hours a week getting their registry up and running. Consider how much time you have available and look for one or more partners to join you if your time is limited. Consider the importance of obtaining Institutional Review Board (IRB) approval before collecting participant information. Without prior IRB approval, researchers may not be able to use your registry’s data to publish the results of their study.

Track Progress

Draft a timeline for achieving registry milestones and for staying motivated. The timeline may change, but it will help you track your progress. For example:

• Registry will be set up and ready to collect information by [Date].
• Complete first recruitment push within [#] months.

Develop a Governance Plan

Registries should also create and follow a written governance plan. A good governance plan will provide guidance for making decisions about how the registry is run and how and with whom data will be shared and includes the following:

• Defining objectives
• Identifying stakeholders
• Building your registry team
• Establishing Ethical Legal and Societal Issue (ELSI) privacy and sustainability guidelines

You can read more about governance plans by referring to the paper “Recommendations for Improving the Quality of Rare Disease Registries.”

Visit RaDaR Manage and Share Data to learn about issues pertaining to data access, security, and privacy.

Plan for Roadblocks

Any project is bound to face some roadblocks along the way. Create a list of things that might slow down your progress and include some ideas to move past the obstacles.

Potential Roadblocks:

• Lack of time
• Lack of interest within the patient community
• Competing ideas over the direction of the registry
• Difficulty making decisions
• Existence of other registries for the disease
• Difficulties of working alongside a research group versus doing it by yourself
• Too many “cooks in the kitchen”

Possible Solutions:

• Find others in your patient advocacy group to help share the workload.
• Use social media to create buzz by sharing stories, videos, infographics, and articles. Focus on the needs of the community and how your registry can address them.
• Work to stay unified by compromising and focusing on shared goals.
• Get the advice of other patient advocacy groups that have established similar registries.
• Define roles and responsibilities of registry staff.

Set Goals

Before creating a registry and setting your goals, determine whether a registry has already been created for your rare disease. Partnering with an existing registry allows for you to combine efforts, avoid “reinventing the wheel,” and reduce redundancy. There are many ways to find out whether a registry currently exists for your rare disease.

• Search ClinicalTrials.gov using the term “registry” and the name of your rare disease
• Conduct a general internet search
• Contact patient advocacy groups for the disease
• Contact the Rare Disease Patient Registry Coordinators
• Search the RD-Connect Registry & Biobank Finder
• Reach out to the Genetic and Rare Diseases Information Center (GARD)

After confirming that no other registry exists for your disease, you can start creating your registry.

Be specific, detailed, and realistic about the goals for your registry and clear about what you plan to do with the information you collect. Focus on how you can use your registry to organize your patient community and connect patients and researchers. Have a long-term vision for capturing detailed participant medical information to support the development of new treatments. Below are some goals to consider. Use the RaDar Tool: Registry Plan Template for help getting started.

Short-term registry goals:

• Identify patients who are interested in participating in research studies.
• Describe the personal characteristics of participants in your registry.
• Contact participants to inform them about new studies.

Long-term registry goals:

• Document patient medical history.
• Discover trends and common needs of participants.
• Improve scientific understanding of the disease.

Visit the Resources section of this step for resources that provide additional information for setting up your registry.

Overview

Planning ahead is essential to establish clear goals for your registry and a strategy for collecting quality data. In this step you will define specific, detailed, and attainable goals for your registry; define your constraints; plan for roadblocks and identify possible solutions to them; and establish milestones to track your success.