Patient registries and why they are essential for rare diseases

Eileen O’Brien

Siren Interactive

In part three of five articles by Siren Interactive, Eileen O’Brien discusses how important patient registries are for the acceleration of orphan drugs and the awareness of rare diseases, as well as looking into the challenges of funding and duplication. Eileen also speaks with PatientCrossroads and PatientsLikeMe to find out their thoughts on this issue.

(Continued from “The future of social media and pharma: collaboration ”)

At a very basic level a registry is a systematic collection of standardized data on a group of patients. “There are different types of registries used based on needs,” says Kyle Brown, Founder &amp, CEO of PatientCrossroads. “The chart below outlines the major types of registries and associated spectrums of the amount of data you can collect versus cost versus quality of data.”

Patient Opt-In: Also known as ‘contact registries’ where users register themselves on a website and provide minimal information, which is then used to reach out to patients interested in clinical trials, etc.

Patient Opt-In, Verified: Where users opt-in, complete detailed medical histories and provide confirmatory testing results. A central ‘curator’ then reviews the records and tags each record for completeness, confirmed diagnosis, required follow-up, etc.


“Pharmaceutical companies need registries to help guide investment decisions.”


Physician Entered: Essentially the same as Patient Opt-In, Verified, but the physicians do all of the data entry by interviewing patients or reviewing patient completed medical questionnaires.

Product Registry: Typically used by pharmaceutical companies to track which patients are on treatment for clinical trials, studies or post-market surveillance requirements.


Figure 1: Table showing the different types of patient registries. Source: Patient Crossroads

The type of information included in a typical registry can include demographic information, diagnosis, treatments, symptoms, path to diagnosis, family history, genetic testing, natural history and quality of life data.

The importance of registries for rare diseases

“There are more than 7,000 rare diseases, little is known about many of them and only a small percentage have registries which can describe the natural history of disease with a statistically significant number of patients,” explains Brown. “Pharmaceutical companies need registries to help guide investment decisions. How can they justify spending hundreds of millions of dollars if they don’t know how many people have the disease and their natural history?”

Nicole Boice, President / Founder of Global Genes | RARE Project, agrees. “For patients, caregivers and advocacy groups, gathering this data is essential to learn more about a rare disorder. It can help to motivate interest by both researchers and biopharmaceutical companies. If you can give pharma access to this critical data, it will help accelerate the process and decrease costs,” Boice posits. It’s estimated that less than 20% of rare diseases have registries, so the non-profit organization has been working to increase awareness. “We’re trying to increase the sense of urgency around starting and maintaining registries,” says Boice. “A patient registry should be high up on the priority scale for every single disease. We are working to educate people around the options and that there is a platform that is right for them.”


“For patients, caregivers and advocacy groups, gathering this data is essential to learn more about a rare disorder.”


Recently, the National Organization for Rare Disorders (NORD) issued a joint declaration of 10 key principles for rare disease patient registries with its strategic partner EURORDIS (Rare Diseases Europe) and CORD (the Canadian Organization for Rare Disorders). “In 10 key points, NORD, EURORDIS and CORD focus on the value of rare disease patient registries for increasing knowledge of little-understood diseases, supporting fundamental clinical and epidemiological research and promoting post-marketing surveillance of orphan drugs and treatments used off-label,” says Peter L. Saltonstall, president and CEO of NORD.

An unexpected problem: duplicate registries

Surprisingly, some rare diseases have a number of different, competing registries. “Currently, there are 32 different registries for Duchenne Muscular Dystrophy! All collecting different data with different rules and in different languages,” notes Brown. “There is huge fragmentation because everyone wants to ‘own the patient’. We feel strongly that there should be a single registry for any given rare disease.”

Registries that are unwilling to share data transparently are a big reason for registry proliferation. Academic researchers want to publish, so they need to collect the data and keep it private. Biopharmaceutical companies keep their registry data private for proprietary use. Compounding the issue is the global nature of disease.

What role does the government play?

The Office of Rare Diseases Research has launched a pilot program to establish a Global Rare Diseases Patient Registry and Data Repository (GRDR) to collect patient clinical information without personal identifiers (de-identified information compiled by the federal common rule and HIPAA regulations) for research. According to the website, the goal of GRDR is to enable analyses of data across many rare diseases and to facilitate clinical trials and other studies.


“Ideally, pharmaceutical companies, government and advocacy organizations should be funding registries — in an open and shared model.”


The GRDR has defined high-level Common Data Elements for data collection in rare disease registries. The idea is to minimize registry duplication or at least provide common data elements which allow the information to be shared.

Impact of the internet

The landscape of patient registries has changed dramatically with the rise of the Internet. One example is PatientsLikeMe, which is a free network where patients connect with others who have the same condition and track and share their own experiences. “Using clinically relevant measures, PatientsLikeMe members can monitor their health between doctor or hospital visits, document the changing severity of their symptoms, note how they are responding to new treatments and keep track of triggers and side effects. In the process, they create the longitudinal disease data that gives everyone — patients, caregivers, researchers, industry, regulators, providers and advocates — a better understanding of how diseases progress over time, and how patients are living with them,” states Ben Heywood, Co-Founder and President of PatientsLikeMe. “In contrast with past registries, the PatientsLikeMe model is inherently open. Patients are able to directly interact with others and with their data.”

Who should fund registries?

Ideally, pharmaceutical companies, government and advocacy organizations should be funding registries — in an open and shared model. “We have been working with pharmaceutical companies where multiple organizations will fund a registry on behalf of the community, and they have no access to the identifying information,” says Brown. “PatientCrossroads acts as the gatekeeper to the data and ensures all pharma and researchers have equal access to the community data and ability to recruit for trials and studies. Once a patient is recruited into a clinical trial, they would then go into the pharmaceutical company’s product registry and be consented into the trial.”

The future

“As people start to embrace technology, and understand the important role their data will play in their health, we will see a transformation in the ability to identify disease and manage disease,” notes Boice. “This is an exciting time for patients, technology innovation is bringing this community hope.”

The next of Siren Interactive’s rare disease articles will go live on 26th February


About the author:

Eileen O’Brien has 16 years of interactive healthcare marketing experience. As Director of Search &amp, Innovation at Siren Interactive, a relationship marketing agency focusing on rare disorder therapies, she oversees search strategy, CRM, analytics, and social media. Eileen was named one of the top 50 women in healthcare on Twitter (@EileenOBrien) and is considered an opinion leader on pharma social media. For more information, email Eileen at, or visit

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