Module 1 · Part 1 · Planning

Fit for Purpose, Defining Your Registry's Goals

Define your registry's primary purpose before a single line of data is collected. This decision shapes every subsequent choice about data elements, platform, governance, and partnerships.

Patient Registries 101 · Dr. Danielle Boyce · EpilepsyLive

The most important question you'll answer

Before choosing a platform, hiring staff, or designing a questionnaire, you must answer: What is this registry for?
Patient registries are not one-size-fits-all.

1. Natural History / Disease Characterization Registry

Purpose: Document the course of a disease over time, who gets it, when symptoms begin, how it progresses, what complications arise, and how participants are currently managed.
Typical data collected: Demographics, symptom onset and severity, diagnostic journey, comorbidities, current treatments, functional outcomes, quality of life measures, biosamples.
Value: Natural history studies are foundational to the entire drug development pipeline.
Key resource: FDA Guidance: Natural History Studies for Drug Development

2. Clinical Trial Recruitment Registry

Purpose: Identify and pre-qualify participants who may be eligible for clinical trials.
Typical data collected: Diagnosis confirmation, key inclusion/exclusion criteria (genotype, age at onset, current medications, prior treatments), willingness to participate, geographic location, tr…
Value: Rare disease trials fail most often due to insufficient enrollment.
Important distinction.
Key resource: NORD Rare Disease Registry Program

3. Contact / Participant Community Registry

Purpose: Maintain a list of participants and caregivers who want to stay connected to research updates, participate in surveys, or be contacted about future studies.
Typical data collected: Name, email, diagnosis, age, geographic region, expressed interests.
Value: Builds community, enables rapid surveys, and serves as a pipeline for more detailed data collection over time.
Privacy consideration: Even a simple contact registry requires privacy policy, consent, and a plan for data security.

4. EHR-Linked Registry

Purpose: Systematically extract structured clinical data from electronic health records, at scale, with minimal participant burden.
Data sources: Problem lists, medication records, lab results, imaging reports, clinical notes (via NLP), encounter data.
Value: Rich longitudinal clinical data without requiring participants to self report.
Complexity: High. Requires technical infrastructure (FHIR APIs, data harmonization), site agreements, and careful attention to the 21st Century Cures Act framework.

5. Biosample Registry

Purpose: Link participant clinical data to stored biological samples, DNA, plasma, tissue, CSF, available for future research.
Typical data collected: Sample type, storage location, collection date, associated clinical phenotype, consent scope for sample use.
Value: Enables biomarker discovery, genetic studies, and drug target identification.
Key resource: ISBER Best Practices for Biobanking

6. Quality of Care / Outcomes Registry

Purpose: Track real world outcomes, treatment patterns, complications, health resource utilization, to improve standards of care.
Typical data collected: Treatments received, dosing, adverse events, hospitalizations, functional status over time.
Value: Informs clinical guidelines, supports comparative effectiveness research, and provides postmarket surveillance data valuable to industry partners.

Registries are not mutually exclusive

Most successful advocacy organization registries start with one purpose and expand over time.
Design for expansion from the start.

The purpose statement

Before proceeding to the next module, write a one-paragraph purpose statement for your registry.
Who are we collecting data about?
What data will we collect?
What scientific or clinical questions will this answer?
Who will use this data and how?
What does success look like in 5 years?

The purpose statement (cont.)

This statement will guide your IRB application, your platform selection, your data governance policy, and your partnership conversations.

Checklist

[ ] Identified primary registry type(s)
[ ] Written registry purpose statement
[ ] Confirmed purpose with scientific advisory board (or identified need to form one, see Module 3 )
[ ] Identified 3 to 5 key scientific questions the registry will answer
[ ] Mapped purpose to likely data elements (rough draft)
[ ] Identified whether biosamples will be collected

Checklist (cont.)

[ ] Determined geographic scope (single site, national, international)

Key resources

AHRQ Registries for Evaluating Patient Outcomes: A User's Guide (4th Ed.) , the definitive reference
FDA: Participant-Focused Drug Development Guidance Series
NORD Rare Disease Registry Program
PCORI: Patient-Centered Outcomes Research
Continue to Module 2: Governance & IRB →