If you or someone you love is living with a rare disease, you are well aware that gathering medical and health information about the disease is challenging.  It can be difficult (and tedious) to find the right medical team to either diagnose and/or manage care – especially since so few clinicians will have first-hand experience with or even knowledge about the disease.

How can we advance knowledge research for a rare disease when there are so few patients? One important way is through a Patient Registry.

1. What is a patient registry?

The vision of a rare disease patient registry is to support a world without the disease, while improving care and quality of life for persons with the disease and their families.

A patient registry brings together information collected from a group of people who share a health condition. It’s usually organized by a specialist physician or advocacy organization specifically to help advance knowledge about the particular disease. The registry collects and records each person’s symptoms, health assessments, lab tests and other medical evaluations so that these health experiences can be studied and compared.

2. Why are patient registries important?

There is power in numbers – and collecting health information from a group of patients can be quite empowering. Information from a patient registry provides many insights that can ultimately lead to better disease knowledge, treatments, and outcomes.

Specialists hope that by collecting and comparing information from the registry, they can:

• Increase overall knowledge about the disease

This may lead to a more accurate or quicker diagnosis. It can help a specialist deliver better clinical care. It can also help answer questions for patients about what to expect when diagnosed or living with a rare disease. Maybe it will even lead to research that can ultimately help prevent the disease.

• Improve research and clinical trial recruitment

Patient registries can help researchers find and recruit participants for clinical trials and other studies more efficiently. Faster recruitment can ultimately speed up development and delivery of new treatments and better care.

• Reveal patterns, challenges, and other important disease information

A patient registry can inform specialists about both the medical and social aspects of living with a rare disease. It may show where patients need more information and identify additional resources that would be helpful to improve outcomes or quality of life.

Patient registries can also inform health care policies or who pays for treatment.

3. What is involved in participating in a patient registry?

A patient registry is voluntary, so you will need to provide informed consent. A registry coordinator will go over participation details with you during the consent process. It might include how (and how often) you participate. Often times, participation may be as simple as your healthcare provider gathering information during healthcare appointments and from your medical records. You may have to answer a questionnaire from time to time as well. Your coordinator will review other important information with you and can answer your questions about participating. 

4. What kinds of research will my participation be used for?

There can be many benefits such as learning whether you might be a candidate for a clinical trial or learning how many other people in the world live with the same rare disease.  

There are a couple of ways you can join a patient registry. You may be asked by your health provider or health care institution. Know Rare may also help connect you to registries and researchers who are interested in starting registries.