Publications

Why publish?

Publications are how science moves. A registry that collects data but never publishes it does not advance the field, does not attract researchers or industry partners, and cannot demonstrate value to funders.

Strategic reasons to publish:

• Establish scientific credibility for your organization
• Demonstrate registry data quality and utility
• Attract academic collaborators and industry partners
• Support regulatory submissions with published natural history data
• Fulfill obligations to participants ("we will use your data to advance science")
• Build the evidence base for clinical trial endpoints

Types of registry publications

Registry description / methods paper

Describes the registry's design, governance, data elements, and enrolled population. This is typically the first publication, it establishes the scientific record for the registry and enables future citation.

Target journals: Rare diseases journals, clinical informatics journals, disease specific specialty journals
When to publish: After first 50 to 100 participants are enrolled and baseline data quality is established

Natural history paper

Describes the disease course, symptom prevalence, progression, and outcomes in your participant population. The core scientific product of a natural history registry.

Value: This paper becomes a reference for every clinical trial in your disease space.

Genotype phenotype paper

Links specific genetic variants to clinical features. Enormously valuable for diagnosis, prognosis, and drug target identification.

Requires: Genetic data (verified molecular diagnoses) + HPO coded phenotype data

Patient-reported outcomes paper

Describes participant burden, quality of life, and unmet needs from the participant perspective. Increasingly important for FDA participant-focused drug development.

Treatment patterns / real world evidence paper

Describes which treatments participants are receiving and their outcomes in real world practice.

Reporting standards

Use established reporting guidelines, reviewers and editors expect them:

• STROBE, Strengthening the Reporting of Observational Studies in Epidemiology
  strobe-statement.org

• RECORD, Reporting of Studies Conducted Using Observational Routinely-Collected Data (extension of STROBE for registry/EHR-based studies)
  record-statement.org

• CONSORT, For any controlled component
  consort-statement.org

• GRIPS, Genetic Risk Prediction Studies
  grips-statement.org

Participant authorship and acknowledgment

Every publication from your registry should:

1. Acknowledge participants, "The authors gratefully acknowledge the participants and families who contributed data to the [registry name]."
2. Include participant coauthors where possible, participants who contributed meaningfully to study design, questionnaire development, or interpretation of findings should be considered for co-authorship per ICMJE criteria
3. Disclose funding sources including industry partnerships
4. Disclose conflicts of interest for all authors

ICMJE authorship criteria: icmje.org/recommendations/browse/roles-and-responsibilities/defining-the-role-of-authors-and-contributors.html

Open access

Make your publications open access whenever possible. Your participants, and the broader community, deserve to read what was learned from their data. Most funding agencies (NIH, PCORI) now require open access publication.

NIH PubMed Central deposit: Required within 12 months for NIH funded research
publicaccess.nih.gov

Plan S / cOAlition S: International open access mandate increasingly adopted by funders
coalition-s.org

Target journals for rare disease registry publications

Key resources

• STROBE Statement
• RECORD Statement
• ICMJE Authorship Guidelines
• NIH Public Access Policy
• Orphanet Journal of Rare Diseases
• EQUATOR Network, Reporting guidelines

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