Determine Patients’ Needs

Patient Registries

In the context of therapy development, a patient registry (also called a disease registry) is a database that collects and stores information about patients diagnosed with a specific disease, genetic disorder, or medical condition.

• Registry types: There are 2 general categories of registries.
  • A Contact registry can help connect patients to clinical trials and researchers to patients interested in furthering research.
  • A Natural History Study registry collects information about a disease from a patient and clinical perspective that can inform every stage of the therapy development process. 
• Registry vs. clinical trial: A patient registry can be listed in ClinicalTrials.gov , but these registries differ from treatment-based clinical trials  in several important ways:
  • A registry does not investigate a new therapy.
    • Registries are based on the patient’s actual experience and their current medical care.
    • A treatment clinical trial has certain requirements, for example it will require a volunteer to take a certain treatment or use a specific medical device and follow a specific protocol to track the safety and effectiveness of the therapy.
    • Registries are observational.
    • Clinical trials are experimental.
  • In almost every case, there is no cost to join a registry and medical insurance providers are not involved. 
    • Depending on the clinical trial, a participant’s medical insurance and, ultimately, the participant may be responsible for certain portions or all of the expenses related to the treatment clinical trial protocol. 
• Founders of a registry: A patient or disease registry can be set up by different stakeholders, however, forming a collaboration among several of the key stakeholders can increase the value of the data collected in the registry. Collaborators can include:
  • Patient groups (including their Medical or Scientific Advisors)
  • Clinicians
  • Academic researchers
  • Pharmaceutical companies
  • Biotechnology companies
• Rare and genetic disease registries: A registry is important to a rare disease community and is especially valuable in certain situations. For example, when:
  • Small patient populations make it difficult to attract enough patients to run a clinical trial.
  • The disease is not well characterized, leading to delayed and missed diagnosis.
  • Poor understanding of the natural history of the disease and its progression without treatment makes it difficult to evaluate the effectiveness of a new therapy.
  • No biomarkers have been validated. 
  • Clinical endpoints are unclear.
  • Clinical trial designs do not include the patient perspective, making retention in a clinical trial a challenge. 
• International registries: If a disease is relatively common, registries may only include people from a specific country . However, rare diseases benefit greatly from a global approach for a number of reasons. For example, an international registry:
  • Unifies efforts and data collection methods.
  • Increases statistical significance of data.
• Importance of registry: Registries benefit a number of populations, including patients and their caregivers, clinicians, researchers, industry partners, and regulatory agencies.
  • For patients and their caregivers, registries can:
    • Allow their voice to be heard. 
    • Capture the knowledge gained from living with the disease.
    • Increase the probability that a treatment or cure may be developed.
    • Provide valuable information to support accommodations and services that may  be needed at school, places of employment, or home.
    •  Empower and unite the community.
  • Registries can allow clinicians to: 
    • Better understand how the disease progresses over time.
    • Discover the signs and symptoms that are most responsible for decreasing a  patient’s quality of life. 
    • Explore the heterogeneity of signs, symptoms, and progression within the patient population.
    • Develop diagnostic criteria to decrease time to diagnosis.
    • Publish treatment and management guidelines.
  • For medical researchers, registries:
    • Validate animal models.
    • Establish patient-reported outcome and other clinical outcome measures.
    • Identify biomarkers.
    • Determine disease incidence.
    • Uncover common traits, behaviors, or symptoms not previously realized that may provide a better understanding of the pathology of the disease or new targets for treatment.  
    • Identify unmet medical needs to guide focus of treatment research.
  • Industry partners can gain insight on:
    • The established course of disease, biomarkers, and patient-reported outcome and other clinical outcome measures to increase the ability of a treatment to be evaluated for safety and effectiveness in clinical trials.
    • Improved clinical trials design based on knowledge from the patient perspective which can increase enrollment and retention. 
  • For regulators: 
    • An active, engaged patient community is one of the key components to  a successful therapy development and regulatory review process, especially for rare and genetic diseases.
    • Safety and efficacy of a newly approved treatment or medical device can be tracked accurately in an established natural history registry.
• Learn more:
  • Section 5: Encourage Sharing of Data and Section 6: Providing Data in From Molecules to Medicine: How Patients Can Their Voices Throughout The Drug Development Process (2018) provide a brief overview of the benefits and importance of sharing patient data and examples from different patient groups. This resource was developed by Global Genes .
  • Rare Disease Registries: Advancing Disease Understanding, Treatments, and Cures is a Global Genes document that discusses the importance of registries throughout the therapy development process as well as some factors that are important to building a good registry.
  • List of Registries includes answers to common questions about registries and links to multiple national registries.  This resource is updated periodically and is part of NIH Clinical Research Trials and You.

Resources